Variable Number (variable + number)

Distribution by Scientific Domains
Distribution within Medical Sciences

Terms modified by Variable Number

  • variable number tandem repeat

  • Selected Abstracts


    Interleukin-1 receptor antagonist and tumour necrosis factor-alpha gene polymorphisms in Turkish patients with allergic contact dermatitis

    CONTACT DERMATITIS, Issue 2 2009
    Ilgen Ertam
    Background: It has been shown that the family of interleukin-1 receptor antagonist (IL-1 RA) and tumour necrosis factor-alpha (TNF,) genes are polymorphic and related to some inflammatory diseases. Allergic contact dermatitis is the classic presentation of delayed-type hypersensitivity responses to exogenous agents. A number of genes playing role in inflammatory response may be associated with allergic contact dermatitis. Objectives: To investigate whether there is an association between IL-1RA and TNF, gene polymorphisms and allergic contact dermatitis in Turkish patients with allergic contact dermatitis. Methods: This study was performed by the collaboration of Departments of Dermatology and Medical Genetics, Ege University, Faculty of Medicine. A total of 50 patients (31 females and 19 males) with allergic contact dermatitis, and 100 age- and sex-matched controls (58 females and 42 males) were included in the study. IL-1RA Variable Number of Tandem Repeats (VNTR) polymorphism in intron 2 and TNF,-308G-A polymorphism were genotyped by using polymerase chain reaction and agarose gel electrophoresis. Results: The frequency of IL-1RA 1/2 (48%) genotype was significantly higher (P = 0.002) in patient group than that is found in control group (22%). The frequency of TNF, (TNF G-308A) G/G genotype was significantly higher in patient group (68%) than that is found in control group (31%) (P = 0.008). Conclusions: Our findings suggest that TNF, (G/G) gene polymorphism may play role in susceptibility to allergic contact dermatitis in Turkish patients. [source]


    Substantial Gains in Bias Reduction from Matching with a Variable Number of Controls

    BIOMETRICS, Issue 1 2000
    Kewei Ming
    Summary. In observational studies that match several controls to each treated subject, substantially greater bias reduction is possible if the number of controls is not fixed but rather is allowed to vary from one matched set to another. In certain cases, matching with a fixed number of controls may remove only 50% of the bias in a covariate, whereas matching with a variable number of controls may remove 90% of the bias, even though both control groups have the same number of controls in total. An example of matching in a study of surgical mortality is discussed in detail. [source]


    Variable number of tandem repeats polymorphism of platelet glycoprotein Ib , in Chinese people and CC genotype with aspirin sensitivity in patients with cerebral infarction

    JOURNAL OF CLINICAL PHARMACY & THERAPEUTICS, Issue 2 2009
    Y.-Y. Jin MM
    Summary Background and objective:, To study the prevalence of variable number of tandem repeats (VNTR) polymorphism in platelet membrane glycoprotein (GP) Ib , in a Chinese Han population and to determine the relationship between VNTR polymorphisms and aspirin resistance. Methods:, Three hundred healthy individuals and 110 patients with cerebral infarction volunteered to participate in this study. The genotype status of all participants was determined by polymerase chain reaction-restriction fragment length polymorphism analysis. Platelet aggregation in patients with cerebral infarction receiving aspirin (100 mg/day) for at least 7 days, was measured by optical transmission aggregometry. Results and discussion:, Only three alleles of GP Ib ,, namely, B, C and D, were found. Type A was not found in the Chinese Han participants. Aspirin-sensitive patients were significantly more often of CC genotype than aspirin-semi-responders. Conclusions:, Only three types of alleles B, C and D were detected in the north-eastern region of China. The CC genotype of the VTNR polymorphism in GPIb appears to be more sensitive to the inhibitory action of low-dose aspirin. [source]


    Variable number of tandem repeats in the growth hormone gene of Sparus aurata: association with growth and effect on gene transcription

    JOURNAL OF FISH BIOLOGY, Issue 2004
    R. Almuly
    The GH gene of Sparus aurata(saGH) contains variable number of tandem repeats (VNTR). The hyper-variable minisatellites in the first and third introns segregate in a Mendelian manner and exhibit numerous alleles. Analysis by PCR and sequencing of the two introns in several wild Sparidae species revealed comparable minisatellites with some variations. ,Zoo blot' with the first intron unit as a probe showed this sequence to be characteristic of several families from the Perciformes order. Unexpectedly, a similar minisatellite was found in the first intron of the GH gene in flounder, which belongs to a different order. Transfection of constructs containing a reporter gene and first intron of different length to four cell lines resulted in an inhibitory effect of the longer intron relative to the short intron. A (CA)n microsatellite (saGHpCA) is found in the GH promoter. A similar repeat at the same location is present in GH promoters of several other fish species. High variability (11 alleles) of the saGHpCA was found in a hatchery population. Full-sib family genotyping showed a Mendelian inheritance of these alleles. A significant association was found between allele distribution and body mass in large and average size fishes from a hatchery population. The intron minisatellites may serve as markers for hybrid population and parental assignment. Its presence in families and orders of the higher teleosts may help solving classification uncertainties. Their conservation and inhibitory effect suggest a biological role. The saGHpCA is correlated with growth and may be a good candidate for predicting growth performance. [source]


    Genetic structure of avian populations , allozymes revisited

    MOLECULAR ECOLOGY, Issue 10 2000
    P.-A. Crochet
    Abstract Selection on allozymes has sometimes been advanced as one explanation for the low levels of population differentiation detected in avian populations by the use of enzymatic markers. Comparisons of the amount of population subdivision (estimated by FST values or analogous indices) measured by enzymatic and mitochondrial DNA (mtDNA) markers in birds were seen as evidence for this because mtDNA typically produces a more structured picture of population subdivisions. In fact, when taking into account the smaller effective population size of mtDNA, nuclear and mitochondrial markers give concordant results. Some discrepancies still exist, but I suggest that some might originate from different amounts of nuclear vs. mitochondrial gene flow due to partial reproductive isolation. Variable number of tandem repeat (VNTR) loci do not provide a dramatically different picture of population structures in birds compared to allozymes. Although more tests are needed, such as comparing the amount of genetic structure detected in the same populations with allozymes and microsatellites, the low levels of population subdivision measured with allozymes in birds seem to reflect historical and demographic processes and would not appear to result from any peculiarities of bird enzymatic loci. [source]


    Urine cytology in renal glomerular disease and value of G1 cell in the diagnosis of glomerular bleeding

    DIAGNOSTIC CYTOPATHOLOGY, Issue 2 2003
    Gia-Khanh Nguyen M.D.
    Abstract The objectives of the present study were to evaluate the cytology of urine sediments in patients with glomerular diseases, as well as the value of G1 dysmorphic erythrocytes (G1DE) or G1 cells in the detection of renal glomerular hematuria. Freshly voided urine samples from 174 patients with glomerular diseases were processed according to the method used for semiquantitative cytologic urinalysis. G1DEs (distorted erythrocytes with doughnut-like shape, target configuration with or without membranous protrusions or blebs), non-G1DEs (distorted erythrocytes without the above-mentioned morphologic changes), normal erythrocytes (NEs), and renal tubular cells (RTCs) were evaluated. Erythrocytic casts (ECs) were counted and graded as abundant (>1 per high-power field) or rare (1 per 5 high-power fields). G1DE/total erythrocyte ratios were calculated by counting 200 erythrocytes including G1DEs, non-G1DEs, and NEs. Only abundant NEs were found in 13 cases; abundant G1DEs, non-G1DEs, NEs, and no ECs in 95 cases; abundant NEs, non-G1DEs, and ECs and no G1DEs in 31 cases; and abundant NEs, G1DEs and non-G1DEs, and rare ECs in 35 cases. In 130 cases in which G1DEs were present, the G1DE/total erythrocyte ratios varied from 10% to 100%. This parameter was greater or equal to 80%, 50%, 20%, and 10% in 58 (44.6%), 29 (22.3%), 28 (21.5%), and 15 (11.5%) patients, respectively. In all cases, the number of RTCs was within normal limits or slightly increased, and a variable number of non-G1DEs were present in 161 cases. Thus, abundant ECs and/or G1DEs with a G1DE/total erythrocyte ratio of 10,100% proved to be specific urinary markers for renal glomerular diseases. Diagn. Cytopathol. 2003;29:67,73. © 2003 Wiley-Liss, Inc. [source]


    First record of male drumming call of the genus Capnioneura Ris, 1905 (Plecoptera, Capniidae)

    ENTOMOLOGICAL SCIENCE, Issue 4 2009
    J. Manuel TIERNO DE FIGUEROA
    Abstract The male call of Capnioneura mitis, produced by drumming, is recorded and analyzed for the first time. It also represents the first known signal for the genus. It consists of a highly variable number of beats (2,32) with inter-beat duration approximately constant along the call, but inter-beat duration is temperature dependent. Thus, at 13°C the mean inter-beat duration is 1.397 s (SD = 0.050) while at 21°C it is 1.139 s (SD = 0.093). The call pattern exhibited by this species, as those of the majority of previously studied Capniidae species, can be catalogued as an ancestral or near-ancestral percussive monophasic signal. [source]


    Efficiency of permeable pavement systems for the removal of urban runoff pollutants under varying environmental conditions

    ENVIRONMENTAL PROGRESS & SUSTAINABLE ENERGY, Issue 3 2010
    Kiran Tota-Maharaj
    Abstract Urban surface water runoff typically contains a high but variable number of pathogens, nutrients, and sediments that require removal before reuse. Permeable pavements can improve the water quality through interception, filtration, sedimentation, nutrient transformation, and microbial removal. There is currently insufficient scientific information available on the treatment efficiencies of permeable pavements combined with earth energy systems with regards to the removal of storm water pollutants such as nutrients, sediments, and microbial pollutants. This study evaluates the efficiency of 12 tanked combined systems during a medium-term study. The research assessed weekly the removal of the microbial indicators total coliforms, Escherichia coli, and fecal Streptococci, as well as the key nutrients ammonia-nitrogen, nitrate-nitrogen, and ortho-phosphate-phosphorus, and physical variables such as suspended solids and turbidity. Total coliforms, E. coli, and fecal Streptococci were removed by 98,99%. The ammonia-nitrogen and ortho-phosphate-phosphorus removal efficiencies were 84.6% and 77.5%, respectively. An analysis of variance indicated that the presence or absence of a geotextile did result in a very highly statistically significant difference (P < 0.001) with respect to the removal of both ammonia-nitrogen and ortho-phosphate-phosphorus. Suspended solids, turbidity, and biochemical oxygen demand were reduced by 91%, 82%, and 88%, respectively. These results indicate the potential of the proposed novel system in urban runoff pollutant removal and subsequent reuse of the treated water. © 2010 American Institute of Chemical Engineers Environ Prog, 2010 [source]


    Interferon-, +874A/T and interleukin-4 intron3 VNTR gene polymorphisms in Chinese patients with idiopathic thrombocytopenic purpura

    EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 3 2007
    Xiaoli Chen
    Abstract Objectives:, The polarization of Th1/Th2 towards Th1 contributes to the pathogenesis of idiopathic thrombocytopenic purpura (ITP). Cytokines may play crucial roles in the pathogenesis of ITP. The purpose of this study was to investigate whether the interferon (IFN)-, +874(A/T) and interleukin-4 (IL-4) variable number of tandem repeats (VNTR) in intron3 polymorphisms may be responsible in part for genetic susceptibility to ITP. Methods:, Genotyping of IFN-, +874A/T and IL-4 intron3 VNTR was performed in 196 patients with ITP and 128 healthy individuals by polymerase chain reaction sequence-specific primers and direct PCR respectively. Results:, There was no association between IFN-, +874A/T and IL-4 intron3 VNTR polymorphism and ITP risk when all patients, as a group, were analyzed. When the patients were subdivided into two groups: childhood ITP and adult ITP, no statistical differences were found in the genotype and allele frequencies of IFN-, +874A/T and IL-4 intron3 VNTR between the two groups and the controls. Similar results were observed between acute childhood ITP, chronic childhood ITP, acute adult ITP or chronic adult ITP and the controls. Conclusion:, These polymorphisms were distributed similarly between the patients with ITP and the controls, demonstrating that these two candidate gene polymorphisms are not attributed to ITP susceptibility. [source]


    A systematic approach to molecular quantitative determination of mixed chimaerism following allogeneic bone marrow transplantation: an analysis of its applicability in a group of patients with severe aplastic anaemia

    EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 3 2004
    Rocío Hassan
    Abstract:, Mixed chimaerism (MC) following allogeneic bone marrow transplantation (allo-BMT) is defined as the persistent cohabitation of haematopoietic cells from recipients and donors. Its kinetics, clinical implications and more efficient laboratory approaches for MC detection are the object of ongoing research in view of the possibility of developing useful markers. Here we describe a sequential analysis of chimaerism using variable number of tandem repeat (VNTR) polymerase chain reaction (PCR) followed by quantitative, fluorescent labelled, short tandem repeat (STR) PCR. A set of four, highly discriminative VNTR and four STR markers was used to assess chimaerism. Sensitivity and regression analysis indicated that this approach was reliable for routine application in a single BMT centre. We studied 12 patients with severe aplastic anaemia (SAA) who had received allo-BMT, and had been conditioned with cyclosphosphamide (Cy) with or without anti-thymocyte globulin (ATG). We found a 50% prevalence of MC in the whole group, with levels between 4% and 37% of recipient cells. A sustained stable MC pattern after BMT was characteristic of the Cy-only conditioned patients but was also recorded in one patient treated with the Cy + ATG regime who showed a sustained MC pattern over a period of 24 months post-BMT. In none of our patients, MC was associated with an increased risk of graft rejection in a median follow-up of 39.5 months. [source]


    GENETIC STUDY: The interaction between the dopamine transporter gene and age at onset in relation to tobacco and alcohol use among 19-year-olds

    ADDICTION BIOLOGY, Issue 4 2009
    Brigitte Schmid
    ABSTRACT Recent evidence suggests that heterogeneity in the age at onset could explain the inconsistent findings of association studies relating the dopamine transporter (DAT1) gene with alcohol and nicotine consumption. The aim of this study was to examine interactions between two DAT1 polymorphisms and different initiation ages with regard to alcohol and tobacco consumption levels and dependence. Two hundred and ninety-one young adults (135 males, 156 females) participating in the Mannheim Study of Children at Risk were genotyped for the 40-bp variable number of tandem repeats (VNTR) and rs27072 polymorphisms of DAT1. Age at initiation was assessed at age 15 and 19 years. Information about current alcohol and tobacco consumption was obtained at age 19 years using self-report measures and structured interviews. Results suggest that age at onset of intensive consumption moderated the association of the DAT1 gene with early adult substance use and dependence, revealing a DAT1 effect only among individuals homozygous for the 10r allele of the 40-bp VNTR who had started daily smoking or being intoxicated early in life. Equally, carriers of the T allele of the rs27072 polymorphism reporting an early age at first intoxication showed higher current alcohol consumption at age 19 years. In contrast, no interaction between rs27072 and the age at first cigarette with regard to later smoking was observed. These findings provide evidence that the DAT1 gene interacts with an early heavy or regular drug exposure of the maturing adolescent brain to predict substance (ab)use in young adulthood. Further studies are required to confirm these findings. [source]


    GENETIC STUDY: Do genetic and individual risk factors moderate the efficacy of motivational enhancement therapy?

    ADDICTION BIOLOGY, Issue 3 2009
    Drinking outcomes with an emerging adult sample
    ABSTRACT Research indicates that motivational enhancement therapy (MET) helps catalyze reductions in problem drinking among emerging adults. However, moderators of this intervention remain relatively unknown. Therefore, the objectives of this study were: (1) to test whether a single session of MET increased motivation to reduce drinking and drinking outcomes; and (2) to examine whether genetic dopamine D4 receptor L (DRD4 L) and individual personality risk factors (impulsivity and novelty seeking) moderated the effects of the MET. These hypotheses were evaluated by randomly assigning a sample of emerging adult problem drinkers (n = 67) to receive a single session of MET or alcohol education. Follow-up data indicated that only individuals who were low in impulsivity, novelty seeking and/or who had the short DRD4 variable number of tandem repeats genotype evidenced differentially increased behavior change (taking steps toward reducing drinking) following the MET. [source]


    GENETIC STUDY: The dopamine D4 Receptor (DRD4) gene exon III polymorphism, problematic alcohol use and novelty seeking: direct and mediated genetic effects

    ADDICTION BIOLOGY, Issue 2 2009
    Lara A. Ray
    ABSTRACT The present study sought to integrate convergent lines of research on the associations among the dopamine D4 receptor (DRD4) gene, novelty seeking and drinking behaviors with the overall goal of elucidating genetic influences on problematic drinking in young adulthood. Specifically, this study tested a model in which novelty seeking mediated the relationship between DRD4 variable number of tandem repeats (VNTR) genotype and problematic alcohol use. Participants (n = 90, 40 females) were heavy-drinking college students. Analyses using a structural equation modeling framework suggested that the significant direct path between DRD4 VNTR genotype and problematic alcohol use was reduced to a trend level in the context of a model that included novelty seeking as a mediator, thereby suggesting that the effects of DRD4 VNTR genotype on problematic alcohol use among heavy-drinking young adults were partially mediated by novelty seeking. Cross-group comparisons indicated that the relationships among the model variables were not significantly different in models for men versus women. These results extend recent findings of the association between this polymorphism of the DRD4 receptor gene, problematic alcohol use and novelty seeking. These findings may also help elucidate the specific pathways of risk associated with genetic influences on alcohol use and abuse phenotypes. [source]


    GENETIC STUDY: Polymorphisms of the dopamine D4 receptor gene (DRD4 VNTR) and cannabinoid CB1 receptor gene (CNR1) are not strongly related to cue-reactivity after alcohol exposure

    ADDICTION BIOLOGY, Issue 2 2007
    Esther Van Den Wildenberg
    ABSTRACT Polymorphisms in the D4 dopamine receptor gene (DRD4) and the CB1 cannabinoid receptor gene (CNR1) have been associated with a differential response to alcohol after consumption. The goal of the present study was to investigate whether heavy drinkers with these polymorphisms would respond with enhanced cue-reactivity after alcohol exposure. Eighty-eight male heavy drinkers were genotyped for the DRD4 variable number of tandem repeats (VNTR) [either DRD4 long (L) or short (S)] and the CNR1 rs2023239 polymorphism (either CT/CC or TT). Participants were exposed to water and beer in 3-minute trials. Dependent variables of main interest were subjective craving for alcohol, subjective arousal and salivary reactivity. Overall, no strong evidence was found for stronger cue-reactivity (= outcome difference between beer and water trial) in the DRD4 L and CNR1 C allele groups. The DRD4 VNTR polymorphism tended to moderate salivary reactivity such that DRD4 L participants showed a larger beverage effect than the DRD4 S participants. Unexpectedly, the DRD4 L participants reported, on average, less craving for alcohol and more subjective arousal during cue exposure, compared with the DRD4 S participants. As weekly alcohol consumption increased, the CNR1 C allele group tended to report more craving for alcohol during the alcohol exposure than the T allele group. The DRD4 and CNR1 polymorphisms do not appear to strongly moderate cue-reactivity after alcohol cue exposure, in male heavy drinkers. [source]


    GENETIC STUDY: Association between dopamine transporter genotypes and smoking cessation: a meta-analysis

    ADDICTION BIOLOGY, Issue 2 2007
    John A. Stapleton
    ABSTRACT This review assessed the evidence of an association between genotypes of the dopamine transporter (DAT1, SLC6A3) 3, untranslated region (3,UTR) variable number of tandem repeats (VNTR) and smoking cessation. Five studies (seven cohorts) comprising 2155 subjects were included in the meta-analysis. All gave data on the number of smokers who had stopped smoking and the number still smoking for those with one or more variant 9-repeat alleles and other genotypes. Three studies (comprising five cohorts) were cross-sectional population surveys and two were smoking cessation treatment programs with follow-up. Four of the five studies (six of the seven cohorts) showed a trend in favor of cessation when the variant 9-repeat allele was present, although only one study showed a statistically significant effect. The pooled odds ratio in favor of a greater likelihood of cessation for the variant 9-repeat allele was 1.15 [95% confidence interval (CI) = 0.97,1.37]. In a more refined analysis where cohorts within studies were treated as separate samples and adjusted odds ratios were used, the overall pooled odds ratio in favor of cessation with the 9-repeat alleles was 1.20 (95% CI = 1.01,1.43). These results support the hypothesis that the DAT1 3,UTR VNTR polymorphism is associated with smoking cessation. One or more variant 9-repeat alleles relative to the more common 10-repeat allele confers a greater likelihood of cessation, indicative of lower dependence on tobacco. The effect was a 20% increase in the odds of cessation for those with a variant allele. [source]


    Bioenergetics of the formyl-methanofuran dehydrogenase and heterodisulfide reductase reactions in Methanothermobacter thermautotrophicus

    FEBS JOURNAL, Issue 1 2003
    Linda M. I. De Poorter
    The synthesis of formyl-methanofuran and the reduction of the heterodisulfide (CoM-S-S-CoB) of coenzyme M (HS-CoM) and coenzyme B (HS-CoB) are two crucial, H2 -dependent reactions in the energy metabolism of methanogenic archaea. The bioenergetics of the reactions in vivo were studied in chemostat cultures and in cell suspensions of Methanothermobacter thermautotrophicus metabolizing at defined dissolved hydrogen partial pressures (,pH2). Formyl-methanofuran synthesis is an endergonic reaction (,G°, = +16 kJ·mol,1). By analyzing the concentration ratios between formyl-methanofuran and methanofuran in the cells, free energy changes under experimental conditions (,G,) were found to range between +10 and +35 kJ·mol,1 depending on the pH2 applied. The comparison with the sodium motive force indicated that the reaction should be driven by the import of a variable number of two to four sodium ions. Heterodisulfide reduction (,G°, = ,40 kJ·mol,1) was associated with free energy changes as high as ,55 to ,80 kJ·mol,1. The values were determined by analyzing the concentrations of CoM-S-S-CoB, HS-CoM and HS-CoB in methane-forming cells operating under a variety of hydrogen partial pressures. Free energy changes were in equilibrium with the proton motive force to the extent that three to four protons could be translocated out of the cells per reaction. Remarkably, an apparent proton translocation stoichiometry of three held for cells that had been grown at pH2<0.12 bar, whilst the number was four for cells grown above that concentration. The shift occurred within a narrow pH2 span around 0.12 bar. The findings suggest that the methanogens regulate the bioenergetic machinery involved in CoM-S-S-CoB reduction and proton pumping in response to the environmental hydrogen concentrations. [source]


    Serotonin Transporter Protein Polymorphism and Harm Avoidance Personality in Migraine without Aura

    HEADACHE, Issue 6 2006
    Jeong Wook Park MD
    Objective.,To investigate polymorphisms in the serotonin transporter protein gene and harm avoidance personality dimension in patients with migraine without aura (MWOA). Background.,The serotonin transporter protein is a key modulator of serotonergic synaptic neurotransmission. Two polymorphic regions of the gene for serotonin transporter protein have been found, and are associated with variations in the functional activity of serotonin caused by differing transcriptional efficiency. The harm avoidance (HA) personality trait may also be heritable and associated with altered serotonergic neurotransmitter activity. Design.,We amplified the polymorphism in the promoter of serotonin transporter protein (5-HTTLPR) and the variable number of tandem repeats polymorphism within intron 2 (VNTR) using the polymerase chain reaction and performed genotype polymorphism analyses in 97 patients with MWOA and 100 healthy controls. We investigated serotonin-related personality traits by evaluating the HA personality dimension using a tridimensional questionnaire. Results.,The genotype frequencies and allele distributions of 5-HTTLPR did not differ between patients with MWOA and controls. The VNTR genotype STin2.12/STin2.12 was significantly more common in patients with MWOA (90%) than in controls (77%; P= .017). Patients with MWOA also had HA scores (21.9 ± 6.4) significantly higher than those of controls (16.3 ± 6.1; P < .001). Conclusions.,Serotonergic activity might be involved in the development of MWOA and VNTR of serotonin transporter gene might be one of the genetically contributing factors. [source]


    The Interleukin-1 RN Polymorphism and Helicobacter pylori Infection in the Development of Duodenal Ulcer

    HELICOBACTER, Issue 6 2004
    Ping-I Hsu
    ABSTRACT Background., The host genetic factors that determine the clinical outcomes for Helicobacter pylori -infected individuals remain unclear. Aims., To elucidate the relations among interleukin-1 locus polymorphisms, and H. pylori infection in the development of duodenal ulcers. Materials and methods., In a case,control study involving 168 control subjects and 147 patients with duodenal ulcer, biallelic polymorphisms of two interleukin-1 loci, IL-1B,511 and IL-1B+3954, as well as the penta-allelic variable number of tandem repeats of interleukin-1 receptor antagonist IL-1RN, were genotyped, and the H. pylori states of controls and patients were examined. Results.,Helicobacter pylori infection, male gender and the carriage of IL-1RN*2 independently increased the risk of duodenal ulcer with odds ratios of 6.4 (95% confidence interval, 3.7,11.0), 1.9 (95% confidence interval, 1.1,3.4) and 2.7 (95% confidence interval, 1.1,6.8), respectively. Statistical analysis revealed an interaction between IL-1RN*2 and H. pylori infection with the duodenal ulcer risk conferred by the H. pylori infection substantially increased (odds ratios, 22.6; 95% confidence interval, 5.9,86.5) by the carriage of IL-1RN*2. In addition, a synergistic interaction between IL-1RN*2 and blood group O existed. The combined risk of H. pylori infection, the carriage of IL-1RN*2 and blood group O for duodenal ulcer was 27.5 (95% confidence interval, 3.1,243.6). Conclusions., This work is the first to verify IL-1RN*2 as an independent factor that governs the development of duodenal ulcers. Our data indicate that H. pylori infection and IL-1RN*2 synergistically determine susceptibility to duodenal ulcer. The blood group phenotype is possibly a crucial determinant for the outcome of the impact of an interleukin-1 locus polymorphism on H. pylori -infected individuals. [source]


    A variable number of tandem repeats polymorphism influences the transcriptional activity of the neonatal Fc receptor ,-chain promoter

    IMMUNOLOGY, Issue 1 2006
    Ulrich J. H. Sachs
    Summary The neonatal Fc receptor, FcRn, plays a central role in immunoglobulin G (IgG) transport across placental barriers. Genetic variations of FcRn-dependent transport across the placenta may influence antibody-mediated pathologies of the fetus and the newborn. Sequencing analysis of 20 unrelated individuals demonstrated no missense mutation within the five exons of the FcRn gene. However, a variable number of tandem repeats (VNTR) region within the FcRn promoter was observed, consisting of five different alleles (VNTR1,VNTR5). Alleles with two (VNTR2) and three (VNTR3) repeats were found to be most common in Caucasians (7·5 and 92·0%, respectively). Real-time polymerase chain reaction revealed that monocytes from VNTR3 homozygous individuals express 1·66-fold more FcRn transcript than do monocytes from VNTR2/VNTR3 heterozygous individuals (P = 0·002). In reporter plasmid assays, the VNTR3 allele supported the transcription of a reporter gene twice as effectively as did the VNTR2 allele (P = 0·003). Finally, under acidic conditions, monocytes from VNTR3 homozygous individuals showed an increased binding to polyvalent human IgG when compared with monocytes from VNTR2/VNTR3 heterozygous individuals (P = 0·021). These data indicate that a VNTR promoter polymorphism influences the expression of the FcRn receptor, leading to different IgG-binding capacities. [source]


    NOD2/CARD15 and TNFA, but not IL1B and IL1RN, are associated with Crohn's disease

    INFLAMMATORY BOWEL DISEASES, Issue 4 2005
    António Carlos Ferreira BSc
    Abstract Background:NOD2/CARD15 was described as the first susceptibility gene to Crohn's disease (CD). Polymorphisms in the TNFA gene and in the IL1 gene cluster, which are associated with an enhanced chronic inflammatory response, may also play a role in the development of CD. The aim of this study was to determine the association of polymorphisms in the CARD15, TNFA, IL1B, and IL1RN genes with risk of development of CD and with the clinicopathological profile of CD patients. Methods: In a case-control study including 235 CD patients and 312 controls (929 controls for TNFA genotyping), the CARD15 (R702W, G908R, and1007fs), TNFA (,308G/A and ,857C/T), IL1B (,511C/T), and IL1RN (intron 2 variable number of tandem repeats) polymorphisms were genotyped. Results: We observed a significant association between CD and the CARD15 polymorphisms, with an odds ratio (OR) of 2.9 [95% confidence interval (CI), 1.9 to 4.6] for carriers of 1 variant allele and an OR of 11.8 (95% CI, 3.5 to 40.4) for carriers of 2 variant alleles. Patients with CARD15 polymorphisms had more frequently ileal or ileocolonic disease location, stricturing phenotype, abdominal surgery, and no extraintestinal manifestations. The TNFA -308A/A genotype was associated with susceptibility to CD with an OR of 3.0 (95% CI, 1.2 to 7.2). TNFA -308A/A homozygotes showed a higher frequency of erythema nodosum and arthritis, colonic disease location, and absence of abdominal surgery. No associations were found with the TNFA -857, IL1B -511, and the IL1RN VNTR polymorphisms. Conclusions: These findings suggest that CARD15 and TNFA -308 genetic polymorphisms are associated with increased risk of CD displaying distinct clinicopathological profiles. [source]


    The CAG repeat polymorphism within the androgen receptor gene and maleness,

    INTERNATIONAL JOURNAL OF ANDROLOGY, Issue 2 2003
    Michael Zitzmann
    Summary The androgen testosterone and its metabolite dihydrotestosterone exert their effects on gene expression and thus effect maleness via the androgen receptor (AR). A diverse range of clinical conditions starting with complete androgen insensitivity has been correlated with mutations in the AR. Subtle modulations of the transcriptional activity induced by the AR have also been observed and frequently assigned to a polyglutamine stretch of variable length within the N-terminal domain of the receptor. This stretch is encoded by a variable number of CAG triplets in exon 1 of the AR gene located on the X chromosome. First observations of pathologically elongated AR CAG repeats in patients with X-linked spino-bulbar muscular atrophy showing marked hypoandrogenic traits were supplemented by partially conflicting findings of statistical significance also within the normal range of CAG repeat length: an involvement of prostate tissue, spermatogenesis, bone density, hair growth, cardiovascular risk factors and psychological factors has been demonstrated. The highly polymorphic nature of glutamine residues within the AR protein implies a subtle gradation of androgenicity among individuals within an environment of normal testosterone levels providing relevant ligand binding to ARs. This modulation of androgen effects may be small but continuously present during a man's lifetime and, hence, exerts effects that are measurable in many tissues as various degrees of androgenicity and represents a relevant effector of maleness. It remains to be elucidated whether these insights are important enough to become part of individually useful laboratory assessments. [source]


    An intron 4 VNTR polymorphism of the endothelial nitric oxide synthase gene is associated with early-onset colorectal cancer

    INTERNATIONAL JOURNAL OF CANCER, Issue 7 2009
    Chih-Ching Yeh
    Abstract Endothelial-derived nitric oxide, which is produced by endothelial nitric oxide synthase (eNOS), may play an important role in colorectal carcinogenesis. However, the putative contribution of common eNOS genetic polymorphisms to colorectal cancer risk remains unknown. We genotyped 3 polymorphisms of eNOS (T-786C, G894T, and intron4b/a) in 727 colorectal adenocarcinoma cases and 736 age- and sex-matched healthy controls in Taiwan. Genotypes of the T-786C and G894T polymorphisms were determined by fluorescence polarization assays and the 27-bp variable number of tandem repeat (VNTR) polymorphism in intron 4 (intron4b/a) was analyzed by PCR. Logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Among younger participants (,60 yrs), the intron4a variant genotype was associated with a significantly increased risk of colorectal cancer, compared with the intron4bb genotype (OR = 1.60, 95% CI = 1.04,2.46). In addition, those young individuals bearing a greater number of high-risk genotypes (OR > 1, i.e., CT+TT for T-786C, ba+aa for intron4b/a, and GG for G894T) of eNOS had a higher colorectal cancer risk (ptrend = 0.039). Compared with younger individuals without any putative high-risk genotypes, those with 3 high-risk genotypes had a significantly greater cancer risk (OR = 1.89, 95% CI = 1.04,3.43). Our results suggest that the eNOS intron4b/a polymorphism may contribute to early-onset colorectal cancer risk in the Taiwanese population. © 2008 Wiley-Liss, Inc. [source]


    Identification of a novel single nucleotide polymorphism in the first tandem repeat sequence of the thymidylate synthase 2R allele

    INTERNATIONAL JOURNAL OF CANCER, Issue 9 2007
    Lisa F. Lincz
    Abstract Thymidylate synthase (TS) activity is an important determinant of response to chemotherapy with fluoropyrimidine prodrugs and its expression is largely determined by the number of functional upstream stimulatory factor (USF) E-box consensus elements present in the 5,regulatory region of the TYMS gene. Two known polymorphisms in this area, a variable number of tandem repeat (VNTR) consisting of 2 or 3 repeats (2R/3R) of a 28-bp sequence and a further G > C single nucleotide substitution within the second repeat of the 3R, result in genotypes with between 2 and 4 functional repeats in most humans. Here, we identify a further G > C SNP in the first repeat of the TYMS 2R allele, which effectively abolishes the only functional USF protein binding site in this promoter. The frequency of the new allele was found to be 4.2% (95% CI = 1.4,9.6%), accounting for 8.8% (95% CI = 2.9,19.3%) of all 2R alleles in our patient cohort. Thus, we observed that the lowest number of inherited functional binding sites is 1 instead of 2 as previously thought, and could potentially be 0 in a homozygous individual. This would severely decrease TS expression and may have implications for predicting efficacy and toxicity of therapy with commonly used fluorouracil-based therapy regimes. © 2007 Wiley-Liss, Inc. [source]


    Hair breakage,How to measure and counteract

    INTERNATIONAL JOURNAL OF COSMETIC SCIENCE, Issue 2 2010
    H.-M. Haake
    J. Cosmet. Sci., 60, 143,151 (March/April 2009) Synopsis A system to determine the efficacy of hair treatments in terms of anti-breakage and split end prevention was developed which involves the repeated combing of hair strands. The device allows ten hair strands to be combed simultaneously. First, the influences of chemical hair treatments like bleaching on hair breakage were examined. In a next step, the protective effects of benchmark products from the market were studied. Since nearly all commercial products with anti-breakage claims contain silicones combined with cationic polymers, alternative actives were searched. In a test series with different waxes in shampoo formulations with a variable number of parameters, the particle size was found to be the factor with the strongest influence on the amount of wax deposited on the shampooed hair. Therefore, a targeted development was started, resulting in a combination of several ethers dispersed in sodium laureth sulfate. Excellent conditioning, anti-breakage and split ends protection properties of the compound were found, showing also a dosage dependency. The latter could be explained by analyzing the amounts of waxes applied on treated hair. In these experiments, a dependency on the concentration in the shampoo was found. [source]


    Association of serotonin transporter gene-linked polymorphic region and variable number of tandem repeat polymorphism of the serotonin transporter gene in lichen simplex chronicus patients with psychiatric status

    INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 10 2008
    Necmettin Kirtak MD
    Background, The serotonin (5-hydroxytryptamine; 5-HT) is a key neurotransmitter in the central nervous system and a responsible mediator for the itch. Dysregulation of serotonergic pathways has been implicated in the pathogenesis of many complex neuropsychiatric diseases. Objectives, The purpose of this study was to evaluate the relationship between lichen simplex chronicus and dysfunction and serotonin transporter (5-HTT) gene polymorphism. Methods, Thirty-nine patients with lichen simplex chronicus and 61 healthy control subjects were examined. Results, The results for the patients and control subjects were not significantly different (P > 0.05) in long/long (L/L) and long/short (L/S) genotypes of 5-HTT gene-linked polymorphic region (HTTLPR) polymorphism, but short/short S/S genotype was lower in lichen simplex chronicus patients (17.9%) than in controls (42.6%). This difference was statistically significant (P = 0.028). The results for the patients and control subjects were not significantly different in 12/12, 10/12 and 10/10 genotypes of variable number of tandem repeat (VNTR) polymorphism (P > 0.05). Beck depression inventory (BDI) scores and symptom checklist-90-revised (SCL-90) psychotic subscale were overrepresented significantly in the 12/12 genotypes than 10/12 genotypes. State and Trait Anxiety Inventory tests (STAI-I and -II) point averages were not statistically significant (P > 0.05) Conclusion, S/S genotypes of HTTLPR polymorphism in the 5-HTT gene may be related to lichen simplex chronicus and that patients who have 12/12 genotypes of VNTR polymorphism may be affected psychiatrically. [source]


    Increasing returns to scale from variable capacity utilization

    INTERNATIONAL JOURNAL OF ECONOMIC THEORY, Issue 3 2007
    Susheng Wang
    E32; D24 We propose a unique model in which the firm varies capacity utilization by a variable number of shifts when facing demand fluctuations. In the long run, the firm optimally chooses a capacity level based on expected demand conditions. In the short run, when facing excess demand, the firm can increase variable inputs and the number of shifts to intensify the use of existing capacity. By endogenizing cost, demand and variability of capacity utilization, we show that variable capacity utilization can lead to increasing returns to scale. Hence, we predict increasing returns to scale when an economy expands in a business cycle. [source]


    Satellite image segmentation using hybrid variable genetic algorithm

    INTERNATIONAL JOURNAL OF IMAGING SYSTEMS AND TECHNOLOGY, Issue 3 2009
    Mohamad M. Awad
    Abstract Image segmentation is an important task in image processing and analysis. Many segmentation methods have been used to segment satellite images. The success of each method depends on the characteristics of the acquired image such as resolution limitations and on the percentage of imperfections in the process of image acquisition due to noise. Many of these methods require a priori knowledge which is difficult to obtain. Some of them are parametric statistical methods that use many parameters which are dependent on image property. In this article, a new unsupervised nonparametric method is developed to segment satellite images into homogeneous regions without any a priori knowledge. The new method is called hybrid variable genetic algorithm (HVGA). The variability is found in the variable number of cluster centers and in the changeable mutation rate. In addition, this new method uses different heuristic processes to increase the efficiency of genetic algorithm in avoiding local optimal solutions. Experiments performed on two different satellite images (Landsat and Spot) proved the high accuracy and efficiency of HVGA compared with another two unsupervised and nonparametric segmentation methods genetic algorithm (GA) and self-organizing map (SOM). The verification of the results included stability and accuracy measurements using an evaluation method implemented from the functional model (FM) and field surveys. © 2009 Wiley Periodicals, Inc. Int J Imaging Syst Technol, 19, 199,207, 2009 [source]


    Two new species of DiaphanosomaFischer, 1850(Crustacea: Branchiopoda: Cladocera) from the United States

    INTERNATIONAL REVIEW OF HYDROBIOLOGY, Issue 2 2005
    Nikolai M. Korovchinsky
    Abstract Two new species of the genus Diaphanosoma,D. oligosetum and D. dorotheae, from Louisiana and North Carolina respectively, are described. The former species has large head with protruding dorsal part, large lanceolate spine on the basipodite's distal outer end, an extremely reduced number of antennal setae, up to six in adult specimens, and unique armament of valve margin. On the whole, it shows the pronounced combination of primitive and specialized morphological traits. D. dorotheae is a member of D. brachyurum species group differing from its other known representatives in presence of a small but very conspicuous spine on the end of proximal segment of antennal exopodite and a variable number of setae (seven or eight) on the distal segment of the branch. (© 2005 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim) [source]


    Wavelength selection with Tabu Search

    JOURNAL OF CHEMOMETRICS, Issue 8-9 2003
    J. A. Hageman
    Abstract This paper introduces Tabu Search in analytical chemistry by applying it to wavelength selection. Tabu Search is a deterministic global optimization technique loosely based on concepts from artificial intelligence. Wavelength selection is a method which can be used for improving the quality of calibration models. Tabu Search uses basic, problem-specific operators to explore a search space, and memory to keep track of parts already visited. Several implementational aspects of wavelength selection with Tabu Search will be discussed. Two ways of memorizing the search space are investigated: storing the actual solutions and storing the steps necessary to create them. Parameters associated with Tabu Search are configured with a Plackett,Burman design. In addition, two extension schemes for Tabu Search, intensification and diversification, have been implemented and are applied with good results. Eventually, two implementations of wavelength selection with Tabu Search are tested, one which searches for a solution with a constant number of wavelengths and one with a variable number of wavelengths. Both implementations are compared with results obtained by wavelength selection methods based on simulated annealing (SA) and genetic algorithms (GAs). It is demonstrated with three real-world data sets that Tabu Search performs equally well as and can be a valuable alternative to SA and GAs. The improvements in predictive abilities increased by a factor of 20 for data set 1 and by a factor of 2 for data sets 2 and 3. In addition, when the number of wavelengths in a solution is variable, measurements on the coverage of the search space show that the coverage is usually higher for Tabu Search compared with SA and GAs. Copyright © 2003 John Wiley & Sons, Ltd. [source]


    Association of the OGG1 Ser326Cys polymorphism with tooth loss

    JOURNAL OF CLINICAL LABORATORY ANALYSIS, Issue 2 2006
    Yoshinori Hasui
    Abstract Although tooth loss is a serious health problem for elderly people, little is known about the genetic basis for susceptibility to it. In the present study we aimed to find a single nucleotide polymorphism (SNP) associated with tooth loss. DNA samples from 119 outpatients (mean age=78.8 years) were genotyped on seven polymorphisms (tumor necrosis factor-, ,1031T/C, interleukin-1, ,511C/T, interleukin-6 ,634C/G, macrophage migration inhibitory factor ,173G/C, interleukin-1 receptor antagonist variable number of tandem repeat in intron 2, matrix metalloproteinase-1 ,16071G/2G, and oxoguanine glycosylase 1 (OGG1) Ser326Cys (1245C/G)), and the results were statistically evaluated. Of the seven polymorphisms tested, only OGG1 Ser326Cys was revealed to associate with tooth loss at a statistically significant level (P=0.0086). In addition, a multivariate logistic regression analysis in which age, gender, body mass index (BMI), and ischemic heart disease were included as independent variables indicated that Ser326Cys could be an independent factor affecting tooth loss (OR, 3.191; 95%CI, 1.174,8.672). The data suggest that the OGG1 Ser326Cys polymorphism may be associated with tooth loss. J. Clin. Lab. Anal. 20:47,51, 2006. © 2006 Wiley-Liss, Inc. [source]