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Other Genotypes (other + genotype)
Selected AbstractsPolymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defectsPRENATAL DIAGNOSIS, Issue 6 2008R. Brouns Abstract Objective To investigate the associations between biomarkers and genetic variants involved in homocysteine metabolism and the risk of complex birth defects. Methods Total homocysteine (tHcy), folate, cobalamin, apo-transcobalamin (apo-TC) and apo-haptocorrin (apo-HC) were measured in the amniotic fluid of 82 women who were pregnant with a child having a complex birth defect, such as neural tube defect, cleft lip and/or palate, heart defect or omphalocele, and in 110 women pregnant with a non-malformed child. The determined genotypes of the child comprised of 5, 10-methylenetetrahydrofolate reductase (MTHFR 677C > T, 1298A > C), methionine synthase (MTR 2756A > G), methionine synthase reductase (MTRR 66A > G) and transcobalamin (TCN2 776C > G). Univariate and multivariate logistic regression analyses were performed. Results Significantly lower cobalamin and higher apo-TC, apo-HC, tHcy and folate concentrations were determined in amniotic fluids of cases compared with controls (p,0.001). Logistic regression analysis revealed that after adjustment for maternal age, children carrying the MTHFR 677T allele showed a four-fold increased risk of having a complex birth defect, OR (95% CI) = 4.0 (1.1,15.4). Other genotypes did not show significant associations. Conclusion The MTHFR 677C > T polymorphism in conjunction with reduced folate- and/or cobalamin status may increase the risk of complex birth defects. Copyright © 2008 John Wiley & Sons, Ltd. [source] GENETIC STUDY: Association between dopamine transporter genotypes and smoking cessation: a meta-analysisADDICTION BIOLOGY, Issue 2 2007John 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] Study of selected quality and agronomic characteristics and their interrelationship in Kabuli-type chickpea genotypes (Cicer arietinum L.)INTERNATIONAL JOURNAL OF FOOD SCIENCE & TECHNOLOGY, Issue 2006Amal Badshah Khattak Summary Impact of genotype on quality, agronomic characteristics and their interrelationship in Kabuli-type chickpea was investigated to provide significant feedback to breeder for selection/evolution of the most suitable varieties. Seven genotypes were studied for seventeen physical, chemical and agronomic characteristics. The effect of Kabuli-type chickpea genotype on the physicochemical parameters, cooking time and agronomic characteristics were significant. Maximum seed size and volume were recorded for CC98/99 (0.32 g and 0.26 mL seed,1, respectively), density and swelling index for the genotype FLIP97-179C (having minimum seed size and volume), while the rest of the genotypes were statistically the same. Weight, volume after hydration, hydration capacity and swelling capacity followed the same pattern. Maximum moisture, protein and mineral concentration were noted in CC98/99. Seed protein concentration for the remaining genotypes was statistically non-significant from one another. Longer period was taken by CM 2000 for flowering and maturity (130 and 181 days, respectively). Minimum time to flowering and maturity was taken by CC98/99. Genotype CC 98/99 outyielded all other genotypes (2107 kg ha,1). Seed size and seed volume were strongly and positively correlated with protein content, weight after hydration, volume after hydration, hydration and swelling capacities (r = 0.83,1.0). Strong correlation was also noted among different agronomic characters. [source] Determination of the inheritance pattern of hyperthelia in cattle by maximum likelihood analysis 1JOURNAL OF ANIMAL BREEDING AND GENETICS, Issue 6 2000M. Brka Summary A previously published data-set with observations on supernumerary teats (hyperthelia) in dual-purpose Simmental was reanalysed by maximum-likelihood. The data comprised 537 unrelated animals and 614 members of 27 paternal half-sib families with known phenotype of each sire. The frequency of hyperthelia was 58% in unrelated animals, 51% in families with unaffected sire, and 73% in families with affected sires. Six different cases of single-gene inheritance were considered. The highest log-likelihood was obtained for additive inheritance and for a recessive pattern with 100% penetrance for recessive homozygotes and 32% for both other genotypes. Estimates for the gene frequency of the favourable allele were 0.34 and 0.29, respectively. Simple dominance or recessiveness with full or incomplete penetrance could be excluded. The possibility of finding paternal half-sib families with a heterozygous sire as a resource for a mapping experiment seem to be good in German Simmental. Zusammenfassung Untersuchung des Erbganges für Hyperthelie beim Rind mittels Maximum-Likelihood-Analyse Schon früher veröffentliche Daten mit Beobachtungen zum Auftreten überzähliger Zitzen (Hyperthelie) bei Fleckviehtieren wurden einer Maximum-Likelihood-Analyse unterzogen. Das Material bestand aus 537 unverwandten Tieren und 614 Tieren, die aus 27 verschiedenen väterlichen Halbgeschwistergruppen stammten, wobei der Phänotyp des Vaters jeweils bekannt war. Die relative Häufigkeit überzähliger Zitzen betrug 58% bei unverwandten Tieren, 51% bei Nachkommen von nicht betroffenen Vätern und 73% bei Nachkommen von Vätern, die selbst überzählige Zitzen aufwiesen. Sechs verschiedene Möglichkeiten monogener Vererbung wurden untersucht. Die höchsten Werte für die log-likelihood ergaben sich für einen additiven Erbgang sowie für eine Variante mit 100% Penetranz für die rezessiv Homozygoten und jeweils 32% Penetranz für die beiden anderen Genotypen. Für das erwünschte Allel wurde in beiden Varianten eine ähnliche Frequenz von 34% bzw. 29% geschätzt. Einfache dominante oder rezessive Erbgänge, auch mit unvollständiger Penetranz, konnten ausgeschlossen werden. Die Aussicht, für Kartierungsexperimente geeignete väterlichen Halbgeschwisterfamilien zu finden, scheint für die Rasse Fleckvieh günstig zu sein. [source] The role of genotypic diversity in determining grassland community structure under constant environmental conditionsJOURNAL OF ECOLOGY, Issue 5 2007RAJ WHITLOCK Summary 1A recent experiment varied the genetic diversity of model grassland communities under standardized soil and management conditions and at constant initial species diversity. After 5 years' growth, genetically diverse communities retained more species diversity and became more similar in species composition than genetically impoverished communities. 2Here we present the results of further investigation within this experimental system. We proposed that two mechanisms , the first invoking genetically determined and constant differences in plant phenotypes and the second invoking genotype,environment interactions , could each underpin these results. This mechanistic framework was used as a tool to interpret our findings. 3We used inter-simple sequence repeat (ISSR) DNA markers to confirm which of the individuals of six study species initially included in the model communities were unique genotypes. We then used the molecular markers to assess the survival and abundance of each genotype at the end of the 5-year experimental period. 4The DNA marker data were used to create, for the first time, a genotype abundance hierarchy describing the structure of a community at the level of genotypes. This abundance hierarchy revealed wide variation in the abundance of genotypes within species, and large overlaps in the performance of the genotypes of different species. 5Each genotype achieved a consistent level of abundance within genetically diverse communities, which differed from that attained by other genotypes of the same species. The abundance hierarchy of genotypes within species also showed consistency across communities differing in their initial level of genetic diversity, such that species abundance in genetically impoverished communities could be predicted, in part, by genotypic identity. 6Three species (including two canopy-dominants) experienced shifts in their community-level genotype abundance hierarchies that were consistent with an increased influence of genotype,environment interactions in genetically impoverished communities. 7Our results indicate that under relatively constant environmental conditions the species abundance structure of plant communities can in part be predicted from the genotypic composition of their component populations. Genotype,environment interactions also appear to shape the structure of communities under such conditions, although further experiments are needed to clarify the magnitude and mechanism of these effects. [source] Effects of genotype, elevated CO2 and elevated O3 on aspen phytochemistry and aspen leaf beetle Chrysomela crotchi performanceAGRICULTURAL AND FOREST ENTOMOLOGY, Issue 3 2010Leanne M. Vigue 1Trembling aspen Populus tremuloides Michaux is an important forest species in the Great Lakes region and displays tremendous genetic variation in foliar chemistry. Elevated carbon dioxide (CO2) and ozone (O3) may also influence phytochemistry and thereby alter the performance of insect herbivores such as the aspen leaf beetle Chrysomela crotchi Brown. 2The present study aimed to relate genetic- and atmospheric-based variation in aspen phytochemistry to C. crotchi performance (larval development time, adult mass, survivorship). The experiment was conducted at the Aspen Free-Air CO2 Enrichment (FACE) site in northern Wisconsin. Beetles were reared on three aspen genotypes under elevated CO2 and/or O3. Leaves were collected to determine chemical characteristics. 3The foliage exhibited significant variation in nitrogen, condensed tannins and phenolic glycosides among genotypes. CO2 and O3, however, had little effect on phytochemistry. Nonetheless, elevated CO2 decreased beetle performance on one aspen genotype and had inconsistent effects on beetles reared on two other genotypes. Elevated O3 decreased beetle performance, especially for beetles reared on an O3 -sensitive genotype. Regression analyses indicated that phenolic glycosides and nitrogen explain a substantial amount (27,45%) of the variation in herbivore performance. 4By contrast to the negative effects that are typically observed with generalist herbivores, aspen leaf beetles appear to benefit from phenolic glycosides, chemical components that are largely genetically-determined in aspen. The results obtained in the present study indicate that host genetic variation and atmospheric concentrations of greenhouse gases will be important factors in the performance of specialist herbivores, such as C. crotchi, in future climates. [source] Genotype-specific mechanisms for hepatic steatosis in chronic hepatitis C infectionJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 8 2002Jason M Hui Abstract Background: Hepatic steatosis is common in hepatitis C, but the relative importance of host and viral factors is controversial. In the present prospective study, we examined metabolic factors associated with non-alcoholic fatty liver and viral genotype as predictors of steatosis and fibrosis in chronic hepatitis C infection. Methods: In 124 chronic hepatitis C patients, the association between liver histology and the following was investigated: demographic and anthropometric data, alcohol intake, alanine aminotransferase (ALT), total cholesterol, low-density lipoprotein,cholesterol, high-density lipoprotein,cholesterol, triglyceride, transferrin saturation, ferritin, insulin, c-peptide, glucose and insulin resistance (homeostasis model). Results: By multivariate analysis, genotype 3 was associated with increased steatosis grade (P = 0.02). There were significant pairwise interactions between genotype 3 status and total cholesterol (P = 0.01), current alcohol intake (P = 0.04) and serum ALT (P = 0.01). This showed that the etiology of steatosis was different in patients with genotype 3 and those with non-genotype 3 chronic hepatitis C infection. In genotype 3 patients, the degree of steatosis was inversely associated with serum cholesterol (P = 0.005) and positively associated with serum triglyceride (P = 0.02). There was no association between body mass index (BMI) and the extent of steatosis. Among patients with other genotypes, the steatosis grade was strongly influenced by BMI (P < 0.0001) and serum ALT (P < 0.01). Independent predictors of fibrosis were age (P = 0.001), past alcohol intake (P = 0.04), ALT (P = 0.002), serum insulin (P = 0.001) and portal inflammation (P < 0.001). Conclusions: Hepatitis C genotype 3 may interfere with pathways of hepatic lipid metabolism, whereas increased BMI appears to be a more important pathogenic factor in other genotypes. Although steatosis and BMI were not associated with hepatic fibrosis, their relationship with serum insulin suggests that metabolic factors related to insulin action could influence fibrogenesis in hepatitis C. [source] Prediction of response to treatment of chronic hepatitis B with pegylated interferon in the PhilippinesJOURNAL OF MEDICAL VIROLOGY, Issue 2 2010Dorothy M. Agdamag Abstract The response marker for interferon has not been investigated fully for hepatitis B viruses (HBVs) in the Philippines where novel subtypes B5 and C5 were recognized recently. The prediction parameters for interferon treatment were assessed, with emphasis on the mutation patterns in the basal core promoter and precore regions in patients with chronic hepatitis B. Seventeen HBeAg-positive patients were stratified according to response to treatment with pegylated interferon based on HBe seroconversion and HBV load. Intra-patient distributions of wild-type strains (A1762, G1764) and variants (T1762, A1764) were analyzed using HBV-DNA amplification and subsequent molecular cloning. The rate of variants (T1762, A1764) harbored by a patient was higher among responders (41.2% and 31% per person on average) than among non-responders (2.4% and 2.4%) to treatment with pegylated interferon at the baseline, respectively (P,<,0.05). The rate of variants (T1762, A1764) harbored by responders (41.2% and 31%) decreased to 1.7% and 1.7%, and wild-type strains (A1762, G1764) conversely became majority (98.3% and 98.3%) after treatment with pegylated interferon, respectively. HBV strains harbored by two of six responders and a patient with lower baseline load (1.0,×,104,copies/ml) showed genotype shift from A to other genotypes, where genotype A disappeared preferentially after the loss of HBeAg and genotypes B and C formed a major population. These results suggest that the HBV variants (T1762, A1764) and HBV genotype A in the Philippines have an advantage in the response to pegylated interferon. These results warrant a large-scale examination for further precise prediction of the response to treatment with interferon. J. Med. Virol. 82:213,219, 2010. © 2009 Wiley-Liss, Inc. [source] HCV genotypes in Sicily: Is there any evidence of a shift?JOURNAL OF MEDICAL VIROLOGY, Issue 6 2009Paola Pizzillo Abstract The distribution of HCV strains in any area is characterized by a relative prevalence of one genotype, and a number of less prevalent types. In some Western countries a change from the prevalent HCV genotype 1 to genotypes 3 and 4 has been reported in the last decade. In order to assess possible variations of the distribution of HCV genotypes in Sicily, a southern region of Italy, a hospital-based cohort, collected prospectively, of 3,209 subjects with chronic HCV infection was surveyed, comparing the distribution of HCV genotypes during two consecutive periods, from 1997 to 2002 and from 2003 to 2007, according to age and gender. The results show that genotype 1b, which has been historically the most prevalent in Sicily, is still predominant, followed more distantly by genotypes 2 and 3a. However, a cohort effect for these genotypes was seen when comparing the two time periods. Genotype 1b decreased slowly over the last decade, due to the death of the people infected, leading to a proportional increase of the other genotypes. No evidence was found in support of a major increase in the prevalence of other genotypes, such as genotype 4, in relation to migration patterns. J. Med. Virol. 81:1040,1046, 2009. © 2009 Wiley-Liss, Inc. [source] Genetic characteristics of hepatitis B virus genotypes as a factor for interferon-induced HBeAg clearanceJOURNAL OF MEDICAL VIROLOGY, Issue 8 2007Jinlin Hou Abstract The factors determining the responsiveness of different hepatitis B virus (HBV) genotypes to interferon treatment are not fully understood. We investigated the relationship between HBV genetic characteristics and the outcome of short (16 weeks) or prolonged (32 weeks) treatment with standard interferon-alpha in a prospectively followed cohort of 103 patients across Europe with HBeAg positive chronic hepatitis B. INNO-LiPA assays and HBV DNA sequencing were used to determine HBV genotypes, mutations in the core promoter and precore/core regions. After 16-weeks interferon-alpha treatment, the rate of HBeAg clearance was higher in genotype A versus all other genotypes (P,=,0.014), or genotype D alone (P,=,0.05). The HBV genome analysis revealed that: (i) after 16-weeks treatment, an HBV subpopulation with core promoter mutations emerged or increased (P,<,0.001) only in genotype A; (ii) the core gene of genotype A has the lowest number of amino acid variations in comparison with genotypes B, C, or D. Logistic regression analysis identified genotype A as a positive predictor of short (16 weeks) treatment response (P,=,0.001; odds ratio 6.19, 95 confidence interval 1.94,19.8), having a greater impact than baseline HBV DNA or alanine aminotransferase (ALT) levels. In contrast, the response to prolonged interferon-alpha treatment was not different between HBV genotypes. These results suggest that HBV genotype A responds earlier to interferon treatment than other genotypes, which is associated with its molecular characteristics. The optimal duration of interferon-based therapies in chronic hepatitis B may vary between different HBV genotypes. J. Med. Virol. 79: 1055,1063, 2007. © 2007 Wiley-Liss, Inc. [source] Matrix metalloproteinase-3 gene polymorphism in renal transplant patients with gingival overgrowthJOURNAL OF PERIODONTAL RESEARCH, Issue 1 2010A. Drozdzik Drozdzik A, Kurzawski M, Lener A, Kozak M, Banach J, Drozdzik M. Matrix metalloproteinase-3 gene polymorphism in renal transplant patients with gingival overgrowth. J Periodont Res 2009; doi: 10.1111/j.1600-0765.2009.01221.x. © 2009 The Authors. Journal compilation © 2009 Blackwell Munksgaard Background and Objective:, Gingival enlargement frequently occurs in transplant patients receiving immunosuppressive drugs. It was hypothesized that gingival enlargement associated with cyclosporine use results from reduced degradation of extracellular matrix in the gingiva. Matrix metalloproteinase-3 (MMP-3) is involved in biodegradation of the extracellular matrix, and its inhibition may contribute to an abnormal accumulation of fibronectin and proteoglycans, which are MMP-3 substrates. The aim of this study was to investigate whether an association exists between MMP-3 genotypes and gingival enlargement in kidney transplant patients medicated with cyclosporine A. Material and Methods:, Sixty-four unrelated kidney transplant patients suffering from gingival overgrowth, as well as 111 control transplant patients without gingival overgrowth, were enrolled in the study. Gingival overgrowth was assessed 6 mo after transplantation. During the post-transplant period all patients were given cyclosporine A as a principal immunosuppressive agent. MMP-3 polymorphism was determined using a PCR restriction fragment length polymorphism assay. Results:, In kidney transplant patients suffering from gingival overgrowth the mean gingival overgrowth score was 1.35 ± 0.57, whereas in control subjects the mean gingival overgrowth score was 0.0. The distribution of MMP-3 -1178A/*dupA alleles among all kidney transplant patients, as well as in the two study subgroups, did not differ significantly from Hardy,Weinberg equilibrium. The frequency of the MMP-3-1171*A/*A genotype (28.1% for gingival overgrowth vs. 26.1% for controls) and of the MMP-3-1171*dupA/*dupA genotype (32.8% for gingival overgrowth vs. 22.5% for controls) was similar for both study groups. The risk of gingival overgrowth was lowest among patients carrying the MMP-3-1171*A/*dupA genotype (odds ratio 0.52), but this did not differ markedly from the other genotypes. Conclusion:, No association between MMP-3 gene polymorphism and gingival overgrowth was revealed in kidney transplant patients administered cyclosporine A. [source] Meta-analysis: polymorphisms in TNF-, gene promoter and Crohn's diseaseALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 2 2010Z. Han Aliment Pharmacol Ther 2010; 32: 159,170 Summary Background, Tumour necrosis factor alpha (TNF-,) is involved in the pathogenesis of Crohn's disease (CD). However, results on the association between the polymorphisms in TNF-, promoter and the risk of CD are inconsistent. Aim, To perform a quantitative synthesis for the genetic polymorphisms in TNF-, promoter and CD risk. Methods, Databases were searched (up to 2009) and 31 studies were included. Risks of CD associated with the polymorphisms in TNF-, promoter were assessed. Results, Overall, individuals with -1031 TC+CC genotype had a slightly increased risk to develop CD compared with individuals with -1031 TT genotype (OR, 1.32; 95% CI, 1.03,1.70). In the further stratified analysis, we found Asians with the -1031T>C, -863 C>A and -857 C>T variant polymorphisms have almost one and a half CD risk compared with other genotypes (OR, 1.58; 95% CI, 1.16,2.15; OR, 1.55; 95% CI, 1.18,2.02; OR, 1.54; 95% CI, 1.19,1.99 respectively). We did not find -308 G>A variant associated with CD location and disease behaviours in stratified analysis. Conclusions,TNF-, polymorphisms in the promoter region might be used as a biomarker for CD risk prediction. Larger studies with mixed ethnicity subjects and stratified by clinical and sub clinical characteristics are needed to validate our findings. [source] Low- and standard-dose peginterferon alfa-2a for chronic hepatitis C, genotype 2 or 3: efficacy, tolerability, viral kinetics and cytokine responseALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 9 2010Y. ROTMAN Aliment Pharmacol Ther,31, 1018,1027 Summary Background, Chronic infection with hepatitis C, genotype 2/3, responds better than other genotypes to peginterferon and ribavirin treatment. We hypothesized that a lower dose of peginterferon would be as effective, but less toxic than standard doses. Aim, To test the hypothesis that a lower dose of peginterferon would be as effective as, but less toxic than, standard doses. Methods, A total of 30 patients were treated with low-dose peginterferon alfa-2a (90 ,g/week) and 27 patients with standard doses (180 ,g/week) for 24 weeks in combination with 800 mg/day of ribavirin. Patients who failed treatment were offered 48 weeks of standard-dose treatment. Viral and serum inducible protein 10 (IP-10) levels were measured and early viral kinetic parameters were calculated. Results, Sustained virological response was achieved in 68% of the low-dose and 87% of the standard-dose patients (per protocol, P = 0.79 for non-inferiority). Re-treatment was successful in all patients who tolerated full dose and duration. The standard-dose group had greater first-phase declines of viral levels and faster time to negativity. The second-phase slope was not dose-dependent. IP-10 induction was significantly greater with the standard dose. Although fatigue and general feeling during treatment were worse for standard dose, haematological toxicity and depression did not differ between groups. Conclusion, A lower dose of peginterferon is associated with some symptomatic benefit, but the response is not equivalent to standard dosing. [source] Distribution of fimA genotypes of Porphyromonas gingivalis in subjects with various periodontal conditionsMOLECULAR ORAL MICROBIOLOGY, Issue 4 2004C. G. Missailidis Fimbria encoded by the gene fimA is considered one of the main factors in the colonization of the oral cavity by Porphyromonas gingivalis. Allelic variation in fimA led to the classification of strains of P. gingivalis into six genotypes. The occurrence of P. gingivalis was determined by polymerase chain reaction using 16S rRNA primers in 302 subgingival samples obtained from 102 Brazilian subjects exhibiting different periodontal conditions. Distribution of fimA genotypes was assessed in 146 P. gingivalis positive samples by polymerase chain reaction using primers pairs homologous to the different fimA genes. P. gingivalis was detected in 51 of 57 (89.4%) patients with periodontal attachment loss, in six of 20 gingivitis patients (30.0%) and in two of 25 (8.0%) subjects with a healthy periodontium. Variant type II was the only type detected in 53 sites (39.3%), distributed among 19 periodontitis patients (37.3%) and in one patient with no periodontal destruction. Type Ib was the second most prevalent genotype in periodontitis patients (19.6%). Genotype V was not detected in the studied population. Type IV was the most commonly type found among gingivitis patients, either alone or in combination with other genotypes. Multiple genotypes were detected in nine sites (6.1%). A fimA genotype was not identified in 26 sites (17.8%) of 146 sites positive for P. gingivalis, suggesting that other alleles of fimA not yet sequenced may be prevalent in this population. These data demonstrated that P. gingivalis type II strains followed by type Ib are more prevalent in periodontitis patients from a multiracial population in Brazil, suggesting an increased pathogenic potential of these types. [source] Angiotensin-converting enzyme polymorphism gene and evolution of nephropathy to end-stage renal diseaseNEPHROLOGY, Issue 4 2003M Angels ORTIZ SUMMARY: Genetic polymorphisms of the renin-angiotensin system (RAS) have been implicated in the pathogenesis of nephropathy and end-stage renal disease (ESRD). The association between angiotensin-converting enzyme (ACE) gene polymorphism and nephropathy evolution was studied. A random sample of 161 subjects from the Nephrology Department (of Hospital de Sant Pau) were divided into two groups: (i) 117 with end-stage renal disease; (ii) 44 with established nephropathy; and (iii) control groups of 129 subjects. The ACE gene polymorphism was performed by using polymerase chain reaction. High DD genotype presentation was observed in the two groups of subjects with nephropathy (46.12 and 61.37%, respectively vs 35.66% in controls; P < 0.0482), and also, a decrease was observed in the II genotype (6.4 and 4.54%, respectively vs 13.17% in controls, P < 0.0404). Glomerular filtration rate (GFR) was evaulated after 44 months of follow up. An important decrease of GFR was observed in patients with DD polymorphism versus other genotypes (initial, 32.3 ± 7.9 and at 44 months, 18.35 ± 3.3 mL/min vs 31.4 ± 11.9 and 11.7 ± 3.2 mL/min; P < 0.039). In a non-longitudinal study of patients in ESRD, patients with an ACE-DD genotype had a lower period of time between diagnosis of nephropathy and ESRD than patients with other genotypes (10.45 ± 9.32 vs 19.5 ± 8.4 years; P < 0.034). In conclusion, the ACE gene that controls RAS response may influence the development and progression of nephropathy to ESRD. Patients who develop several types of nephropathy have a higher risk of severe evolution if they have a profile of ACE-DD genotype. [source] Genotypic difference for the susceptibility of Japanese, Chinese and European pears to Venturia nashicola, the cause of scab on Asian pearsPLANT BREEDING, Issue 4 2008K. Abe Abstract Venturia nashicola, the cause of scab on Asian pears, is distinct from Venturia pirina, a causal fungus of European pear scab. Although scab caused by V. nashicola is one of the most serious diseases in the Japanese pear (Pyrus pyrifolia Nakai var. culta Nakai), information available regarding resistant breeding against V. nashicola is limited. In this study, 12 genotypes of Japanese pear, seven genotypes of Chinese pear (Pyrus ussuriensis Maxim.) and four genotypes of European pear (Pyrus communis L. var. sativa DC.) and/or their offspring were evaluated for susceptibility to V. nashicola with leaf and fruit inoculation tests. At 30,40 days after full bloom in their developmental stage, unfolded young leaves and fruit were inoculated with conidial suspensions of V. nashicola for each genotype, and the responses were rated at 30 days postinoculation for the inoculated leaves and at 42 days postinoculation for the inoculated fruits. No visible symptoms were found in European pear ,Bartlett' and ,La France' and their respective offspring ,290-36' and ,282-12', in the Japanese pear ,Kinchaku' and in the Chinese pears ,Cangxili' and ,Hongli'; these genotypes were evaluated as highly resistant to V. nashicola. Necrotic lesions without sporulation were observed in the Chinese pears ,Qiubaili', ,Manyuanxiang', ,Yuanbali' and ,Xiangyali', which were regarded as resistant. Sporulating lesions were formed on the other genotypes, such as the major Japanese pear cultivars ,Kosui' and ,Nijisseiki', which were regarded as susceptible. The response of inoculated leaves coincided well with that of inoculated fruit for each genotype. When the severity of scab symptoms on scab-susceptible genotypes was further rated with disease severity (DS) values, a genotypic difference was observed for overall DS values in a successive 2-year measurement among the susceptible genotypes. Based on the DS values of leaf and fruit scabs, the Japanese pears ,Niitaka', ,Shinko', ,Nijisseiki', ,Gold Nijisseiki', ,Osa Nijisseiki' and ,Shinsui' were considered to be less susceptible to V. nashicola than the typical susceptible cultivar ,Kosui'. [source] Plant regeneration through callus initiation from mature embryo of TriticumPLANT BREEDING, Issue 1 2007R. M. Bi Abstract The behaviour of diverse Triticum genotypes in the tissue culture response of mature embryo callus was compared, and factors affecting tissue culture response were studied in this paper. Significant differences were detected in callus induction, embryogenic callus differentiation, plantlet regeneration and culture efficiency when mature embryos of 31 plants of different Triticum species were compared. These were the main wheat cultivars of the Chinese northern winter-type wheat region and breeding lines (Triticum aestivum L.), durum wheat (Triticum durum Desf.), cultivable emmer wheat (Triticumdicoccum Schuble) and the common wheat progenitors Triticum dicoccoides and Triticum aegilopides. The genotype dependency was particularly high in tissue culture of mature embryos of these Triticum genotypes. The efficiency of induction, differentiation and regeneration of mature embryos callus was high in genotypes selected out. Mature embryo-derived callus of HB341, TS021, SN2618, T. dicoccum, HB188, and T9817 showed better tissue culture response than the other genotypes. Plantlets can be regenerated from mature embryo-derived callus of 31 genotypes, saving on growth facility resources and time required for the collection of other explants, and providing a solid basis for the genetic transformation and molecular plant breeding of Triticum plants. [source] Quality effect of wheat-rye (1R) translocation in ,Pavon 76'PLANT BREEDING, Issue 4 2005W. Kim Abstract A growing interest exists in using wheat for producing both hard and soft wheat products. It would be desirable if 1RS translocations in hard wheat could produce flour suitable for soft wheat products. The objective of this study was to test the effects of centric translocations of chromosome 1 from different rye sources for end-use quality. The quality influences of the 1RS and 1RL translocations and 1R substitutions from different rye sources were studied in a set of hard spring wheat ,Pavon 76'(CIMMYT) lines in three environments in Georgia. The protein concentration of the 1RL translocations was the highest while the 1RS translocations showed no difference in protein concentration compared with that of controls. The 1RS translocations increased alkaline water retention capacity while the 1RL translocations reduced it. T1DSAE1RL was preferred for soft wheat products over other genotypes. [source] Effect of parental genotypes and colchicine treatment on the androgenic response of wheat F1 hybridsPLANT BREEDING, Issue 4 2003I. Zamani Abstract The effect of the parental genotypes and colchicine treatment on the androgenic response of wheat (Triticum aestivum L.) F1 hybrids was studied. For this, anthers from three F1 hybrids and their parents were cultured on W14 initiation medium and W14 supplemented with 0.03% colchicine. The number of responding anthers, microspore-derived structures/100 anthers, green plants/embryos cultured, green plants/100 anthers and albino plants/100 anthers were recorded. It was observed that embryo formation and plant regeneration ability were genetically controlled and genotype dependent. In both treatments the variety Kavkaz had a significantly higher percentage of responding anthers, microspore-derived structures and green plants/100 anthers than the other genotypes. On the other hand, the variety Myconos also demonstrated high microspore-derived structure production and green plant regeneration when treated with colchicine. The good response observed in these two varieties indicates the importance of colchicine treatment only for certain genotypes. Green plant production capacity of the hybrids was intermediate to that of the parental varieties. As one parent with a high or even an intermediate response to anther culture could lead to the production of sufficient (for breeding purposes) green plants from the F1 hybrids, it was concluded that screening the inbred lines for the response to anther culture with and without colchicine treatment could contribute to utilization of breeding material with a low response to anther culture via the proper hybrid combinations. [source] Genetic polymorphisms and antiviral activity in the bovine MX1 geneANIMAL GENETICS, Issue 3 2004Y. Nakatsu Summary Bovine MX1 cDNAs consisting of 2280 bp from 11 animals of five breeds and from a cultured cell line were sequenced and compared with previously reported data. Ten nucleotide substitutions were synonymous mutations, and a single nucleotide substitution at 458 resulted in an amino acid exchange of Ile (ATT) and Met (ATG). A 13-bp deletion,insertion mutation was also found in the 3,-UTR. Based on the nucleotide substitutions found in this study, bovine MX1 cDNA was classified into 11 genotypes. A phylogenetic tree of the 11 genotypes suggested that the genotypes observed in Brahman were a great genetic distance from other genotypes. An 18-bp deletion,insertion variation at position 171 was found to be the result of alternative splicing. The 18-bp deletion,insertion is located at the boundary between exon 3 and intron 3. Permanently transfected 3T3 cell lines expressing bovine MX1 mRNA were established to analyse the antiviral potential against VSV,G*-G infection. Transfected cell clones expressing bovine MX1 mRNA showed a significantly smaller number of cells infected with VSV,G*-G compared with the control cells. These results indicate that the bovine MX1 protein has potent antiviral activity. [source] Changes in peroxisome proliferator-activated receptor gamma gene expression of chicken abdominal adipose tissue with different age, sex and genotypeANIMAL SCIENCE JOURNAL, Issue 3 2009Kan SATO ABSTRACT Peroxisome proliferatior-activated receptor gamma (PPAR,) is a transcription factor that regulates adipocyte differentiation, and the activation of PPAR, increases fat deposition in growing chickens. The aim of the present study was to investigate whether the levels of PPAR, gene expression were related to fat pad weight in abdominal adipose tissue in growing chickens with different genotype and sex. Body weight and abdominal adipose tissue weight in broiler chickens (Ross strain) were higher than the other genotypes (Road Island Red, White Leghorn, and Japanese native poultry (Tsushima)) at 3 and 5 weeks of age. PPAR, mRNA expression in abdominal adipose tissue tended to increase with age, as evidenced by higher expression levels at 5 weeks than at 1 week of age in all sex and genotype of chickens. In broiler chickens, the PPAR, expressions were significantly higher than the other genotypes. PPAR, mRNA expression levels in abdominal adipose tissue of female chickens rapidly increased at 3 weeks, and were unchanged until 5 weeks, while those in male chickens gradually increased until 5 weeks. In addition, abdominal adipose tissue weight was correlated with PPAR, expression levels. These results demonstrated that PPAR, gene expression is a useful marker of fat deposition in chickens, suggesting that PPAR, is a key factor of fat accumulation in chicken abdominal fat pad. [source] Osmotic adjustment of chickpea (Cicer arietinum) is not associated with changes in carbohydrate composition or leaf gas exchange under droughtANNALS OF APPLIED BIOLOGY, Issue 2 2007P.S. Basu Abstract Genetic differences in osmotic adjustment (OA) have been reported among chickpea (Cicer arietinum) cultivars. In this study eight advanced breeding lines (ABLs) derived from a cross between CTS 60543 (high OA) and Kaniva (low OA) and Tyson (medium OA) and Kaniva, along with the parents, were evaluated for OA, leaf carbohydrate composition and leaf gas exchange under dryland field conditions in India. The water potential (WP) decreased to lower values (less than ,2.5 MPa) in Tyson, M 110 and M 86 than in the other genotypes. With decrease in WP, OA increased by 0.5 MPa in Kaniva and CTS 60543 to 1.3 MPa in M 55. As the decrease in WP varied with genotype, when OA was regressed against WP M 39 and M 55 had greater increases in OA with decrease in WP than the remaining nine genotypes, including the parents. As WP decreased, leaf starch content decreased while total soluble sugars, hexoses and sucrose increased: the decrease in starch was much smaller in M 93 and M 129 than in Tyson and M 51, but genotypic differences could not be detected in the increase in total sugars, hexoses or sucrose. The rates of photosynthesis and transpiration decreased as the WP became more negative, but M 129 reached low rates of photosynthesis (2 ,mol m,2 s,1) and transpiration at a WP of ,1.7 MPa, whereas Tyson reached the same low rate at ,2.4 MPa. While OA varied among the chickpea genotypes, the differences were not associated with the changes in carbohydrate composition or the rates of gas exchange at low values of WP. Further, the degree of OA of the 11 genotypes was not the same as when they were selected for differences in OA under rainout shelter conditions in the field in Australia, suggesting that OA may show poor stability depending upon the stress level, location or physiological stage of the plant. This suggests that OA is not a valuable drought-resistance trait to select for in chickpea breeding programmes. [source] Association of adrenergic receptor gene polymorphisms with different fibromyalgia syndrome domainsARTHRITIS & RHEUMATISM, Issue 7 2009Gilberto Vargas-Alarcón Objective Fibromyalgia (FM) patients have signs of relentless sympathetic hyperactivity associated with hyporeactivity to stress. Adrenergic receptors (ARs) are parts of the sympathetic nervous system that are fundamental for maintenance of homeostasis. We undertook this study to correlate ,-AR and ,-AR gene polymorphisms with the presence of FM and with different domains of the FM syndrome as measured by the Fibromyalgia Impact Questionnaire (FIQ). Methods We studied 78 Mexican FM patients and 48 age-matched controls as well as 78 Spanish FM patients and 71 controls. All subjects studied were women. Single-nucleotide polymorphisms (SNPs) of ,1A -AR (rs574584, rs1383914, rs1048101, and rs573542), ,2 -AR (rs1042713 and rs1042714), and ,3 -AR (rs4994) were analyzed by 5, exonuclease TaqMan polymerase chain reaction. Polymorphic haplotypes were constructed after linkage disequilibrium analysis. Results The ,2 -AR AC haplotype was a risk factor for the presence of FM. This haplotype had an increased frequency in Mexican patients compared with Mexican controls (42.1% versus 30.5%; P = 0.04). Similarly, 50.4% of Spanish patients had this haplotype compared with 40.0% of Spanish controls (P = 0.05). In Spanish patients, the ,1A -AR SNP rs1383914 was associated with the presence of FM (P = 0.01), and the ,1A -AR SNP rs1048101 was linked with FIQ disability (P = 0.02). Mexican patients with the rs574584 GG genotype presented the highest FIQ score compared with Mexican patients with other genotypes (P = 0.01), and in Mexicans SNP rs574584 was associated with FIQ morning stiffness (P = 0.04) and with FIQ tiredness upon awakening (P = 0.02). Conclusion AR gene polymorphisms are related to the risk of developing FM and are also linked to different domains of the FM syndrome. [source] Role of the Fc, receptor IIa polymorphism in susceptibility to systemic lupus erythematosus and lupus nephritis: A meta-analysisARTHRITIS & RHEUMATISM, Issue 6 2002Fotini B. Karassa Objective To assess the impact of the Fc, receptor type IIa (Fc,RIIa),R/H131 polymorphism on the risk for systemic lupus erythematosus (SLE) and development of lupus nephritis. Methods A meta-analysis was performed based on the Medline and Embase databases (last retrieval August 2001), assessment of bibliographies of pertinent articles, and additional data gathered after contact with primary investigators. Results A total of 25 comparisons from 17 studies involving R/H131 genotyping of 1,405 patients with lupus nephritis, 1,709 SLE patients without nephritis, and 2,580 non-SLE controls were included. No association between RR genotype and risk of lupus nephritis relative to both other genotypes (odds ratio [OR] 1.05, 95% confidence interval [95% CI] 0.88,1.27) was demonstrated in the total meta-analysis or in any racial subgroup. The RR genotype was more frequent in SLE patients as a whole (OR 1.30, 95% CI 1.10,1.52) and in SLE patients without nephritis (OR 1.27, 95% CI 1.04,1.55) compared with disease-free controls. A potential dose,response relation between the R131 allele and the risk of SLE was also identified, with an OR of 1.23 for RR versus RH (95% CI 1.03,1.46). The OR was 1.55 for RR versus HH (95% CI 1.21,1.98). There was no significant heterogeneity between racial subgroups. The population-attributable fractions of SLE cases due to the Fc,RIIa-R131 allele were 13%, 40%, and 24% in subjects of European, African, and Asian descent, respectively. Conclusion The Fc,RIIa-R/H131 polymorphism represents a significant risk factor for SLE but has no clear effect on susceptibility for lupus nephritis. [source] Single nucleotide polymorphism in CTH associated with variation in plasma homocysteine concentrationCLINICAL GENETICS, Issue 6 2004J Wang Plasma total homocysteine (tHcy) concentration, an independent risk factor of atherosclerosis, has numerous genetic and environmental determinants. While the thermolabile polymorphism in MTHFR encoding methylenetetrahydrofolate reductase is the best-studied genetic factor associated with variation in plasma tHCy, other candidate genes are being evaluated. Recently, we discovered that cystathioninuria was caused by mutations in the CTH gene encoding cystathionine ,-lyase, an enzyme that converts cystathionine to cysteine in the trans-sulfuration pathway. We also identified a common single nucleotide polymorphism (SNP), namely c.1364G>T (S403I) in exon 12 of CTH. In the current analysis, we studied the association of genotypes of this SNP with plasma tHcy concentrations in 496 Caucasian subjects. CTH 1364T/T homozygotes had significantly higher mean plasma tHcy concentration than subjects with other genotypes, and the effect sizes of CTH and MTHFR genotypes were similar. The findings suggest that common variation in CTH may be a determinant of plasma tHcy concentrations. [source] | ||||||||||||||||