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Gene Promoter Polymorphism (gene + promoter_polymorphism)

Distribution by Scientific Domains

Medical Sciences	94%

Kinds of Gene Promoter Polymorphism

il-18 gene promoter polymorphism

Selected Abstracts

The Influence of an Insulin-Like Growth Factor I Gene Promoter Polymorphism on Hip Bone Geometry and the Risk of Nonvertebral Fracture in the Elderly: The Rotterdam Study,

JOURNAL OF BONE AND MINERAL RESEARCH, Issue 8 2004
Fernando Rivadeneira
Abstract The absence of the wildtype allele of a promoter polymorphism of the IGF-I gene is associated with increased risk (1.5; 95% CI, 1.1-2.0) of fragility fracture in women (n = 4212) but not in men (n = 2799). An approximation of hip bone geometry (from DXA) suggested the polymorphism is associated with bone strength and stability in gender-specific ways. Introduction: Previously, we found a CA-repeat promoter polymorphism in the insulin-like growth factor I (IGF-I) gene associated with IGF-I levels and BMD in postmenopausal women, but the relationship with fractures is unclear. In this large population-based study of elderly men and women, we examined the association between this IGF-I promoter polymorphism with parameters of bone geometry and the occurrence of fractures. Material and Methods: Within the Rotterdam Study, a prospective population-based cohort, the IGF-I polymorphism was analyzed in relation to incident nonvertebral fractures in 2799 men and 4212 women followed on average for 8.6 years. Furthermore, we estimated structural parameters of hip bone geometry indirectly from DXA outputs of the femoral neck in 2372 men and 3114 women. We studied neck width, cortical thickness, and the cortical buckling ratio and the section modulus as indexes of bone stability and bending strength. Results: Women heterozygotes and noncarriers of the allele had, respectively, 1.2 (95% CI, 1.0-1.5) and 1.5 (95% CI, 1.1-2.0) increased risk of having a fragility fracture at older age compared with homozygotes for the 192-bp allele (p trend = 0.0007). In men, fracture risk was not influenced by the polymorphism. Compared with homozygotes for the 192-bp allele, noncarrier males had ,1% narrower femoral necks and 2.2% lower section moduli (p trend < 0.05). Noncarrier females had 1.7% thinner cortices and 1.6% higher buckling ratios (p trend < 0.05) but no significant differences in femoral neck widths and section moduli. In women with low body mass index, genotype differences in bone strength (section modulus) and fracture risk were accentuated (p interaction = 0.05). The genotype-dependent differences in hip bone geometry did not fully explain the genotype-dependent differences in fracture risk. Conclusions: The CA-repeat promoter polymorphism in the IGF-I gene is associated with the risk for fragility fracture at old age in women and with bone structure in both genders. [source]

Influence of Cyclooxygenase-2 (COX-2) Gene Promoter Polymorphism ,765 on Graft Loss After Renal Transplantation

AMERICAN JOURNAL OF TRANSPLANTATION, Issue 12 2009
C. Courivaud
A G,C polymorphism has been identified in the human cyclooxygenase-2 (COX-2) gene promoter at position ,765 with C allele leading to a decreased promoter activity with low prostaglandin E2 (PGE2) production. PGE2 has strong immunomodulatory properties that could influence graft survival. We studied the association between this polymorphism and allograft failure in two independent cohorts of renal transplant recipients (RTRs) including a total of 603 patients. The functional effect of COX-2 gene promoter polymorphism was analyzed by measuring serum levels of PGE2. Median follow-up was 8.7 and 7.9 years for the first and second cohort, respectively. Analysis of 603 patients identified 20 CC (3.3%), 179 GC (29.7%) and 404 GG (67%) carriers. Patients with the GG genotype had significantly higher serum PGE2 concentrations than patients with the C allele. Carriers with a C allele have an independent increased risk of graft loss (hazard ratio (HR) 2.43 [95% CI 1.19,4.97], p = 0.015 for cohort 1; HR 1.72 [95% CI 0.99,3.77], p = 0.051 for cohort 2) compared to GG patients. COX-2 gene promoter polymorphism at position ,765 (G,C) is associated with a higher rate of graft loss in RTRs. Such findings may be used to influence immunosuppressive strategies and optimize patient management. [source]

Heme Oxygenase-1 Gene Promoter Polymorphisms and Outcomes of Clinical Renal Transplantation

AMERICAN JOURNAL OF TRANSPLANTATION, Issue 5 2008
A. E. Courtney
No abstract is available for this article. [source]

Association of 5-HTT gene polymorphism, platelet MAO activity, and drive for thinness in a population-based sample of adolescent girls

INTERNATIONAL JOURNAL OF EATING DISORDERS, Issue 5 2008
Kirsti Akkermann MSc
Abstract Objective: Several lines of evidence suggest that alterations in serotonergic activity contribute to the pathophysiology of abnormal eating behaviors. Since platelet monoamine oxidase (MAO) activity and the 5-HT transporter gene promoter polymorphism (5-HTTLPR) have been associated with eating disorders, the knowledge from a population-based sample may provide useful information which changes in 5-HT function observed in eating disorders represent trait vs. state effects. Method: The sample was based on both cohorts of the Estonian Children Personality, Behavior and Health Study (ECPBHS). The current study was conducted during the second follow-up where altogether 82% from the original sample was recruited. EDI-2 subscales,Drive for Thinness and Bulimia,were used to determine eating attitudes and behaviors. Platelet MAO activity was measured and the participants were genotyped for the 5-HTTLPR. Results: Allelic variation of 5-HTTLPR or platelet MAO activity were not independently associated with drive for thinness or binge eating, but girls homozygous for the 5-HTTLPR long allele and with high platelet MAO activity, both considered indicators of a higher capacity 5-HT system, exhibited higher scores of drive for thinness. Conclusion: The results suggest that drive for thinness is the highest in girls with the presence of two markers of higher serotonergic capacity. © 2008 by Wiley Periodicals, Inc. Int J Eat Disord 2008 [source]

Interleukin-10 gene promoter polymorphism in Polish rheumatoid arthritis patients

INTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 4 2010
A. Paradowska-Gorycka
Summary Interleukin (IL)-10 is an important multifunctional cytokine with both anti-inflammatory and immunoregulatory effects in rheumatoid arthritis (RA). In the present study, we evaluated the frequency and potential impact of IL-10 promoter polymorphisms on susceptibility to and severity of RA in Polish in , patients with a high disease activity (mean DAS 28 C-reactive protein 5.25). DNA was obtained from 244 RA patients and 106 healthy controls. The ,592C/A and ,1082G/A IL-10 gene polymorphisms were amplified by polymerase chain reaction with restriction endonuclease mapping. The frequency of the IL-10-592CA, -592AA genotypes (respectively: 30% vs 5% and 7% vs 0%) and allele ,592A (37% vs 5%) were significantly higher in RA patients as compared with a control group. We did not find any association of the IL-10-592C/A genotype distribution with disease parameters, except for an increased ESR (erythrocyte sedimentation rate) in patients with the ,592CC genotype as compared with those with ,592CA or ,592AA genotypes (P = 0.01). The frequency of the IL-10-1082GG genotype was lower (P = 0.0001), and that of the IL-10-1082GA genotype was higher (P = 0.009) in RA patients comparing with the control group. In RA patients with ,1082GA or ,1082AA genotypes the time duration of the disease (P = 0.03), Health Assessment Questionnaire (HAQ) Score (P = 0.04) and PLT count (P = 0.001) were significantly increased as compared with subjects with ,1082GG genotype. Presented findings indicate that IL-10-592C/A and IL-10-1082G/A polymorphisms may be considered genetic risk factors for RA susceptibility and severity. [source]

Investigation of matrix metalloproteinase-1 ,1607 1G/2G polymorphism in a Turkish population with periodontitis

JOURNAL OF CLINICAL PERIODONTOLOGY, Issue 12 2008
Kemal Ustun
Abstract Aim: Matrix metalloproteinase-1 (MMP-1) is a proteolytic enzyme that degrades extracellular matrix and plays a fundamental role during destruction of periodontal tissues. The aim of this study was to examine the association between MMP-1 ,1607 1G/2G polymorphism and chronic periodontitis susceptibility in a Turkish population. Material and Methods: A total of 180 subjects were enrolled in this study. All the subjects received a periodontal examination including full-mouth clinical attachment loss measurements, probing depths, plaque index scores, gingival index scores and radiographic bone loss ratios. Three groups formed according to periodontal conditions were healthy, moderate periodontitis and severe periodontitis groups. MMP-1 ,1607 1G/2G gene promoter polymorphism was genotyped using a polymerase chain reaction-restriction fragment length polymorphism method. Results: Analysis of the polymorphism showed no differences in distribution of the MMP-1 ,1607 1G/2G polymorphism among healthy, moderate periodontitis and severe periodontitis groups (p>0.05). When the groups were further stratified by smoking status, we found no significant differences in genotype distributions, allele frequencies and carriage rates among any groups either (p>0.05). Conclusions: On the basis of the results, no significant association is found for the MMP-1 ,1607 1G/2G polymorphism with susceptibility to periodontitis. Moreover, smoking status did not seem to affect this result. [source]

Tumor necrosis factor gene promoter polymorphism and recurrent hepatitis C after liver transplantation: The missing link to pathogenesis or a casual association?

LIVER TRANSPLANTATION, Issue 3 2000
Nizar N. Zein MD
[source]

Influence of Cyclooxygenase-2 (COX-2) Gene Promoter Polymorphism ,765 on Graft Loss After Renal Transplantation

A poly(ADP-ribose) polymerase haplotype spanning the promoter region confers susceptibility to rheumatoid arthritis

ARTHRITIS & RHEUMATISM, Issue 3 2003
M. Pascual
Objective To investigate the association of the poly(ADP-ribose) polymerase 1 (PARP-1) gene promoter polymorphism with rheumatoid arthritis (RA) predisposition. Methods An association study with 213 Spanish RA patients and 242 healthy subjects was carried out to investigate the association of all known PARP-1 gene promoter polymorphisms, i.e., a CA microsatellite repeat, a poly(A)n, and 3 single point mutations (C410T, C1362T, and G1672A), with disease susceptibility. Additionally, we analyzed the distribution of PARP-1 polymorphisms in 58 Spanish families with 1 or more affected members. Results Upon complete genotyping of the panel of 455 samples, strong linkage disequilibrium was observed among the 5 PARP-1 polymorphisms. Only 2 PARP-1 haplotypes were detected: haplotype A (410T,[A]10,[CA]10,12,1362C, which includes short PARP-1 CA alleles) and haplotype B (410C,[A]11,[CA]13,20,1362T, always paired with long PARP-1 CA variants). Regarding the G1672A variation, although linkage disequilibrium was detected, it did not seem to be part of the conserved haplotypes described. Haplotype B was statistically overrepresented in the RA patient group compared with the healthy subjects (odds ratio 1.42, 95% confidence interval 1.06,1.91, P = 0.019). In addition, a significant dose effect of PARP-1 haplotype carriage on disease predisposition was observed. Of note, within haplotype B, the PARP-1 CA 97-bp allele was found to be the RA-predisposing marker (odds ratio 2.17, 95% confidence interval 1.27,3.72, P = 0.003, corrected P < 0.05). Conclusion Our results demonstrate the existence of 2 unique PARP-1 haplotypes in the Spanish population and provide the first evidence that PARP-1 haplotypes play a role in susceptibility to RA. [source]

Prolonged unconjugated hyperbilirubinaemia associated with the haem oxygenase-1 gene promoter polymorphism

ACTA PAEDIATRICA, Issue 5 2010
OG Bozkaya
Abstract Aim:, To elucidate the genetic factors causing hyperbilirubinaemia in prolonged jaundice of the newborns, we investigated whether the HO-1 gene promoter polymorphism is a cause in unexplained pathological or prolonged jaundice. Methods:, Three groups were defined: healthy newborns with no clinical jaundice, newborns hospitalized for jaundice without any identifiable pathological cause and newborns with prolonged jaundice associated with breast milk. Genomic DNA was extracted from the white blood cells and the promoter region of the HO-1 gene was amplified using PCR and their allelic repeats were determined. Results:, We did not detect any significant difference in the allele frequencies between the healthy newborns and the newborns whose serum total bilirubin levels were >12.9 mg/dL. However, the patients with short (<24 GT) dinucleotide repeat in the HO-1 gene promoter on either allele had significantly higher prolonged unconjugated hyperbilirubinaemia than the healthy newborns. There was no significant difference between the groups 2 and 3. Conclusion:, The results indicate that polymorphism of HO-1 gene promoter region can be an underlying cause of the prolonged unconjugated hyperbilirubinaemia associated with breast milk. In this patient population, short repeat alleles of the HO-1 gene promoter polymorphism were associated with prolonged jaundice. [source]

Association between IL-18 gene promoter polymorphisms and inflammatory bowel disease in a Japanese population

INFLAMMATORY BOWEL DISEASES, Issue 12 2005
T Takagawa MD
Abstract Background: Interleukin-18 (IL-18) is a pleiotropic cytokine that induces the production of interferon (IFN)-, and also to regulate Th2 cytokines. Recently, association studies between IL-18 gene promoter polymorphisms and several Th1- or Th2-mediated inflammatory diseases were reported. In inflammatory bowel diseases (IBD), including ulcerative colitis (UC) and Crohn's disease (CD), recent evidence suggests that IL-18 is involved in the pathogenesis. Methods: Using DNA direct sequencing, we investigated IL-18 gene promoter polymorphisms at ,607C/A and ,137G/C. Allele, genotype, and haplotype frequencies were determined in 210 Japanese patients with UC, 205 patients with CD, and 212 controls. Results: In UC, the ,137C allele frequency was significantly higher in the proctitis-type patients than in controls (Pc = 0.0068). The ,137 genotype frequency was also significantly different in the proctitis-type patients than in controls (Pc = 0.032). No other allele and genotype frequencies were significantly associated with UC after Bonferroni correction. Furthermore, the frequency of haplotype 2 (,607A, ,137C), which had a lower promoter activity and IFN-, mRNA level than the other haplotypes as previously reported, was significantly higher in the proctitis-type patients than in controls (Pc = 0.01). In CD, we could not find any significant differences. Conclusions: IL-18 gene promoter polymorphisms may not be associated with disease susceptibility but related to the extent of disease in UC. [source]

Promoter polymorphism of IL-18 gene in pulmonary tuberculosis in South Indian population

INTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 5 2007
M. Harishankar
Summary Interleukin-18 (IL-18) plays a vital role in both innate and acquired immunity. We analysed polymorphisms at ,607(C/A) and ,137(G/A) in the promoter region of IL-18 gene by allele-specific polymerase chain reaction in normal healthy subjects (n = 173) and patients with pulmonary tuberculosis (n = 165). Allele, genotype and haplotype frequencies did not differ significantly between normal healthy subjects and patients. The results suggest that the IL-18 gene promoter polymorphisms are not associated with susceptibility or resistance to pulmonary tuberculosis in south Indian population of Dravidian descent. [source]

IL-18 gene promoter ,137C/G and ,607C/A polymorphisms in Chinese Han children with type 1 diabetes mellitus

INTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 2 2007
G. P. Dong
Summary Type 1 diabetes mellitus (T1DM) is a heterogeneous autoimmune disease, and both environmental and genetic factors play a role in its pathogenesis. Interleukin (IL)-18 is a potent pro-inflammatory cytokine capable of inducing interferon-gamma production that is associated with the development of T1DM. The gene for IL-18 is located on chromosome 11q22.2-q22.3 and has been reported to be associated with a susceptibility to T1DM. To test the putative involvement between IL-18 gene polymorphism and predisposition to T1DM, we conducted a case-control study in Chinese Han children. The single nucleotide polymorphisms at position ,607(C/A) and ,137(C/G) in the promoter region of the IL-18 gene were analysed by sequence-specific primers-polymerase chain reaction in 118 patients with T1DM and 150 healthy controls. (1) The allele frequency of ,607A was 41.2% and 53.0%, respectively, in patients and in control subjects (P = 0.01), but the allele frequency of ,137C/G was not statistically significant (P = 0.37). (2) The distribution of CC genotype at position ,607 was significantly different between patients and normal controls (P = 0.03), while the distribution of AA genotype in patients was significantly lower than that in the controls (P = 0.03). (3) Furthermore, there was a significant increase in haplotype (,137C/,607G) and genotype combination (,137GG/ ,607CC) in patients compared with controls (P = 0.03 and P = 0.04, respectively). The results of this study show that IL-18 gene promoter polymorphisms confer susceptibility to T1DM in Chinese Han children. Moreover, subjects carrying AA genotype at position ,607 of the promoter of IL-18 gene may be a low risk of T1DM development. [source]

Genetic polymorphisms in the MMP-1 and MMP-3 gene may contribute to chronic periodontitis in a Brazilian population

JOURNAL OF CLINICAL PERIODONTOLOGY, Issue 10 2006
Claudia Maria Astolfi
Abstract Objectives: Matrix metalloproteinase-1 and -3 (MMP-1, MMP-3) represent proteinases that degrade macromolecules of the extracellular matrix. These enzymes play a fundamental role during destruction of periodontal tissues. Genetic polymorphisms were characterized in the promoter region of the MMP-1 and MMP-3 genes. The aim of this study was to investigate the relationship between these genetic variations with chronic periodontitis in a Brazilian population. Material and Methods: Non-smoking subjects (n=114) exhibiting sites 5 mm clinical attachment loss were recruited for study. Control subjects (n=109) should not exhibit clinical signals of periodontitis. MMP-1 (,1607 1G/2G, ,519 A/G) and MMP-3 (,1612 5A/6A) gene promoter polymorphisms were genotyped using PCR-RFLP methods. Results: Analysis of polymorphisms showed no differences in distribution of the ,1607 1G/2G and ,519 A/G variants in the MMP-1 gene between the healthy and periodontitis group (p>0.05). However, the distribution of genotype frequencies of the ,1612 5A/6A polymorphism in the MMP-3 gene showed that the 5A/5A genotype was significantly more frequent in the periodontitis group (p=0.008). The same was not observed in the 5A/6A genotype once only one 5A allele is carried. We also observed a trend to increase the frequency of the MMP-1/MMP-3 haplotype (2G/5A) in the periodontitis group (p=0.08). Conclusion: On the basis of the results, no significant association is found for the MMP-1 polymorphisms with susceptibility of periodontitis, while the MMP-3 gene polymorphism may contribute to periodontal tissue destruction during periodontitis in Brazilian subjects. [source]