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Association of complement factor H gene polymorphisms with age-related macular egeneration susceptibility.

ABSTRACT: This study was aimed to confirm whether I62V and Y402H polymorphisms of complement factor H (CFH) were risk factors for age-related macular degeneration (AMD).109 AMD patients and 165 AMD-free controls were enrolled in the study. The I62V and Y402H polymorphisms were analyzed by polymerase chain reaction-restriction fragment length of polymorphism (PCR-RFLP). Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated by the X2 test to assess the relationship of I62V and Y402H polymorphisms with AMD risk. Analysis of haplotype and stratification by age and smoking status was conducted as well.AA genotype and A allele of I62V polymorphism was significantly associated with increased risk for AMD (OR=3.75, 95% CI=1.70-8.30; OR=1.64, 95% CI=1.14-2.36). For Y402H polymorphism, CT genotype showed strong effects on the occurrence of AMD (OR=2.10, 95% CI=1.04-4.27). Moreover, C allele was also a risk factor for AMD (OR=1.95, 95% CI=1.02-3.72). The haplotypes analysis suggested that the risk for AT haplotype carriers was high, compared with GT haplotype (OR=3.91, 95% CI=2.58-5.94). In addition, we found that smoking status could affect the genotype distribution of Y402H polymorphism (P<0.05).Our results revealed that CFH polymorphisms I62V and Y402H might be associated with the susceptibility to AMD in Chinese population.

SUBMITTER: Hao XF

PROVIDER: S-EPMC4440147 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Association of complement factor H gene polymorphisms with age-related macular egeneration susceptibility.

Hao Xiao-Feng XF Xie Li-Ke LK Tang You-Zhi YZ Xie Wan-Kun WK Zhang Zhi-Fang ZF Qi Yi-Xin YX Xiao Wen-Zheng WZ Zhang Jing J

International journal of clinical and experimental pathology 20150301 3

<h4>Objective</h4>This study was aimed to confirm whether I62V and Y402H polymorphisms of complement factor H (CFH) were risk factors for age-related macular degeneration (AMD).<h4>Method</h4>109 AMD patients and 165 AMD-free controls were enrolled in the study. The I62V and Y402H polymorphisms were analyzed by polymerase chain reaction-restriction fragment length of polymorphism (PCR-RFLP). Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated by the X2 test to assess the relati ...[more]

PMID: 26045838

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Project description:PurposeThe complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD). Complement factor I (CFI) is a serum protease that inhibits all complement pathways. A previous multicenter study identified a single missense CFI mutation (p.Gly119Arg) in 20/3,567 (0.56%) of AMD cases versus 1/3,937 (0.025%) of controls, thus suggesting that this mutation confers a high risk of AMD. A second CFI mutation, p.Gly188Ala, was identified in one patient with AMD.MethodsWe screened 521 unrelated AMD cases and 627 controls for the p.Gly119Arg and p.Gly188Ala variants. All participants were Caucasian and >55 years, and recruited through Southampton Eye Unit or research clinics in Guernsey. All participants underwent dilated fundal examination by an experienced retinal specialist. SNP assays were performed using KASP™ biochemistry.ResultsThe p.Gly119Arg mutation was identified in 7/521 AMD cases compared to 1/627 age-matched controls (odds ratio [OR] = 8.47, confidence interval [CI] = 1.04-69.00, p = 0.027). There was a varied phenotype among the seven cases with the mutation, which was present in 4/254 (1.6%) cases with active or end-stage wet AMD and 3/267 dry AMD cases (1.1%). The p.Gly188Ala substitution was identified in 1/521 cases and 1/627 controls.ConclusionsOur results identified a much higher frequency of heterozygosity for p.Gly119Arg in both cases and controls than in previous studies. Of note is that our sub-cohort from Guernsey had a particularly high frequency of p.Gly119Arg heterozygosity in affected individuals (4%) compared to our sub-cohort from the mainland (0.71%). Although these data support the conclusions of van de Ven et al. that the p.Gly119Arg substitution confers a high risk of AMD, our data suggest that this missense mutation is not as rare or as highly penetrant as previously reported. There was no difference in frequency for a second CFI variant, p.Gly188Ala, between the cases and the controls.

Dataset Information

Association of complement factor H gene polymorphisms with age-related macular egeneration susceptibility.

Publications

Association of complement factor H gene polymorphisms with age-related macular egeneration susceptibility.

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