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Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.

ABSTRACT: PURPOSE: Age-related cataract (ARC) is a complex multi-factorial disorder involving several genetic and environmental factors. The major intrinsic protein of lens fiber gene (MIP) encodes the most abundant junctional membrane protein in the mature lens and plays a critical role in maintainace of lens normal structure and internal circulation. To determine the relationship between single nucleotide polymorphisms (SNPs) in MIP and the susceptibility to ARC in a Chinese population, we conducted this case-control study. METHODS: A total of 164 unrelated ARC patients and 132 normal controls were involved in the study. All participants completed full physical and ophthalmic examinations and provided a blood sample for DNA extraction. Seven SNPs (rs2269348, rs61759527, c.-4T>C, rs77163805, rs74641138, rs35033450, and rs36032520) in MIP were amplified by polymerase chain reaction (PCR) and then sequenced. Statistical analysis was performed using SNPstats. RESULTS: Polymorphisms rs61759527, rs77163805, rs35033450, and rs36032520 were not detected in all 296 subjects. There were no statistical differences in genotype or allele frequency of rs2269348 and rs74641138 between ARC cases and controls. But in c.-4C>T, cataract patients had a higher TC genotype and C allele frequencies (p=0.0018 and p=0.017, respectively) compared to healthy controls. The haplotype CCG of rs2269348, c.-4T>C and rs74641138 also exhibited a significantly higher distribution in cases than controls (OR=8.83, p=0.0024). CONCLUSIONS: Our findings indicate that the genotype TC in polymorphism c.-4T>C and haplotype CCG of rs2269348, c.-4T>C, and rs74641138 in MIP may attach an additional genetic risk factor for ARC in Chinese. This is the first association study about SNPs in MIP and susceptibility to ARC in Chinese population.

SUBMITTER: Zhou Z

PROVIDER: S-EPMC3171496 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.

Zhou Zhou Z Wang Binbin B Luo Yongfeng Y Zhou Guangkai G Hu Shanshan S Zhang Han H Ma Xu X Qi Yanhua Y

Molecular vision 20110825

<h4>Purpose</h4>Age-related cataract (ARC) is a complex multi-factorial disorder involving several genetic and environmental factors. The major intrinsic protein of lens fiber gene (MIP) encodes the most abundant junctional membrane protein in the mature lens and plays a critical role in maintainace of lens normal structure and internal circulation. To determine the relationship between single nucleotide polymorphisms (SNPs) in MIP and the susceptibility to ARC in a Chinese population, we conduc ...[more]

PMID: 21921980

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Project description:PURPOSE: The gene for Eph-receptor tyrosinekinase-type A2 (EPHA2) has been shown to be involved in the pathogenesis of age-related cataract (ARC). The aim of this study was to examine whether EPHA2 polymorphisms were associated with the susceptibility to age-related cortical cataract in a Han Chinese population. METHODS: Five single-nucleotide polymorphisms (SNPs)-rs3768293, rs3754334, rs7548209, rs707455, and rs477558-in the EPHA2 gene were genotyped in 422 Han Chinese patients with age-related cortical cataract and 317 age-, sex-, and ethnically matched healthy controls using a PCR restriction fragment length polymorphism (PCR-RFLP) assay. Data were analyzed by ?(2) analysis. RESULTS: The results showed that the five analyzed polymorphisms in EPHA2 were in Hardy-Weinberg equilibrium both in the patients and in the controls. The frequency of the rs477558 AA genotype was signi?cantly increased in ARC patients compared with controls (?(2)=8.649, pc=0.045, odds ratio [OR] 1.555, 95% CI 1.158 to 2.089). The frequency of the rs477558 AG genotype was signi?cantly decreased in ARC patients compared with controls (?(2)=9.281, pc=0.030, OR 0.626, 95% CI 0.463 to 0.847). Signi?cantly higher frequencies of the GG genotype and the G allele of rs7548209 were observed in ARC patients compared with controls (?(2)=10.430, pc=0.015, OR 1.660, 95% CI 1.219 to 2.261 and ?(2)=8.537, pc=0.015, OR 1.486, 95% CI 1.138 to 1.940, respectively). On the other hand, signi?cantly decreased frequencies of the rs7548209 CG genotype and the C allele were observed in ARC patients compared with controls (?(2)=9.999, pc=0.030, OR 0.603, 95% CI 0.440 to 0.826 and ?(2)=8.537, pc=0.015, OR 0.673, 95% CI 0.515 to 0.879, respectively). There was no difference in the frequencies of the genotype and allele of the rs3768293, rs3754334, and rs707455 SNPs between the patients with ARC and the controls. CONCLUSIONS: Our study suggests that both SNP rs477558 and SNP rs7548209 of EPHA2 are associated with age-related cortical cataract in a Han Chinese population.

Dataset Information

Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.

Publications

Major intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.

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