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Common variants in chromosome 4q25 are associated with myopia in Chinese adults
Author(s) -
Gao Yang,
Wang Panfeng,
Li Shiqiang,
Xiao Xueshan,
Jia Xiaoyun,
Guo Xiangming,
Zhang Qingjiong
Publication year - 2012
Publication title -
ophthalmic and physiological optics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.147
H-Index - 66
eISSN - 1475-1313
pISSN - 0275-5408
DOI - 10.1111/j.1475-1313.2011.00885.x
Subject(s) - single nucleotide polymorphism , genotype , genome wide association study , genetics , allele , locus (genetics) , chromosome , polymorphism (computer science) , biology , medicine , gene
Citation information: Gao Y, Wang P, Li S, Xiao X, Jia X, Guo X & Zhang Q. Common variants in chromosome 4q25 are associated with myopia in Chinese adults. Ophthalmic Physiol Opt 2012, 32, 68‐73. doi: 10.1111/j.1475‐1313.2011.00885.x Abstract Purpose: A genome‐wide association study (GWAS) of high myopia found that five single nucleotide polymorphisms (SNPs) in 4q25 were associated with high myopia. The original study suggested replication studies were needed to validate these results. The aim of our study was to examine if these SNPs are associated with myopia in a different set of samples. Methods: Genomic DNA was collected from 2307 unrelated individuals, including 1052 university students without myopia and 1255 university students with myopia (615 students with moderate myopia and 640 students with high myopia). Four of the five reported SNPs at 4q25, rs2218817, rs10034228, rs1585471 and rs6837348, were genotyped using SNaPshot. The genotype and allele frequencies of the SNPs between myopias and controls were compared by chi‐squared test. Results: Genotype and allele frequencies of the four SNPs showed significant differences between the myopia and control groups (rs2218817: genotype p = 0.009, OR = 1.18; rs10034228: genotype p = 0.009, OR = 1.18; rs1585471: genotype p = 0.007, OR = 1.19 and rs6837348: genotype p = 0.012, OR = 1.18). Conclusions: Our results support the association between the four SNPs and myopia, suggesting a myopia predisposing locus at 4q25 that deserves further study.