常见的 4q25 染色体变异与中国成年人近视有关。

Common variants in chromosome 4q25 are associated with myopia in Chinese adults.

机构信息

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

出版信息

Ophthalmic Physiol Opt. 2012 Jan;32(1):68-73. doi: 10.1111/j.1475-1313.2011.00885.x.

DOI:10.1111/j.1475-1313.2011.00885.x

PMID:22150588

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.

摘要

目的

一项针对高度近视的全基因组关联研究（GWAS）发现，4q25 上的五个单核苷酸多态性（SNP）与高度近视有关。原始研究表明需要进行复制研究来验证这些结果。本研究旨在检验这些 SNP 是否与另一组样本中的近视有关。

方法

收集了 2307 名无血缘关系的个体的基因组 DNA，包括 1052 名无近视的大学生和 1255 名近视的大学生（615 名中度近视学生和 640 名高度近视学生）。在 4q25 报告的五个 SNP 中的四个，rs2218817、rs10034228、rs1585471 和 rs6837348，使用 SNaPshot 进行基因分型。通过卡方检验比较 SNP 在近视组和对照组中的基因型和等位基因频率。

结果

四个 SNP 的基因型和等位基因频率在近视组和对照组之间存在显著差异（rs2218817：基因型 p = 0.009，OR = 1.18；rs10034228：基因型 p = 0.009，OR = 1.18；rs1585471：基因型 p = 0.007，OR = 1.19；rs6837348：基因型 p = 0.012，OR = 1.18）。