Li Fang, Ye Zimeng, Zhai Yaru, Gong Bo, Jiang Lingxi, Wu Haiyan, Lin Ying, Wan Ling, Yang Zhenglin, Shi Yi, Wu Zhengzheng
a School of Medicine, University of Electronic Science and Technology of China , Chengdu , Sichuan , China.
b Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.
Ophthalmic Genet. 2017 Jul-Aug;38(4):330-334. doi: 10.1080/13816810.2016.1227455. Epub 2017 Jan 13.
High myopia (HM) is a common cause of visual impairment worldwide. Previous genome-wide association studies have reported that seven single nucleotide polymorphisms (SNPs), including rs1254319, rs3138144, rs12205363, rs17648524, rs7829127, rs1656404, and rs7084402, are associated with HM in Caucasians. The aim of this study was to investigate the association of these SNPs in Han Chinese.
SNPs were genotyped by SNaPshot method in a Chinese cohort composed of 830 HM patients and 1140 controls.
Rs17648524 (C/G) and rs7084402 (A/G) were significantly associated with HM (p = 3.0 × 10, OR = 0.43; p = 3.7 × 10, OR = 1.25, respectively). The association of rs17648524 was also observed under the heterozygous model (CG vs. GG, p = 7.0 × 10, OR = 0.43) and the dominant model (CC + CG vs. GG, p = 4.0 × 10, OR = 0.42). The association of rs7084402 was found under the homozygous model (GG vs. AA, p = 4.0 × 10, OR = 1.56) and the dominant model (GG+ AG vs. AA, p = 3.8 × 10, OR = 1.41). Another SNP, rs7829127 (A/G), was found to be significantly associated with HM under the heterozygous model (AG vs. AA, p = 4.6 × 10, OR = 0.67). Furthermore, the associations of rs17648524 and rs7084402 with HM were gender-specific, with significance observed only in females but not in males. As for the other four SNPs, no associations were detected under these genetic models.
Our findings suggested rs17648524 (intronic RBFOX1 gene) and rs7084402 (7.5kb 5' of the BICC1 gene) showed gender-specific associations with high myopia in the Han Chinese.
高度近视（HM）是全球视力损害的常见原因。以往全基因组关联研究报告称，包括rs1254319、rs3138144、rs12205363、rs17648524、rs7829127、rs1656404和rs7084402在内的7个单核苷酸多态性（SNP）与白种人的高度近视相关。本研究旨在调查这些SNP在中国汉族人群中的关联性。
采用SNaPshot方法对一个由830例高度近视患者和1140例对照组成的中国队列进行SNP基因分型。
rs17648524（C/G）和rs7084402（A/G）与高度近视显著相关（p = 3.0×10，OR = 0.43；p = 3.7×10，OR = 1.25）。在杂合子模型（CG vs. GG，p = 7.0×10，OR = 0.43）和显性模型（CC + CG vs. GG，p = 4.0×10，OR = 0.42）下也观察到rs17648524的关联性。在纯合子模型（GG vs. AA，p = 4.0×10，OR = 1.56）和显性模型（GG + AG vs. AA，p = 3.8×10，OR = 1.41）下发现rs7084402的关联性。另一个SNP，rs7829127（A/G），在杂合子模型（AG vs. AA，p = 4.6×10，OR = 0.67）下与高度近视显著相关。此外，rs17648524和rs7084402与高度近视的关联性存在性别特异性，仅在女性中观察到显著差异，在男性中未观察到。至于其他四个SNP，在这些遗传模型下未检测到关联性。
我们的研究结果表明，rs17648524（RBFOX1基因内含子）和rs7084402（BICC1基因5'端7.5kb处）在中国汉族人群中与高度近视存在性别特异性关联。
