Association study of IGF1 polymorphisms with susceptibility to high myopia in a Japanese population.
Association study of IGF1 polymorphisms with susceptibility to high myopia in a Japanese population.
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DOI：
10.2147/opth.s52726
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Mizuki N
中科院分区：
文献类型：
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作者：
Yoshida M;Meguro A;Yoshino A;Nomura N;Okada E;Mizuki N
胰岛素样生长因子 1 (IGF1) 基因的多态性先前被认为与白种人和中国人的高度或极度近视有关。在本研究中，我们调查了 IGF1 多态性是否与日本人群的高度近视相关。总共招募了 446 名日本高度近视患者（≤−9.00 屈光度）和 481 名日本健康对照者（+1.50 屈光度至−1.50 屈光度）。我们对 IGF1 中的七个标记单核苷酸多态性 (SNP) 进行了基因分型，并评估了病例和对照中的等位基因和单倍型多样性。病例与对照组IGF1 SNP等位基因频率及基因型差异均无统计学意义（P>0.05）。然而，rs5742629 的 A 等位基因和 rs12423791 的 G 等位基因与高度近视风险中度增加相关（优势比 [OR] = 1.20 和 OR = 1.21，分别），具有临界统计显着性（分别为 P = 0.0502，校正 P (Pc) = 0.21 和 P = 0.064，Pc = 0.29）。由rs5742629的A等位基因和rs12423791的G等位基因组成的单倍型与高度近视的风险呈边际相关（P=0.041；OR=1.21）；校正后这种关联并不显着（Pc=0.19）。我们发现 IGF1 SNP 与日本人群的高度近视没有显着相关性。我们的结果与之前的一项研究形成鲜明对比，在该研究中，极度近视病例的 rs5742629 的 G 等位基因和 rs12423791 的 C 等位基因的频率显着高于对照组。因此，IGF1 SNPs可能并不是所有人群高度近视易感性的重要因素。需要进一步的遗传学研究来阐明 IGF1 区域对高度近视发展的可能贡献。
Polymorphisms in the insulin-like growth factor 1 (IGF1) gene were previously associated with high or extreme myopia in Caucasian and Chinese populations. In the present study, we investigated whether IGF1 polymorphisms are associated with high myopia in a Japanese population. A total of 446 Japanese patients with high myopia (≤−9.00 diopters) and 481 Japanese healthy controls (+1.50 diopters to −1.50 diopters) were recruited. We genotyped seven tagging single-nucleotide polymorphisms (SNPs) in IGF1 and assessed allelic and haplotypic diversity in cases and controls. There were no statistically significant differences in the allele frequencies of IGF1 SNPs and genotypes between cases and controls (P>0.05). However, the A allele of rs5742629 and the G allele of rs12423791 were associated with a moderately increased risk of high myopia (odds ratio [OR] =1.20 and OR =1.21, respectively) with borderline statistical significance (P=0.0502, corrected P (Pc) =0.21 and P=0.064, Pc=0.29, respectively). The haplotype consisting of the A allele of rs5742629 and the G allele of rs12423791 was marginally associated with the risk of high myopia (P=0.041; OR =1.21); this association was not significant after correction (Pc=0.19). We found that the IGF1 SNPs are not significantly associated with high myopia in our Japanese population. Our results are in contrast to a previous study in which extreme myopia cases had significantly higher frequencies of the G allele of rs5742629 and the C allele of rs12423791 than controls. Therefore, the IGF1 SNPs may not be important factors for susceptibility to high myopia in all populations. Further genetic studies are needed to elucidate the possible contributions of the IGF1 region to the development of high myopia.