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Jian-Huan Chen, Haoyu Chen, Shulan Huang, Jianwei Lin, Yuqian Zheng, Mingzhi Zhang, Chi-Pui Pang; Phenotype-genotype Correlations Between Myopia-associated Polymorphisms And Eye Biometric Parameters In Southern Chinese. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1556.
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To investigate the association of ocular biometric parameters with myopia-associated single nucleotide polymorphisms (SNPs) in the gap junction protein delta 2 (GJD2), insulin-like growth factor-1 (IGF1) and hepatocyte growth factor (HGF) genes in Southern Chinese.
In 814 unrelated Han Chinese individuals aged above 50 years including 362 inland residents and 452 island dwellers, a comprehensive ophthalmic examination was performed to collect endophenotypes of refractive parameters and axial ocular dimensions. Three SNPs were genotyped with Taqman assays: GJD2 rs634990, IGF1 rs6214 and HGF rs3735520. The relationship between genotypes and ocular biometric parameters was analyzed in both cohorts with linear regression using additive models controlled for gender and age. The results of two cohorts were pooled with meta-analysis.
Meta-analysis of both inland and island cohorts showed that IGF1 rs6214 was associated with lens thickness (adjusted P = 0.017), but not with other pparameters. HGF rs3735520 was weakly associated vitreous chamber depth (adjusted P = 0.05). GJD2 rs634990 was not associated with any biometric parameters in the current study (adjusted P > 0.05).
Our results showed differential association of selected myopia-associated geneswith eye biometric parameters in our Chinese cohorts, which may underlay substantial but diversified effects of these genes on the ocular development of eye structure and etiology of myopia.
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