Endophenotyping reveals differential phenotype-genotype correlations between myopia-associated polymorphisms and eye biometric parameters
Endophenotyping reveals differential phenotype-genotype correlations between myopia-associated polymorphisms and eye biometric parameters
复制标题
内表型分析揭示了近视相关多态性与眼睛生物特征参数之间的差异表型-基因型相关性
作者：
Jian Huan Chen;H. Chen;S. Huang;J. Lin;Y. Zheng;M. Xie;Wenjie Lin;Chi Pui Pang;Mingzhi Zhang
目的探讨缝隙连接蛋白-2(GJD2)、胰岛素样生长因子-1(IGF1)和肝细胞生长因子(HGF)基因单核苷酸多态性(SNPs)与近视相关眼部生物计量学参数的关系。方法对814名50岁以上无血缘关系的汉族人进行全面眼科检查，其中内陆居民362人，海岛居民432人。对GJD2 rs634990、IGF1 rs6214和HGF rs3735520三个SNPs进行了基因分型。通过对性别和年龄进行控制的线性回归，在个体队列中分析了遗传与眼生物特征参数的相关性。Meta分析揭示了两个队列的共同联系。结果Meta分析显示GJD2rs634990单独与任何生物统计学参数无关(调整p>；0.645)。IGF1rs6214的T等位基因与晶状体厚度相关(β±SE=0.055±0.022，校正后p=0.034)。HGFrs3735520的A等位基因与玻璃体深度增加相关(β±SE=0.143±0.060，校正后p=0.050)。HGFrs3735520和GJD2rs634990之间存在显著的交互作用，与眼轴长度和玻璃体深度相关(调整后的p分别为0.003和0.033)，可能还与球面误差有关(调整后的p=0.056)。结论在中国人群中，近视相关基因与眼生物测量参数之间存在着不同程度的相关性，提示这些基因在近视眼结构和病因的发生发展中可能起着重要而多样的作用。
Purpose To investigate the association with ocular biometric parameters in myopia-associated single nucleotide polymorphisms (SNPs) of the gap junction protein delta 2 (GJD2), insulin-like growth factor-1 (IGF1) and hepatocyte growth factor (HGF) genes in two geographically different Chinese cohorts. Methods In 814 unrelated Han Chinese individuals aged above 50 years including 362 inland residents and 432 island dwellers, comprehensive ophthalmic examinations were performed. Three SNPs, including GJD2 rs634990, IGF1 rs6214, and HGF rs3735520, were genotyped. Genetic association with ocular biometric parameters was analyzed in individual cohorts, using linear regression controlled for sex and age. Common associations shared by the two cohorts were revealed by meta-analysis. Results Meta-analysis showed that GJD2 rs634990 alone was not associated with any biometric parameters (adjusted p>0.645). The T allele of IGF1 rs6214 was specifically associated with thicker lens (β±SE=0.055±0.022, adjusted p=0.034). The A allele of HGF rs3735520 was associated with longer vitreous chamber depth (β±SE=0.143±0.060, adjusted p=0.050). Significant interaction between HGF rs3735520 and GJD2 rs634990 was found in association with axial length and vitreous chamber depth (adjusted p=0.003 and 0.033, respectively), and possibly with spherical error (adjusted p=0.056). Conclusions Our endophenotyping analysis showed differential association between selected myopia-associated genes and ocular biometric parameters in our Chinese cohorts, which may underline substantial but diversified effects of these genes and their interaction on the development of eye structure and etiology of myopia.
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影响因子：
2.2
作者：
Mona S Awadalla;S. Thapa;K. Burdon;A. Hewitt;J. Craig
通讯作者：
Mona S Awadalla;S. Thapa;K. Burdon;A. Hewitt;J. Craig
影响因子：
4.4
作者：
Dirani, Mohamed;Shekar, Sri N.;Baird, Paul N.
通讯作者：
Baird, Paul N.
影响因子：
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作者：
T. W. White;R. Bruzzone
通讯作者：
T. W. White;R. Bruzzone
影响因子：
3.7
作者：
Hornbeak DM;Young TL
通讯作者：
Young TL
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