作者
Hélène Choquet, Ronald B Melles, Jie Yin, Thomas J Hoffmann, Khanh K Thai, Mark N Kvale, Yambazi Banda, Alison J Hardcastle, Stephen J Tuft, M Maria Glymour, Catherine Schaefer, Neil Risch, K Saidas Nair, Pirro G Hysi, Eric Jorgenson
发表日期
2020/6/11
期刊
Communications Biology
卷号
3
期号
1
页码范围
301
出版商
Nature Publishing Group UK
简介
Central corneal thickness (CCT) is one of the most heritable human traits, with broad-sense heritability estimates ranging between 0.68 to 0.95. Despite the high heritability and numerous previous association studies, only 8.5% of CCT variance is currently explained. Here, we report the results of a multiethnic meta-analysis of available genome-wide association studies in which we find association between CCT and 98 genomic loci, of which 41 are novel. Among these loci, 20 were significantly associated with keratoconus, and one (RAPSN rs3740685) was significantly associated with glaucoma after Bonferroni correction. Two-sample Mendelian randomization analysis suggests that thinner CCT does not causally increase the risk of primary open-angle glaucoma. This large CCT study explains up to 14.2% of CCT variance and increases substantially our understanding of the etiology of CCT variation. This may …
引用总数
202020212022202320241810125