A genome-wide association study of corneal astigmatism: The CREAM Consortium
作者： Rupal L Shah , Qing Li , Wanting Zhao , Milly S Tedja , J Willem L Tideman
DOI: 10.7892/BORIS.114871
关键词:
摘要: __Purpose:__ To identify genes and genetic markers associated with corneal astigmatism. __Methods:__ A meta-analysis of genome-wide association studies (GWASs) astigmatism undertaken for 14 European ancestry (n=22,250) 8 Asian (n=9,120) cohorts was performed by the Consortium Refractive Error Myopia. Cases were defined as having >0.75 diopters Subsequent gene-based gene-set analyses meta-analyzed results using VEGAS2 MAGMA software. Additionally, estimates single nucleotide polymorphism (SNP)-based heritability refractive spherical equivalent calculated Europeans LD score regression. __Results:__ The all identified a significant locus near platelet-derived growth factor receptor alpha (PDGFRA) gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08–1.16), p=5.55×10−9. No other loci in combined analysis or European/Asian ancestry-specific analyses. Gene-based three novel candidate Europeans—claudin-7 (CLDN7), acid phosphatase 2, lysosomal (ACP2), TNF alpha-induced protein like 3 (TNFAIP8L3). __Conclusions:__ In addition to replicating previously PDGFRA gene, genes, CLDN7, ACP2, TNFAIP8L3, that warrant further investigation understand their role pathogenesis much lower number variants demonstrating an compared published GWAS suggest greater influence rare variants, non-additive effects, environmental factors development
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