Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus.

Investigative Ophthalmology & Visual Science
Bao Jian FanMexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium

Abstract

To identify genetic risk factors contributing to central corneal thickness (CCT) in individuals from South India, a population with a high prevalence of ocular disorders. One hundred ninety-five individuals from 15 large South Indian pedigrees were genotyped using the Omni2.5 bead array. Family-based association for CCT was conducted using the score test in MERLIN. Genome-wide association study (GWAS) identified strongest association for single nucleotide polymorphisms (SNPs) in the first intron of WNT7B and CCT (top SNP rs9330813; β = -0.57, 95% confidence interval [CI]: -0.78 to -0.36; P = 1.7 × 10-7). We further investigated rs9330813 in a Latino cohort and four independent European cohorts. A meta-analysis of these data sets demonstrated statistically significant association between rs9330813 and CCT (β = -3.94, 95% CI: -5.23 to -2.66; P = 1.7 × 10-9). WNT7B SNPs located in the same genomic region that includes rs9330813 have previously been associated with CCT in Latinos but with other ocular quantitative traits related to myopia (corneal curvature and axial length) in a Japanese population (rs10453441 and rs200329677). To evaluate the specificity of the observed WNT7B association with CCT in the South Indian families, we ...Continue Reading

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Citations

Jan 11, 2019·Translational Vision Science & Technology·Rohit ShettyDebashish Das
Aug 8, 2020·Investigative Ophthalmology & Visual Science·Shi Yao LuLi Jia Chen
Oct 25, 2020·International Journal of Molecular Sciences·Bi Ning ZhangWai Kit Chu

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Methods Mentioned

BETA
Genotyping

Software Mentioned

PLINK
PedSTR
Review Manager
R package “ metafor
RevMan
ENCODE
GCTA
Genetic Power Calculator
KING
R package ggplot2

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