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Drew Nannini, Kristen Goulee, Mina Torres, Yii-Der Chen, Kent Taylor, James Gauderman, Jerome I Rotter, Rohit Varma, Xiaoyi (Raymond) Gao; A genome-wide association study of central corneal thickness in Latinos. Invest. Ophthalmol. Vis. Sci. 2016;57(12):4830.
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Central corneal thickness (CCT) has been identified as an important risk factor for keratoconus, brittle cornea syndrome, and primary open angle glaucoma. Previous genome-wide association studies (GWAS) of CCT were conducted mostly in European and Asian populations. We hypothesize that GWAS in minority populations may provide novel information for CCT genetics. As such, we carried out a larger sample size GWAS of CCT in Latinos.
We conducted a population-based GWAS for CCT using 3741 Latinos recruited in the Los Angeles Latino Eye Study (LALES). Study participants were genotyped using the Illumina OmniExpress BeadChip (~730K markers). All study participants were 40 years of age or older. We assessed the association between individual single nucleotide polymorphisms and CCT using linear regression in PLINK, adjusted for age, gender, and principal components of genetic ancestry. Additionally, we performed functional enrichment analyses using IPA.
Compared to our previous report on CCT in Latinos using a smaller dataset (IOVS 2013 54:2435-43), we observed more significant results for rs3118515 (P = 6.16e-11) and rs3118520 (P = 6.64e-10) within RXRA-COL5A1 on chromosome 9, and rs9938149 (P = 8.75e-08) within ZNF469 on chromosome 16. We also observed candidate novel loci with biological and gene expression support when we used a less stringent significance threshold. Our functional analysis also indicated candidate novel pathways for CCT.
Our results signpost candidate novel loci for CCT. We are expanding our genotyping effort to the entire LALES cohort through the Mexican American Glaucoma Genetic Study (MAGGS) project. As our genotyping advances, we will have more power to detect additional association signals.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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