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Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos

Gao, X; Nannini, DR; Corrao, K; Torres, M; Chen, YDI; Fan, BJ; Wiggs, JL; ... Zeller, T; + view all (2016) Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos. Human Molecular Genetics , 25 (22) pp. 5035-5045. 10.1093/hmg/ddw319. Green open access

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Abstract

The cornea is the outermost layer of the eye and is a vital component of focusing incoming light on the retina. Central corneal thickness (CCT) is now recognized to have a significant role in ocular health and is a risk factor for various ocular diseases, such as keratoconus and primary open angle glaucoma. Most previous genetic studies utilized European and Asian subjects to identify genetic loci associated with CCT. Minority populations, such as Latinos, may aid in identifying additional loci and improve our understanding of the genetic architecture of CCT. In this study, we conducted a genome-wide association study (GWAS) in Latinos, a traditionally understudied population in genetic research, to further identify loci contributing to CCT. Study participants were genotyped using either the Illumina OmniExpress BeadChip (~730K markers) or the Illumina Hispanic/SOL BeadChip (~2.5 million markers). All study participants were 40 years of age and older. We assessed the association between individual single nucleotide polymorphisms (SNPs) and CCT using linear regression, adjusting for age, gender and principal components of genetic ancestry. To expand genomic coverage and to interrogate additional SNPs, we imputed SNPs from the 1000 Genomes Project reference panels. We identified a novel SNP, rs10453441 (P=6.01E-09), in an intron of WNT7B that is associated with CCT. Furthermore, WNT7B is expressed in the human cornea. We also replicated 11 previously reported loci, including IBTK, RXRA-COL5A1, COL5A1, FOXO1, LRRK1 and ZNF469 (P < 1.25E-3). These findings provide further insight into the genetic architecture of CCT and illustrate that the use of minority groups in GWAS will help identify additional loci.

Type: Article
Title: Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/hmg/ddw319
Publisher version: https://doi.org/10.1093/hmg/ddw319
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Eye diseases, genome open-angle glaucoma, hispanics or latinos, introns, keratoconus, minority groups, single nucleotide polymorphism, cornea eye genetics, retina, gender genetic research, asian, linear regression, genome-wide association study, imputation, forkhead box protein o1
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
URI: https://discovery.ucl.ac.uk/id/eprint/10024533
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