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Genome-wide association studies of refractive error and myopia, lessons learned, and implications for the future.

ABSTRACT: The investigation of the genetic basis of refractive error and myopia entered a new stage with the introduction of genome-wide association studies (GWAS). Multiple GWAS on many ethnic groups have been published over the years, providing new insight into the genetic architecture and pathophysiology of refractive error. This is a review of the GWAS published to date, the main lessons learned, and future possible directions of genetic studies of myopia and refractive error.

SUBMITTER: Hysi PG

PROVIDER: S-EPMC4039381 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature

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Genome-wide association studies of refractive error and myopia, lessons learned, and implications for the future.

Hysi Pirro G PG Wojciechowski Robert R Rahi Jugnoo S JS Hammond Chris J CJ

Investigative ophthalmology & visual science 20140529 5

The investigation of the genetic basis of refractive error and myopia entered a new stage with the introduction of genome-wide association studies (GWAS). Multiple GWAS on many ethnic groups have been published over the years, providing new insight into the genetic architecture and pathophysiology of refractive error. This is a review of the GWAS published to date, the main lessons learned, and future possible directions of genetic studies of myopia and refractive error. ...[more]

PMID: 24876304

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Project description:Myopia is the most common ocular disease worldwide. We investigated the association of high myopia with the common single nucleotide polymorphisms (SNPs) of five candidate genes - early growth response 1 (EGR1), v-fos FBJ murine osteosarcoma viral oncogene homolog (FOS), jun oncogene (JUN), vasoactive intestinal peptide (VIP), and vasoactive intestinal peptide receptor 2 (VIPR2). We recruited 1200 unrelated Chinese subjects with 600 cases (spherical equivalent ?-8.00 diopters) and 600 controls (spherical equivalent within ±1.00 diopter). A discovery sample set was formed from 300 cases and 300 controls, and a replication sample set from the remaining samples. Tag SNPs were genotyped for the discovery sample set, and the most significant haplotypes and their constituent SNPs were followed up with the replication sample set. The allele and haplotype frequencies in cases and controls were compared by logistic regression adjusted for sex and age to give P a values, and multiple comparisons were corrected by permutation test to give P aemp values. Odd ratios (OR) were calculated accordingly. In the discovery phase, EGR1, JUN and VIP did not show any significant association while FOS and VIPR2 demonstrated significant haplotype association with high myopia. In the replication phase, the haplotype association for VIPR2 was successfully replicated, but not FOS. In analysis combining both sample sets, the most significant association signals of VIPR2 were the single marker rs2071625 (P a?=?0.0008, P aemp?=?0.0046 and OR?=?0.75) and the 4-SNP haplotype window rs2071623-rs2071625-rs2730220-rs885863 (omnibus test, P a?=?9.10e-10 and P aemp?=?0.0001) with one protective haplotype (GGGG: P aemp?=?0.0002 and OR?=?0.52) and one high-risk haplotype (GAGA: P aemp?=?0.0027 and OR?=?4.68). This 4-SNP haplotype window was the most significant in all sample sets examined. This is the first study to suggest a role of VIPR2 in the genetic susceptibility to high myopia. EGR1, JUN, FOS and VIP are unlikely to be important in predisposing humans to high myopia.

Dataset Information

Genome-wide association studies of refractive error and myopia, lessons learned, and implications for the future.

Publications

Genome-wide association studies of refractive error and myopia, lessons learned, and implications for the future.

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