GeneSet Information

Tier I GS267795 • GWAS Catalog Data for pathological myopia in 2,789 Chinese ancestry individuals, 2,155 Malay ancestry individuals

DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Myopia (pathological). The EFO term pathological myopia was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: pathological myopia

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Q Fan, VA Barathi, CY Cheng, X Zhou, A Meguro, I Nakata, CC Khor, LK Goh, YJ Li, W Lim, CE Ho, F Hawthorne, Y Zheng, D Chua, H Inoko, K Yamashiro, K Ohno-Matsui, K Matsuo, F Matsuda, E Vithana, M Seielstad, N Mizuki, RW Beuerman, ES Tai, N Yoshimura, T Aung, TL Young, TY Wong, YY Teo, SM Saw

TITLE:

Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.

JOURNAL:

PLoS genetics None 2012, Vol 8, pp. e1002753

ABSTRACT:

As one of the leading causes of visual impairment and blindness, myopia poses a significant public health burden in Asia. The primary determinant of myopia is an elongated ocular axial length (AL). Here we report a meta-analysis of three genome-wide association studies on AL conducted in 1,860 Chinese adults, 929 Chinese children, and 2,155 Malay adults. We identified a genetic locus on chromosome 1q41 harboring the zinc-finger 11B pseudogene ZC3H11B showing genome-wide significant association with AL variation (rs4373767, β = -0.16 mm per minor allele, P(meta) =2.69 × 10(-10)). The minor C allele of rs4373767 was also observed to significantly associate with decreased susceptibility to high myopia (per-allele odds ratio (OR) =0.75, 95% CI: 0.68-0.84, P(meta) =4.38 × 10(-7)) in 1,118 highly myopic cases and 5,433 controls. ZC3H11B and two neighboring genes SLC30A10 and LYPLAL1 were expressed in the human neural retina, retinal pigment epithelium, and sclera. In an experimental myopia mouse model, we observed significant alterations to gene and protein expression in the retina and sclera of the unilateral induced myopic eyes for the murine genes ZC3H11A, SLC30A10, and LYPLAL1. This supports the likely role of genetic variants at chromosome 1q41 in influencing AL variation and high myopia. PUBMED: 22685421
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pathological myopia (EFO:0004207)

Gene List • 6 Genes

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