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 Refractive astigmatism. The EFO term Astigmatism 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: Astigmatism

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2020-05-06

SPECIES:

AUTHORS:

Q Li, R Wojciechowski, CL Simpson, PG Hysi, VJ Verhoeven, MK Ikram, R Höhn, V Vitart, AW Hewitt, K Oexle, KM Mäkelä, S MacGregor, M Pirastu, Q Fan, CY Cheng, B St Pourcain, G McMahon, JP Kemp, K Northstone, JS Rahi, PM Cumberland, NG Martin, PG Sanfilippo, Y Lu, YX Wang, C Hayward, O Polašek, H Campbell, G Bencic, AF Wright, J Wedenoja, T Zeller, A Schillert, A Mirshahi, K Lackner, SP Yip, MK Yap, JS Ried, C Gieger, F Murgia, JF Wilson, B Fleck, S Yazar, JR Vingerling, A Hofman, A Uitterlinden, F Rivadeneira, N Amin, L Karssen, BA Oostra, X Zhou, YY Teo, ES Tai, E Vithana, V Barathi, Y Zheng, RG Siantar, K Neelam, Y Shin, J Lam, E Yonova-Doing, C Venturini, SM Hosseini, HS Wong, T Lehtimäki, M Kähönen, O Raitakari, NJ Timpson, DM Evans, CC Khor, T Aung, TL Young, P Mitchell, B Klein, CM van Duijn, T Meitinger, JB Jonas, PN Baird, DA Mackey, TY Wong, SM Saw, O Pärssinen, D Stambolian, CJ Hammond, CC Klaver, C Williams, AD Paterson, JE Bailey-Wilson, JA Guggenheim

TITLE:

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

JOURNAL:

Human genetics Feb 2015, Vol 134, pp. 131-46

ABSTRACT:

To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E-8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E-07), TOX (rs7823467, P = 3.47E-07) and LINC00340 (rs12212674, P = 1.49E-06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = -0.59, P = 2.10E-04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors. PUBMED: 25367360
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