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 Exudative age-related macular degeneration. The EFO term wet macular degeneration 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: wet macular degeneration

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

CY Cheng, K Yamashiro, LJ Chen, J Ahn, L Huang, L Huang, CM Cheung, M Miyake, PD Cackett, IY Yeo, A Laude, R Mathur, J Pang, KS Sim, AH Koh, P Chen, SY Lee, D Wong, CM Chan, BK Loh, Y Sun, S Davila, I Nakata, H Nakanishi, Y Akagi-Kurashige, N Gotoh, A Tsujikawa, F Matsuda, K Mori, S Yoneya, Y Sakurada, H Iijima, T Iida, S Honda, TY Lai, PO Tam, H Chen, S Tang, X Ding, F Wen, F Lu, X Zhang, Y Shi, P Zhao, B Zhao, J Sang, B Gong, R Dorajoo, JM Yuan, WP Koh, RM van Dam, Y Friedlander, Y Lin, ML Hibberd, JN Foo, N Wang, CH Wong, GS Tan, SJ Park, M Bhargava, L Gopal, T Naing, J Liao, PG Ong, P Mitchell, P Zhou, X Xie, J Liang, J Mei, X Jin, SM Saw, M Ozaki, T Mizoguchi, Y Kurimoto, SJ Woo, H Chung, HG Yu, JY Shin, DH Park, IT Kim, W Chang, M Sagong, SJ Lee, HW Kim, JE Lee, Y Li, J Liu, YY Teo, CK Heng, TH Lim, SK Yang, K Song, EN Vithana, T Aung, JX Bei, YX Zeng, ES Tai, XX Li, Z Yang, KH Park, CP Pang, N Yoshimura, TY Wong, CC Khor

TITLE:

New loci and coding variants confer risk for age-related macular degeneration in East Asians.

JOURNAL:

Nature communications Jan 2015, Vol 6, pp. 6063

ABSTRACT:

Age-related macular degeneration (AMD) is a major cause of blindness, but presents differently in Europeans and Asians. Here, we perform a genome-wide and exome-wide association study on 2,119 patients with exudative AMD and 5,691 controls, with independent replication in 4,226 patients and 10,289 controls, all of East Asian descent, as part of The Genetics of AMD in Asians (GAMA) Consortium. We find a strong association between CETP Asp442Gly (rs2303790), an East Asian-specific mutation, and increased risk of AMD (odds ratio (OR)=1.70, P=5.60 × 10(-22)). The AMD risk allele (442Gly), known to protect from coronary heart disease, increases HDL cholesterol levels by 0.17 mmol l(-1) (P=5.82 × 10(-21)) in East Asians (n=7,102). We also identify three novel AMD loci: C6orf223 Ala231Ala (OR=0.78, P=6.19 × 10(-18)), SLC44A4 Asp47Val (OR=1.27, P=1.08 × 10(-11)) and FGD6 Gln257Arg (OR=0.87, P=2.85 × 10(-8)). Our findings suggest that some of the genetic loci conferring AMD susceptibility in East Asians are shared with Europeans, yet AMD in East Asians may also have a distinct genetic signature. PUBMED: 25629512
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