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

Title
New loci and coding variants confer risk for age-related macular degeneration in East Asians
Author(s)
장우혁사공민Ching-Yu Cheng[Ching-Yu Cheng]Kenji Yamashiro[Kenji Yamashiro]Li Jia Chen[Li Jia Chen]Jeeyun Ahn[Jeeyun Ahn]Lulin Huang[Lulin Huang]Lvzhen Huang[Lvzhen Huang]Peter D. Cackett[Peter D. Cackett]Ian Y. Yeo4[Ian Y. Yeo4]Tien Yin Wong[Tien Yin Wong]
Keywords
GENOME-WIDE ASSOCIATION; HIGH-DENSITY-LIPOPROTEIN; ESTER TRANSFER PROTEIN; COMMON VARIANTS; SUSCEPTIBILITY LOCUS; DISEASE; IDENTIFICATION; CHOLESTEROL; MUTATIONS; GENE
Issue Date
201501
Publisher
NATURE PUBLISHING GROUP
Citation
NATURE COMMUNICATIONS, v.6
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.
URI
http://hdl.handle.net/YU.REPOSITORY/33743http://dx.doi.org/10.1038/ncomms7063
ISSN
2041-1723
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의과대학 > 안과학교실 > Articles
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