Please use this identifier to cite or link to this item: https://doi.org/10.1038/ncomms7063
Title: New loci and coding variants confer risk for age-related macular degeneration in East Asians
Authors: Cheng C.-Y. 
Yamashiro K.
Jia Chen L.
Keywords: cholesterol ester transfer protein
high density lipoprotein cholesterol
CETP protein, human
cholesterol ester transfer protein
high density lipoprotein cholesterol
age structure
blindness
cardiovascular disease
genetics
genome
health risk
mutation
age related macular degeneration
allele
Article
cholesterol blood level
controlled study
disease predisposition
East Asian
gene locus
gene mutation
gene replication
genetic association
genetic identification
genetic risk
genetic variability
genotype
human
ischemic heart disease
major clinical study
mutational load
phenotype
Asian continental ancestry group
blood
case control study
cohort analysis
coronary artery disease
exome
gene locus
genetic predisposition
genetics
genome-wide association study
macular degeneration
mutation
reproducibility
risk factor
single nucleotide polymorphism
Europe
Far East
Asian Continental Ancestry Group
Case-Control Studies
Cholesterol Ester Transfer Proteins
Cholesterol, HDL
Cohort Studies
Coronary Disease
Exome
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Macular Degeneration
Mutation
Polymorphism, Single Nucleotide
Reproducibility of Results
Risk Factors
Issue Date: 2015
Publisher: Nature Publishing Group
Citation: Cheng C.-Y., Yamashiro K., Jia Chen L. (2015). New loci and coding variants confer risk for age-related macular degeneration in East Asians. Nature Communications 6 : 6063. ScholarBank@NUS Repository. https://doi.org/10.1038/ncomms7063
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 0.17mmoll-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. © 2015 Macmillan Publishers Limited. All rights reserved.
Source Title: Nature Communications
URI: https://scholarbank.nus.edu.sg/handle/10635/175516
ISSN: 20411723
DOI: 10.1038/ncomms7063
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