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Autor(en) / Beteiligte

Titel

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

Ist Teil von

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2015

Link zum Volltext

Quelle

Electronic Journals Library

Beschreibungen/Notizen

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.

Sprache: Englisch
Identifikatoren: ISSN: 2041-1723
eISSN: 2041-1723
DOI: 10.1038/ncomms7063
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4317498

Format: –
Schlagworte: Asian Continental Ancestry Group - genetics, Case-Control Studies, Cholesterol Ester Transfer Proteins - genetics, Cholesterol, HDL - blood, Cohort Studies, Coronary Disease - blood, Coronary Disease - genetics, Exome - genetics, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Macular Degeneration - blood, Macular Degeneration - genetics, Mutation - genetics, Polymorphism, Single Nucleotide - genetics, Reproducibility of Results, Risk Factors

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