Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
Abstract Variants associated with blood lipid levels may be population-specific. To identify low-frequency variants associated with this phenotype, population-specific reference panels may be used. Here we impute nine large Dutch biobanks (~35,000 samples) with the population-specific reference panel created by the Genome of the Netherlands Project and perform association testing with blood lipid levels. We report the discovery of five novel associations at four loci ( P value <6.61 × 10 −4 ), including a rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), which is p... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2015 |
Reihe/Periodikum: | Nature Communications ; volume 6, issue 1 ; ISSN 2041-1723 |
Verlag/Hrsg.: |
Springer Science and Business Media LLC
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Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-29220261 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://dx.doi.org/10.1038/ncomms7065 |
Abstract Variants associated with blood lipid levels may be population-specific. To identify low-frequency variants associated with this phenotype, population-specific reference panels may be used. Here we impute nine large Dutch biobanks (~35,000 samples) with the population-specific reference panel created by the Genome of the Netherlands Project and perform association testing with blood lipid levels. We report the discovery of five novel associations at four loci ( P value <6.61 × 10 −4 ), including a rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), which is predicted to be deleterious. The frequency of this ABCA6 variant is 3.65-fold increased in the Dutch and its effect ( β LDL-C =0.135, β TC =0.140) is estimated to be very similar to those observed for single variants in well-known lipid genes, such as LDLR .