Molecular population genetics of PCSK9: a signature of recent positive selection.

ABSTRACT:

Objective

Proprotein convertase subtilisin-like kexin type 9 (PCSK9) is a newly discovered serine protease that plays a key role in regulating plasma low density lipoprotein (LDL) cholesterol levels. Both rare mutations and common variants in the coding regions of PCSK9 affect LDL cholesterol levels and coronary heart disease risk, as well as response to lipid-lowering therapy.

Methods

The authors characterized the patterns of variation at the PCSK9 locus in African-Americans and European-Americans using resequenced data from the SeattleSNPs database (pga.gs.washington.edu). The authors performed a test of population differentiation and the long-range haplotype test to detect signatures of recent position selection on PCSK9.

Results

A significantly high FST (a measure

SUBMITTER: Ding K 

PROVIDER: S-EPMC2842919 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature