Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations.
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ABSTRACT:
SUBMITTER: Song K
PROVIDER: S-EPMC3449231 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
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Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations.
Song K K Nelson M R MR Aponte J J Manas E S ES Bacanu S-A SA Yuan X X Kong X X Cardon L L Mooser V E VE Whittaker J C JC Waterworth D M DM
The pharmacogenomics journal 20110524 5
Elevated plasma levels of lipoprotein-associated phospholipase A(2) (Lp-PLA2) activity have been shown to be associated with increased risk of coronary heart disease and an inhibitor of this enzyme is under development for the treatment of that condition. A Val279Phe null allele in this gene, that may influence patient eligibility for treatment, is relatively common in East Asians but has not been observed in Europeans. We investigated the existence and functional effects of low frequency allele ...[more]
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