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ABSTRACT: Background
Lipoprotein(a) (Lp(a)) concentrations are a major independent risk factor for coronary artery disease (CAD) and are mainly determined by variation in LPA. Up to 70% of the LPA coding sequence is located in the hypervariable kringle IV type 2 (KIV-2) region. It is hardly accessible by conventional technologies, but may contain functional variants.Objectives
This study sought to investigate the new, very frequent splicing variant KIV-2 4733G>A on Lp(a) and CAD.Methods
We genotyped 4733G>A in the GCKD (German Chronic Kidney Disease) study (n = 4,673) by allele-specific polymerase chain reaction, performed minigene assays, identified proxy single nucleotide polymorphisms and used them to characterize its effect on CAD by survival analysis in UK Biobank (n = 4
SUBMITTER: Schachtl-Riess JF
PROVIDER: S-EPMC7613585 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature