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• W2062912605 abstract "Plasma lipoprotein(a) [Lp(a)] concentration is related to risk of cardiovascular disease. The defining protein component of Lp(a) particles, apolipoprotein(a) [apo(a)], is encoded by the <i>LPA</i> gene. Apo(a) is extremely heterogeneous in size due to a common copy number variation, leading to a variable number of kringle-IV type 2 (KIV2)-like domains. Alleles with fewer KIV2 repeats, encoding smaller apo(a) isoforms, are associated with higher plasma Lp(a) concentrations. Two principal methods to detect variation in KIV2 repeat number are electrophoresis with immunoblotting to detect apo(a) protein isoforms or pulse-field electrophoresis of unamplified genomic DNA to detect the variation of the <i>LPA</i> gene. Both methods are technically challenging, laborious, and time consuming. Here, we report a rapid method to determine the number of KIV2 repeats in <i>LPA</i> from genomic DNA using quantitative real-time polymerase chain reaction (qPCR). With qPCR, we found KIV2 repeat number was correlated with both apo(a) isoform size as determined by immunoblotting (r_s = 0.50, <i>P</i> < 1 × 10⁻⁶) and with plasma Lp(a) concentration (r_s = 0.30, <i>P</i> < 1 × 10⁻⁶). The qPCR technique permits rapid evaluation of apo(a) size from genomic DNA, and thus would provide an adjunctive genomic variable, in addition to <i>LPA</i> single nucleotide polymorphisms, for evaluating the genetic determinants of plasma Lp(a) concentration in genetic epidemiology studies of cardiovascular disease outcomes." @default.
• W2062912605 created "2016-06-24" @default.
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• W2062912605 date "2009-04-01" @default.
• W2062912605 modified "2023-10-15" @default.
• W2062912605 title "Determination of lipoprotein(a) kringle repeat number from genomic DNA: copy number variation genotyping using qPCR" @default.
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• W2062912605 doi "https://doi.org/10.1194/jlr.d800050-jlr200" @default.
• W2062912605 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2656671" @default.
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