Article
The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group.
Clinical genetics - 1 Jan 1998
Kastelein J J, Groenemeyer B E, Hallman D M, Henderson H, Reymer P W, Gagné S E, Jansen H, Seidell J C, Kromhout D, Jukema J W, Bruschke A V, Boerwinkle E, Hayden M R
Abstract excerpt
Two mutations in the lipoprotein lipase (LPL) gene, a T to G transition at position -93 of the proximal promoter region and an Asp9Asn substitution in exon 2, were examined in 762 Dutch males with angiographically-diagnosed coronary artery disease (CAD) and 296 healthy normolipidemic Dutch males. The two mutations exhibited strong linkage disequilibrium (D' = 0.975). A significantly higher proportion of cases...
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