Article
A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.
Human molecular genetics - 15 Jun 2017
Bjornsson Eythor, Helgason Hannes, Halldorsson Gisli, Helgadottir Anna, Gylfason Arnaldur, Kehr Birte, Jonasdottir Adalbjorg, Jonasdottir Aslaug, Sigurdsson Asgeir, Oddsson Asmundur, Thorleifsson Gudmar, Magnusson Olafur Th, Gretarsdottir Solveig, Zink Florian, Kristjansson Ragnar P, Asgeirsdottir Margret, Swinkels Dorine W, Kiemeney Lambertus A, Eyjolfsson Gudmundur I, Sigurdardottir Olof, Masson Gisli, Olafsson Isleifur, Thorgeirsson Gudmundur, Holm Hilma, Thorsteinsdottir Unnur, Gudbjartsson Daniel F, Sulem Patrick, Stefansson Kari
Abstract excerpt
Common sequence variants at the haptoglobin gene (HP) have been associated with blood lipid levels. Through whole-genome sequencing of 8,453 Icelanders, we discovered a splice donor founder mutation in HP (NM_001126102.1:c.190 + 1G > C, minor allele frequency = 0.56%). This mutation occurs on the HP1 allele of the common copy number variant in HP and leads to a loss of function of HP1. It associates with lower...
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