Article
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.
Journal of lipid research - 1 Aug 2014
Singaraja Roshni R, Tietjen Ian, Hovingh G Kees, Franchini Patrick L, Radomski Chris, Wong Kenny, vanHeek Margaret, Stylianou Ioannis M, Lin Linus, Wang Liangsu, Mitnaul Lyndon, Hubbard Brian, Winther Michael, Mattice Maryanne, Legendre Annick, Sherrington Robin, Kastelein John J, Akinsanya Karen, Plump Andrew, Hayden Michael R
Abstract excerpt
While genetic determinants strongly influence HDL cholesterol (HDLc) levels, most genetic causes underlying variation in HDLc remain unknown. We aimed to identify novel rare mutations with large effects in candidate genes contributing to extreme HDLc in humans, utilizing family-based Mendelian genetics. We performed next-generation sequencing of 456 candidate HDLc-regulating genes in 200 unrelated probands with...
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