Ontology highlight
ABSTRACT:
SUBMITTER: Singaraja RR
PROVIDER: S-EPMC4109763 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Singaraja Roshni R RR Tietjen Ian I Hovingh G Kees GK Franchini Patrick L PL Radomski Chris C Wong Kenny K vanHeek Margaret M Stylianou Ioannis M IM Lin Linus L Wang Liangsu L Mitnaul Lyndon L Hubbard Brian B Winther Michael M Mattice Maryanne M Legendre Annick A Sherrington Robin R Kastelein John J JJ Akinsanya Karen K Plump Andrew A Hayden Michael R MR
Journal of lipid research 20140602 8
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 extremely low (≤10th percentile) or high (≥90th percentile) HDLc. Probands were exclu ...[more]