| Title | Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. |
| Publication Type | Journal Article |
| Year of Publication | 2013 |
| Authors | Morrison, AC, Voorman, A, Johnson, AD, Liu, X, Yu, J, Li, A, Muzny, DM, Yu, F, Rice, K, Zhu, C, Bis, J, Heiss, G, O'Donnell, CJ, Psaty, BM, L Cupples, A, Gibbs, RA, Boerwinkle, E |
| Corporate Authors | Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium |
| Journal | Nat Genet |
| Volume | 45 |
| Issue | 8 |
| Pagination | 899-901 |
| Date Published | 2013 Aug |
| ISSN | 1546-1718 |
| Keywords | Cholesterol, HDL, Computational Biology, Databases, Genetic, Genetic Variation, Genome, Human, Genome-Wide Association Study, Genomics, Heterozygote, Humans, Open Reading Frames |
| Abstract | We describe initial steps for interrogating whole-genome sequence data to characterize the genetic architecture of a complex trait, levels of high-density lipoprotein cholesterol (HDL-C). We report whole-genome sequencing and analysis of 962 individuals from the Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) studies. From this analysis, we estimate that common variation contributes more to heritability of HDL-C levels than rare variation, and screening for mendelian variants for dyslipidemia identified individuals with extreme HDL-C levels. Whole-genome sequencing analyses highlight the value of regulatory and non-protein-coding regions of the genome in addition to protein-coding regions. |
| DOI | 10.1038/ng.2671 |
| Alternate Journal | Nat. Genet. |
| PubMed ID | 23770607 |
| PubMed Central ID | PMC4030301 |
| Grant List | AG-023629 / AG / NIA NIH HHS / United States AG-027058 / AG / NIA NIH HHS / United States AG-15928 / AG / NIA NIH HHS / United States AG-20098 / AG / NIA NIH HHS / United States HHSN268201100005C / / PHS HHS / United States HHSN268201100006C / / PHS HHS / United States HHSN268201100007C / / PHS HHS / United States HHSN268201100008C / / PHS HHS / United States HHSN268201100009C / / PHS HHS / United States HHSN268201100010C / / PHS HHS / United States HHSN268201100011C / / PHS HHS / United States HHSN268201100012C / / PHS HHS / United States HHSN268201200036C / / PHS HHS / United States HL080295 / HL / NHLBI NIH HHS / United States HL087652 / HL / NHLBI NIH HHS / United States HL105756 / HL / NHLBI NIH HHS / United States N01 HC-15103 / HC / NHLBI NIH HHS / United States N01 HC-55222 / HC / NHLBI NIH HHS / United States N01-HC-25195 / HC / NHLBI NIH HHS / United States N01-HC-35129 / HC / NHLBI NIH HHS / United States N01-HC-45133 / HC / NHLBI NIH HHS / United States N01-HC-75150 / HC / NHLBI NIH HHS / United States N01-HC-85079 / HC / NHLBI NIH HHS / United States N01-HC-85080 / HC / NHLBI NIH HHS / United States N01-HC-85081 / HC / NHLBI NIH HHS / United States N01-HC-85082 / HC / NHLBI NIH HHS / United States N01-HC-85083 / HC / NHLBI NIH HHS / United States N01-HC-85084 / HC / NHLBI NIH HHS / United States N01-HC-85085 / HC / NHLBI NIH HHS / United States N01-HC-85086 / HC / NHLBI NIH HHS / United States N01-HC-85239 / HC / NHLBI NIH HHS / United States R01 HL072810 / HL / NHLBI NIH HHS / United States RC2 HL102419 / HL / NHLBI NIH HHS / United States RC2HL102419-02 / HL / NHLBI NIH HHS / United States U54 HG003273 / HG / NHGRI NIH HHS / United States |