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Association of genetic loci with sleep apnea in European Americans and African-Americans: the Candidate Gene Association Resource (CARe).
Thursday,2013-12-19 16:47 America/Los_Angeles — poolea2
| Title | Association of genetic loci with sleep apnea in European Americans and African-Americans: the Candidate Gene Association Resource (CARe). |
| Publication Type | Journal Article |
| Year of Publication | 2012 |
| Authors | Patel, SR, Goodloe, R, De, G, Kowgier, M, Weng, J, Buxbaum, SG, Cade, B, Fulop, T, Gharib, SA, Gottlieb, DJ, Hillman, D, Larkin, EK, Lauderdale, DS, Li, L, Mukherjee, S, Palmer, L, Zee, P, Zhu, X, Redline, S |
| Journal | PLoS One |
| Volume | 7 |
| Issue | 11 |
| Pagination | e48836 |
| Date Published | 2012 |
| ISSN | 1932-6203 |
| Keywords | Adult, African Americans, Aged, Alleles, European Continental Ancestry Group, Female, Genetic Association Studies, Genetic Loci, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Polysomnography, Sleep Apnea, Obstructive |
| Abstract | <p>Although obstructive sleep apnea (OSA) is known to have a strong familial basis, no genetic polymorphisms influencing apnea risk have been identified in cross-cohort analyses. We utilized the National Heart, Lung, and Blood Institute (NHLBI) Candidate Gene Association Resource (CARe) to identify sleep apnea susceptibility loci. Using a panel of 46,449 polymorphisms from roughly 2,100 candidate genes on a customized Illumina iSelect chip, we tested for association with the apnea hypopnea index (AHI) as well as moderate to severe OSA (AHI≥15) in 3,551 participants of the Cleveland Family Study and two cohorts participating in the Sleep Heart Health Study.Among 647 African-Americans, rs11126184 in the pleckstrin (PLEK) gene was associated with OSA while rs7030789 in the lysophosphatidic acid receptor 1 (LPAR1) gene was associated with AHI using a chip-wide significance threshold of p-value<2×10(-6). Among 2,904 individuals of European ancestry, rs1409986 in the prostaglandin E2 receptor (PTGER3) gene was significantly associated with OSA. Consistency of effects between rs7030789 and rs1409986 in LPAR1 and PTGER3 and apnea phenotypes were observed in independent clinic-based cohorts.Novel genetic loci for apnea phenotypes were identified through the use of customized gene chips and meta-analyses of cohort data with replication in clinic-based samples. The identified SNPs all lie in genes associated with inflammation suggesting inflammation may play a role in OSA pathogenesis.</p> |
| DOI | 10.1371/journal.pone.0048836 |
| Alternate Journal | PLoS ONE |
| PubMed ID | 23155414 |
| PubMed Central ID | PMC3498243 |
| Grant List | UL1RR025005 / RR / NCRR NIH HHS / United States 268201100011C / / PHS HHS / United States 268201100005C / / PHS HHS / United States R01HL59367 / HL / NHLBI NIH HHS / United States 268201100007C / / PHS HHS / United States AG-15928 / AG / NIA NIH HHS / United States 268201100012C / / PHS HHS / United States 268201100008C / / PHS HHS / United States HL94092 / HL / NHLBI NIH HHS / United States AG-20098 / AG / NIA NIH HHS / United States N01-HC-85086 / HC / NHLBI NIH HHS / United States U01HG004402 / HG / NHGRI NIH HHS / United States AG-027058 / AG / NIA NIH HHS / United States 268200625226C / / PHS HHS / United States N01-HC-35129 / HC / NHLBI NIH HHS / United States N01 HC-55222 / HC / NHLBI NIH HHS / United States P20 MD006899 / MD / NIMHD NIH HHS / United States R01HL087641 / HL / NHLBI NIH HHS / United States HL46380 / HL / NHLBI NIH HHS / United States 268201100009C / / PHS HHS / United States CA116867 / CA / NCI NIH HHS / United States N01-HC-75150 / HC / NHLBI NIH HHS / United States N01 HC-15103 / HC / NHLBI NIH HHS / United States 268201100006C / / PHS HHS / United States 268201100010C / / PHS HHS / United States N01-HC-45133 / HC / NHLBI NIH HHS / United States N01-HC-85079 / HC / NHLBI NIH HHS / United States HL080295 / HL / NHLBI NIH HHS / United States N01-HC-85239 / HC / NHLBI NIH HHS / United States AG-023629 / AG / NIA NIH HHS / United States HL081385 / HL / NHLBI NIH HHS / United States R01HL086694 / HL / NHLBI NIH HHS / United States |