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Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.
Tuesday,2018-05-01 17:36 America/Los_Angeles — ecterry
| Title | Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. |
| Publication Type | Journal Article |
| Year of Publication | 2018 |
| Authors | Chen, H, Cade, BE, Gleason, KJ, Bjonnes, AC, Stilp, AM, Sofer, T, Conomos, MP, Ancoli-Israel, S, Arens, R, Azarbarzin, A, Bell, GI, Below, JE, Chun, S, Evans, DS, Ewert, R, Frazier-Wood, AC, Gharib, SA, Haba-Rubio, J, Hagen, EW, Heinzer, R, Hillman, DR, W Johnson, C, Kutalik, Z, Lane, JM, Larkin, EK, Lee, SKu, Liang, J, Loredo, JS, Mukherjee, S, Palmer, LJ, Papanicolaou, GJ, Penzel, T, Peppard, PE, Post, WS, Ramos, AR, Rice, K, Rotter, JI, Sands, SA, Shah, NA, Shin, C, Stone, KL, Stubbe, B, Sul, JHoon, Tafti, M, Taylor, KD, Teumer, A, Thornton, TA, Tranah, GJ, Wang, C, Wang, H, Warby, SC, D Wellman, A, Zee, PC, Hanis, CL, Laurie, CC, Gottlieb, DJ, Patel, SR, Zhu, X, Sunyaev, SR, Saxena, R, Lin, X, Redline, S |
| Journal | Am J Respir Cell Mol Biol |
| Volume | 58 |
| Issue | 3 |
| Pagination | 391-401 |
| Date Published | 2018 Mar |
| ISSN | 1535-4989 |
| Abstract | <p>Obstructive sleep apnea (OSA) is a common heritable disorder displaying marked sexual dimorphism in disease prevalence and progression. Previous genetic association studies have identified a few genetic loci associated with OSA and related quantitative traits, but they have only focused on single ethnic groups, and a large proportion of the heritability remains unexplained. The apnea-hypopnea index (AHI) is a commonly used quantitative measure characterizing OSA severity. Because OSA differs by sex, and the pathophysiology of obstructive events differ in rapid eye movement (REM) and non-REM (NREM) sleep, we hypothesized that additional genetic association signals would be identified by analyzing the NREM/REM-specific AHI and by conducting sex-specific analyses in multiethnic samples. We performed genome-wide association tests for up to 19,733 participants of African, Asian, European, and Hispanic/Latino American ancestry in 7 studies. We identified rs12936587 on chromosome 17 as a possible quantitative trait locus for NREM AHI in men (N = 6,737; P = 1.7 × 10) but not in women (P = 0.77). The association with NREM AHI was replicated in a physiological research study (N = 67; P = 0.047). This locus overlapping the RAI1 gene and encompassing genes PEMT1, SREBF1, and RASD1 was previously reported to be associated with coronary artery disease, lipid metabolism, and implicated in Potocki-Lupski syndrome and Smith-Magenis syndrome, which are characterized by abnormal sleep phenotypes. We also identified gene-by-sex interactions in suggestive association regions, suggesting that genetic variants for AHI appear to vary by sex, consistent with the clinical observations of strong sexual dimorphism.</p> |
| DOI | 10.1165/rcmb.2017-0237OC |
| Alternate Journal | Am. J. Respir. Cell Mol. Biol. |
| PubMed ID | 29077507 |
| PubMed Central ID | PMC5854957 |
| Grant List | U01 DK085501 / DK / NIDDK NIH HHS / United States HHSN268201100012C / HL / NHLBI NIH HHS / United States R01 HL103612 / HL / NHLBI NIH HHS / United States HHSN268201300005C / HL / NHLBI NIH HHS / United States HHSN268201100009I / HL / NHLBI NIH HHS / United States HHSN268201500003C / HL / NHLBI NIH HHS / United States P50 HL056984 / HL / NHLBI NIH HHS / United States R35 CA197449 / CA / NCI NIH HHS / United States N01HC95160 / HL / NHLBI NIH HHS / United States R01 HL120393 / HL / NHLBI NIH HHS / United States R01 HL070848 / HL / NHLBI NIH HHS / United States R01 HL046380 / HL / NHLBI NIH HHS / United States HHSN268201100010C / HL / NHLBI NIH HHS / United States R01 HL071194 / HL / NHLBI NIH HHS / United States N01HC95163 / HL / NHLBI NIH HHS / United States HHSN268201100008C / HL / NHLBI NIH HHS / United States U01 HL080295 / HL / NHLBI NIH HHS / United States UL1 TR001079 / TR / NCATS NIH HHS / United States HHSN268201100005G / HL / NHLBI NIH HHS / United States R01 HL070847 / HL / NHLBI NIH HHS / United States HHSN268201100008I / HL / NHLBI NIH HHS / United States UL1 TR000128 / TR / NCATS NIH HHS / United States U01 HL130114 / HL / NHLBI NIH HHS / United States HHSN268201100007C / HL / NHLBI NIH HHS / United States HHSN268200800007C / HL / NHLBI NIH HHS / United States R01 HL085251 / HL / NHLBI NIH HHS / United States N01HC95169 / HL / NHLBI NIH HHS / United States R01 HL113338 / HL / NHLBI NIH HHS / United States HHSN268201100011I / HL / NHLBI NIH HHS / United States T32 HL007901 / HL / NHLBI NIH HHS / United States HHSN268201100011C / HL / NHLBI NIH HHS / United States N01HC65236 / HL / NHLBI NIH HHS / United States R01 HL070842 / HL / NHLBI NIH HHS / United States U01 AG042124 / AG / NIA NIH HHS / United States N01HC65235 / HL / NHLBI NIH HHS / United States R01 HL087652 / HL / NHLBI NIH HHS / United States N01HC95164 / HL / NHLBI NIH HHS / United States UL1 TR000124 / TR / NCATS NIH HHS / United States N01HC55222 / HL / NHLBI NIH HHS / United States U01 AG042145 / AG / NIA NIH HHS / United States N02HL64278 / HL / NHLBI NIH HHS / United States N01HC95162 / HL / NHLBI NIH HHS / United States R01 DK107859 / DK / NIDDK NIH HHS / United States N01HC85086 / HL / NHLBI NIH HHS / United States N01HC65234 / HL / NHLBI NIH HHS / United States R01 HL105756 / HL / NHLBI NIH HHS / United States N01HC95168 / HL / NHLBI NIH HHS / United States R01 HL102830 / HL / NHLBI NIH HHS / United States R01 DK073541 / DK / NIDDK NIH HHS / United States R35 HL135818 / HL / NHLBI NIH HHS / United States P30 DK063491 / DK / NIDDK NIH HHS / United States HHSN268201100006C / HL / NHLBI NIH HHS / United States N01HC65233 / HL / NHLBI NIH HHS / United States HHSN268201200036C / HL / NHLBI NIH HHS / United States U01 HL053941 / HL / NHLBI NIH HHS / United States N01HC65237 / HL / NHLBI NIH HHS / United States HHSN268201100005I / HL / NHLBI NIH HHS / United States R01 HL062252 / HL / NHLBI NIH HHS / United States U01 AG042168 / AG / NIA NIH HHS / United States N01HC95165 / HL / NHLBI NIH HHS / United States N01HC95159 / HL / NHLBI NIH HHS / United States R01 HL070841 / HL / NHLBI NIH HHS / United States N01HC95161 / HL / NHLBI NIH HHS / United States U01 AG042140 / AG / NIA NIH HHS / United States R01 HL070838 / HL / NHLBI NIH HHS / United States KL2 RR024990 / RR / NCRR NIH HHS / United States R01 AR051124 / AR / NIAMS NIH HHS / United States R01 AI085014 / AI / NIAID NIH HHS / United States N01HC85082 / HL / NHLBI NIH HHS / United States N01HC95167 / HL / NHLBI NIH HHS / United States R01 HL070839 / HL / NHLBI NIH HHS / United States HHSN268201100009C / HL / NHLBI NIH HHS / United States N01HC85083 / HL / NHLBI NIH HHS / United States HHSN268201100005C / HL / NHLBI NIH HHS / United States N01HC25195 / HL / NHLBI NIH HHS / United States RC2 AR058973 / AR / NIAMS NIH HHS / United States HHSN268201100007I / HL / NHLBI NIH HHS / United States UL1 TR000040 / TR / NCATS NIH HHS / United States P01 CA134294 / CA / NCI NIH HHS / United States U01 AG027810 / AG / NIA NIH HHS / United States N01HC85079 / HL / NHLBI NIH HHS / United States N01HC95166 / HL / NHLBI NIH HHS / United States R01 AG023629 / AG / NIA NIH HHS / United States UL1 TR001881 / TR / NCATS NIH HHS / United States N01HC85080 / HL / NHLBI NIH HHS / United States R01 HL070837 / HL / NHLBI NIH HHS / United States U01 AG042143 / AG / NIA NIH HHS / United States U01 AG042139 / AG / NIA NIH HHS / United States P30 DK020595 / DK / NIDDK NIH HHS / United States K01 HL135405 / HL / NHLBI NIH HHS / United States U01 AR066160 / AR / NIAMS NIH HHS / United States N01HC85081 / HL / NHLBI NIH HHS / United States R01 DK105072 / DK / NIDDK NIH HHS / United States |
ePub date:
18/03