Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men
- Authors
- Chen, Han; Cade, Brian E.; Gleason, Kevin J.; Bjonnes, Andrew C.; Stilp, Adrienne M.; Sofer, Tamar; Conomos, Matthew P.; Ancoli-Israel, Sonia; Arens, Raanan; Azarbarzin, Ali; Bell, Graeme I.; Below, Jennifer E.; Chun, Sung; Evans, Daniel S.; Ewert, Ralf; Frazier-Wood, Alexis C.; Gharib, Sina A.; Haba-Rubio, Jose; Hagen, Erika W.; Heinzer, Raphael; Hillman, David R.; Johnson, W. Craig; Kutalik, Zoltan; Lane, Jacqueline M.; Larkin, Emma K.; Lee, Seung Ku; Liang, Jingjing; Loredo, Jose S.; Mukherjee, Sutapa; Palmer, Lyle J.; Papanicolaou, George J.; Penzel, Thomas; Peppard, Paul E.; Post, Wendy S.; Ramos, Alberto R.; Rice, Ken; Rotter, Jerome I.; Sands, Scott A.; Shah, Neomi A.; Shin, Chol; Stone, Katie L.; Stubbe, Beate; Sul, Jae Hoon; Tafti, Mehdi; Taylor, Kent D.; Teumer, Alexander; Thornton, Timothy A.; Tranah, Gregory J.; Wang, Chaolong; Wang, Heming; Warby, Simon C.; Wellman, D. Andrew; Zee, Phyllis C.; Hanis, Craig L.; Laurie, Cathy C.; Gottlieb, Daniel J.; Patel, Sanjay R.; Zhu, Xiaofeng; Sunyaev, Shamil R.; Saxena, Richa; Lin, Xihong; Redline, Susan
- Issue Date
- 3월-2018
- Publisher
- AMER THORACIC SOC
- Keywords
- obstructive sleep apnea; genetics; genome-wide association studies; multiethnic; sexual dimorphism
- Citation
- AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, v.58, no.3, pp.391 - 401
- Indexed
- SCIE
SCOPUS
- Journal Title
- AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
- Volume
- 58
- Number
- 3
- Start Page
- 391
- End Page
- 401
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/76793
- DOI
- 10.1165/rcmb.2017-0237OC
- ISSN
- 1044-1549
- Abstract
- 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 genomewide 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 = 1.7310(-8)) but not in women (P = 0.77). The association with NREMAHI 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.
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