Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men
DC Field | Value | Language |
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dc.contributor.author | Chen, Han | - |
dc.contributor.author | Cade, Brian E. | - |
dc.contributor.author | Gleason, Kevin J. | - |
dc.contributor.author | Bjonnes, Andrew C. | - |
dc.contributor.author | Stilp, Adrienne M. | - |
dc.contributor.author | Sofer, Tamar | - |
dc.contributor.author | Conomos, Matthew P. | - |
dc.contributor.author | Ancoli-Israel, Sonia | - |
dc.contributor.author | Arens, Raanan | - |
dc.contributor.author | Azarbarzin, Ali | - |
dc.contributor.author | Bell, Graeme I. | - |
dc.contributor.author | Below, Jennifer E. | - |
dc.contributor.author | Chun, Sung | - |
dc.contributor.author | Evans, Daniel S. | - |
dc.contributor.author | Ewert, Ralf | - |
dc.contributor.author | Frazier-Wood, Alexis C. | - |
dc.contributor.author | Gharib, Sina A. | - |
dc.contributor.author | Haba-Rubio, Jose | - |
dc.contributor.author | Hagen, Erika W. | - |
dc.contributor.author | Heinzer, Raphael | - |
dc.contributor.author | Hillman, David R. | - |
dc.contributor.author | Johnson, W. Craig | - |
dc.contributor.author | Kutalik, Zoltan | - |
dc.contributor.author | Lane, Jacqueline M. | - |
dc.contributor.author | Larkin, Emma K. | - |
dc.contributor.author | Lee, Seung Ku | - |
dc.contributor.author | Liang, Jingjing | - |
dc.contributor.author | Loredo, Jose S. | - |
dc.contributor.author | Mukherjee, Sutapa | - |
dc.contributor.author | Palmer, Lyle J. | - |
dc.contributor.author | Papanicolaou, George J. | - |
dc.contributor.author | Penzel, Thomas | - |
dc.contributor.author | Peppard, Paul E. | - |
dc.contributor.author | Post, Wendy S. | - |
dc.contributor.author | Ramos, Alberto R. | - |
dc.contributor.author | Rice, Ken | - |
dc.contributor.author | Rotter, Jerome I. | - |
dc.contributor.author | Sands, Scott A. | - |
dc.contributor.author | Shah, Neomi A. | - |
dc.contributor.author | Shin, Chol | - |
dc.contributor.author | Stone, Katie L. | - |
dc.contributor.author | Stubbe, Beate | - |
dc.contributor.author | Sul, Jae Hoon | - |
dc.contributor.author | Tafti, Mehdi | - |
dc.contributor.author | Taylor, Kent D. | - |
dc.contributor.author | Teumer, Alexander | - |
dc.contributor.author | Thornton, Timothy A. | - |
dc.contributor.author | Tranah, Gregory J. | - |
dc.contributor.author | Wang, Chaolong | - |
dc.contributor.author | Wang, Heming | - |
dc.contributor.author | Warby, Simon C. | - |
dc.contributor.author | Wellman, D. Andrew | - |
dc.contributor.author | Zee, Phyllis C. | - |
dc.contributor.author | Hanis, Craig L. | - |
dc.contributor.author | Laurie, Cathy C. | - |
dc.contributor.author | Gottlieb, Daniel J. | - |
dc.contributor.author | Patel, Sanjay R. | - |
dc.contributor.author | Zhu, Xiaofeng | - |
dc.contributor.author | Sunyaev, Shamil R. | - |
dc.contributor.author | Saxena, Richa | - |
dc.contributor.author | Lin, Xihong | - |
dc.contributor.author | Redline, Susan | - |
dc.date.accessioned | 2021-09-02T13:55:55Z | - |
dc.date.available | 2021-09-02T13:55:55Z | - |
dc.date.created | 2021-06-16 | - |
dc.date.issued | 2018-03 | - |
dc.identifier.issn | 1044-1549 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/76793 | - |
dc.description.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. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | AMER THORACIC SOC | - |
dc.subject | HIGH-DENSITY | - |
dc.subject | GENE | - |
dc.subject | DISTURBANCES | - |
dc.subject | DUPLICATION | - |
dc.subject | ASSOCIATION | - |
dc.subject | SEVERITY | - |
dc.subject | DISEASE | - |
dc.subject | 17P11.2 | - |
dc.subject | OBESITY | - |
dc.subject | GENDER | - |
dc.title | Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Shin, Chol | - |
dc.identifier.doi | 10.1165/rcmb.2017-0237OC | - |
dc.identifier.scopusid | 2-s2.0-85045223869 | - |
dc.identifier.wosid | 000427013700015 | - |
dc.identifier.bibliographicCitation | AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, v.58, no.3, pp.391 - 401 | - |
dc.relation.isPartOf | AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY | - |
dc.citation.title | AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY | - |
dc.citation.volume | 58 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 391 | - |
dc.citation.endPage | 401 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Biochemistry & Molecular Biology | - |
dc.relation.journalResearchArea | Cell Biology | - |
dc.relation.journalResearchArea | Respiratory System | - |
dc.relation.journalWebOfScienceCategory | Biochemistry & Molecular Biology | - |
dc.relation.journalWebOfScienceCategory | Cell Biology | - |
dc.relation.journalWebOfScienceCategory | Respiratory System | - |
dc.subject.keywordPlus | HIGH-DENSITY | - |
dc.subject.keywordPlus | GENE | - |
dc.subject.keywordPlus | DISTURBANCES | - |
dc.subject.keywordPlus | DUPLICATION | - |
dc.subject.keywordPlus | ASSOCIATION | - |
dc.subject.keywordPlus | SEVERITY | - |
dc.subject.keywordPlus | DISEASE | - |
dc.subject.keywordPlus | 17P11.2 | - |
dc.subject.keywordPlus | OBESITY | - |
dc.subject.keywordPlus | GENDER | - |
dc.subject.keywordAuthor | obstructive sleep apnea | - |
dc.subject.keywordAuthor | genetics | - |
dc.subject.keywordAuthor | genome-wide association studies | - |
dc.subject.keywordAuthor | multiethnic | - |
dc.subject.keywordAuthor | sexual dimorphism | - |
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