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Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.


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 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?×?10-8) 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.

SUBMITTER: Chen H 

PROVIDER: S-EPMC5854957 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.

Chen Han H   Cade Brian E BE   Gleason Kevin J KJ   Bjonnes Andrew C AC   Stilp Adrienne M AM   Sofer Tamar T   Conomos Matthew P MP   Ancoli-Israel Sonia S   Arens Raanan R   Azarbarzin Ali A   Bell Graeme I GI   Below Jennifer E JE   Chun Sung S   Evans Daniel S DS   Ewert Ralf R   Frazier-Wood Alexis C AC   Gharib Sina A SA   Haba-Rubio José J   Hagen Erika W EW   Heinzer Raphael R   Hillman David R DR   Johnson W Craig WC   Kutalik Zoltan Z   Lane Jacqueline M JM   Larkin Emma K EK   Lee Seung Ku SK   Liang Jingjing J   Loredo Jose S JS   Mukherjee Sutapa S   Palmer Lyle J LJ   Papanicolaou George J GJ   Penzel Thomas T   Peppard Paul E PE   Post Wendy S WS   Ramos Alberto R AR   Rice Ken K   Rotter Jerome I JI   Sands Scott A SA   Shah Neomi A NA   Shin Chol C   Stone Katie L KL   Stubbe Beate B   Sul Jae Hoon JH   Tafti Mehdi M   Taylor Kent D KD   Teumer Alexander A   Thornton Timothy A TA   Tranah Gregory J GJ   Wang Chaolong C   Wang Heming H   Warby Simon C SC   Wellman D Andrew DA   Zee Phyllis C PC   Hanis Craig L CL   Laurie Cathy C CC   Gottlieb Daniel J DJ   Patel Sanjay R SR   Zhu Xiaofeng X   Sunyaev Shamil R SR   Saxena Richa R   Lin Xihong X   Redline Susan S  

American journal of respiratory cell and molecular biology 20180301 3


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  ...[more]

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