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Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.
Chen, H, Cade, BE, Gleason, KJ, Bjonnes, AC, Stilp, AM, Sofer, T, Conomos, MP, Ancoli-Israel, S, Arens, R, Azarbarzin, A, et al
American journal of respiratory cell and molecular biology. 2018;(3):391-401
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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.
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Cyclic adenosine monophosphate-regulated transcriptional co-activator 3 polymorphism in Chinese patients with acute coronary syndrome.
Zhu, L, Wang, Y, Jiang, J, Zhou, R, Ye, J
Medicine. 2018;(27):e11382
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Abstract
To investigate the cAMP-regulated transcriptional co-activator 3 (CRTC3) polymorphism and its significance in the acute coronary syndrome patients.In total, 248 patients with acute coronary syndrome admitted to Taizhou People's Hospital between March 2016 and October 2016 were included in this study. Eighty-eight age- and gender-matched healthy individuals received physical examination in our hospital served as normal control. Single nucleotide polymorphism (SNP) analysis of CRTC3 (rs3862434 and rs11635252) was evaluated using PCR amplification.For the SNP of CRTC3, significant differences were identified in rs3862434 (AA/AG) and rs11635252 (TT/CT/CC) between the 2 groups (P < .05). Statistical increase was noticed in the high density lipoprotein cholesterol (HDL-C) in those with AG phenotype compared with those with AA phenotype in those with rs3862434. Significant decrease was identified in the total cholesterol (TC), triglyceride (TG), and weight in those with CC phenotype compared with those with CT phenotype among the cases with rs11635252 (P < .05).CRTC3 polymorphism was associated with the onset of acute coronary syndrome in Han Chinese patients, which may be related to the imbalance of the lipid metabolism.