rs117733138 - BTBD9

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-Wide Association Study of Obstructive Sleep Apnea and Objective Sleep-related Traits Identifies Novel Risk Loci in Han Chinese Individuals. - American journal of respiratory and critical care medicine (2022) · Xu H, Liu F, Li Z, Li X, Liu Y, Li N, Zhang X, Gao Z, Zhang X, Liu Y, Zou J, Meng L, Liu S, Zhu H, Tang X, Wu H, Su K, Chen B, Yu D, Ye H, Chen H, Yi H, Yin S, Guan J, Shi Y · PubMed 35819321

  Previous genetic studies of obstructive sleep apnea (OSA) have limitations in terms of precise case definition, integrated quantitative traits, and interpretation of genetic functions; thus, the heritability of OSA remains poorly explained. To identify novel genetic variants associated with OSA and objective sleep-related traits and to explore their functional roles. A genome-wide association study was performed in 20,590 Han Chinese individuals (5,438 OSA and 15,152 control samples). Human samples and point mutation knockin mice were used for follow-up investigation of gene functions. Two characteristic study-wide significant loci ( < 2.63 × 10 ) for OSA were identified: the intronic variant rs6455893 on 6q26 (odds ratio [OR] = 1.62; 95% confidence interval [CI], 1.39-1.89; =

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