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Didi Zhu,Jiamin Yuan,Rui Zhu,Yao Wang,Zhiyong Qian,Jiangang Zou.Journal of Biomedical Research,2018,32(5):361-370
Pathway-based analysis of genome-wide association study of circadian phenotypes
Received:September 24, 2017  Revised:January 02, 2018
DOI10.7555/JBR.32.20170102
Keywordscircadian phenotypes, genome-wide association studies, pathway-based analysis
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Didi Zhu Department of Cardiology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu , China
Jiamin Yuan Department of Cardiology, the First Affiliated Hospital of Soochow University, Suzhou, Jiangsu , China
Rui Zhu Department of Cardiology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu , China
Yao Wang Department of Cardiology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu , China
Zhiyong Qian Department of Cardiology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu , China
Jiangang Zou Department of Cardiology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu , China
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Abstract
      Sleepiness affects normal social life, which attracts more and more attention. Circadian phenotypes contribute to obvious individual differences in susceptibility to sleepiness. We aimed to identify candidate single nucleotide polymorphisms (SNPs) which may cause circadian phenotypes, elucidate the potential mechanisms, and generate corresponding SNP-gene-pathways. A genome-wide association studies (GWAS) dataset of circadian phenotypes was utilized in the study. Then, the Identify Candidate Causal SNPs and Pathways analysis was employed to the GWAS dataset after quality control filters. Furthermore, genotype-phenotype association analysis was performed with HapMap database. Four SNPs in three different genes were determined to correlate with usual weekday bedtime, totally providing seven hypothetical mechanisms. Eleven SNPs in six genes were identified to correlate with usual weekday sleep duration, which provided six hypothetical pathways. Our results demonstrated that fifteen candidate SNPs in eight genes played vital roles in six hypothetical pathways implicated in usual weekday bedtime and six potential pathways involved in usual weekday sleep duration.
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