Joint Identification of Genetic Variants for Physical Activity in Korean Population

• Main Authors: Jayoun Kim, Jaehee Kim, Haesook Min, Sohee Oh, Yeonjung Kim, Andy H. Lee, Taesung Park
• Format: Article
• Language: English
• Published: MDPI AG 2014-07-01
• Series: International Journal of Molecular Sciences
• Subjects: elastic-net regularization; empirical replication; metabolic equivalent task
• Online Access: http://www.mdpi.com/1422-0067/15/7/12407

There has been limited research on genome-wide association with physical activity (PA). This study ascertained genetic associations between PA and 344,893 single nucleotide polymorphism (SNP) markers in 8842 Korean samples. PA data were obtained from a validated questionnaire that included information on PA intensity and duration. Metabolic equivalent of tasks were calculated to estimate the total daily PA level for each individual. In addition to single- and multiple-SNP association tests, a pathway enrichment analysis was performed to identify the biological significance of SNP markers. Although no significant SNP was found at genome-wide significance level via single-SNP association tests, 59 genetic variants mapped to 76 genes were identified via a multiple SNP approach using a bootstrap selection stability measure. Pathway analysis for these 59 variants showed that maturity onset diabetes of the young (MODY) was enriched. Joint identification of SNPs could enable the identification of multiple SNPs with good predictive power for PA and a pathway enriched for PA.