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Int. J. Mol. Sci. 2014, 15(7), 12407-12421;

Joint Identification of Genetic Variants for Physical Activity in Korean Population

Biomedical Research Institute, Seoul National University Bundang Hospital, Seongnam-si 463707, Korea
Interdisciplinary Program in Bioinformatics, Seoul National University, Seoul 151742, Korea
Division of Epidemiology and Health Index, Center for Genome Science, Korea Centers for Disease Control & Prevention, Cheongwon-gun 363951, Korea
Department of Biostatistics, SMG-SNU Boramae Medical Center, Seoul 156707, Korea
School of Public Health, Curtin University, Perth 6845, Australia
Department of Statistics, Seoul National University, Seoul 151742, Korea
Author to whom correspondence should be addressed.
Received: 23 April 2014 / Accepted: 11 June 2014 / Published: 14 July 2014
(This article belongs to the Collection Human Single Nucleotide Polymorphisms and Disease Diagnostics)
PDF [728 KB, uploaded 14 July 2014]


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. View Full-Text
Keywords: elastic-net regularization; empirical replication; metabolic equivalent task elastic-net regularization; empirical replication; metabolic equivalent task

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Kim, J.; Kim, J.; Min, H.; Oh, S.; Kim, Y.; Lee, A.H.; Park, T. Joint Identification of Genetic Variants for Physical Activity in Korean Population. Int. J. Mol. Sci. 2014, 15, 12407-12421.

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