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Genomics Inform > Volume 9(2); 2011 > Article
DOI: https://doi.org/10.5808/gi.2011.9.2.59   
Lack of Replication of Genetic Association with Body Mass Index Detected by Genome-wide Association Study.
Hae In Lee, Jae Jung Kim, Taesung Park, Kyunga Kim, Jong Eun Lee, Yoon Shin Cho, Jong Young Lee, Bok Ghee Han, Jong Keuk Lee
1Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul 138-736, Korea. cookie_jklee@hotmail.com
2Department of Statistics, College of Natural Science, Seoul National University, Seoul 110-744, Korea.
3Department of Statistics, Sookmyung Women's University, Seoul 140-742, Korea.
4DNA Link, Seoul 121-850, Korea.
5Center for Genome Science, National Institute of Health, Chungwon 363-951, Korea.
Abstract
Obesity provokes many serious human diseases, including various cardiovascular diseases and diabetes. Body mass index (BMI) is a highly heritable trait that is broadly used to diagnose obesity. To identify genetic loci associated with obesity in Asians, we conducted a genome-wide association study (GWAS) of a population of Korean adults (n=6,742, age 40~60 years) and detected six BMI risk loci (TNR, FAM124B, RGS12, NFE2L3, MC4R and FTO) having p<1x10(-5). However, in the replication study, only melanocortin 4 receptor gene (MC4R) (rs9946888, p=4.58x10(-7)) was replicated with marginal significance (p<0.05) in the second cohort (n=5,102, age 40~60 years). This study indicates that each locus associated with BMI has very weak genetic effect.
Keywords: genome-wide association study (GWAS); body mass index (BMI); Korean; single nucleotide polymorphism (SNP)


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