Lack of Replication of Genetic Association with Body Mass Index Detected by Genome-wide Association Study.

Lee,  Hae In; Kim,  Jae Jung; Park,  Taesung; Kim,  Kyunga; Lee,  Jong Eun; Cho,  Yoon Shin; Lee,  Jong Young; Han,  Bok Ghee; Lee,  Jong Keuk

doi:2011.9.2.59

Genomics Inform > Volume 9(2); 2011 > Article

Original Article

Genomics & Informatics 2011;9(2): 59-63.

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)