Open Access Research article

Identification of a genetic variant at 2q12.1 associated with blood pressure in East-Asians by genome-wide scan including gene-environment interactions

Yun Kyoung Kim12, Youngdoe Kim1, Mi Yeong Hwang1, Kazuro Shimokawa3, Sungho Won4, Norihiro Kato3, Yasuharu Tabara5, Mitsuhiro Yokota6, Bok-Ghee Han1, Jong Ho Lee2 and Bong-Jo Kim1*

Author Affiliations

1 Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Centers for Disease Control and Prevention, 363-700 Chungcheongbuk-do, Republic of Korea

2 Department of Food and Nutrition, College of Human Ecology, Yonsei University, Seoul, Republic of Korea

3 Department of Gene Diagnostics and Therapeutics Research Institute, National Center for Global Health and Medicine, Tokyo, Japan

4 Department of Applied Statistics, Chung-Ang University, Seoul, Republic of Korea

5 Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan

6 Department of Genome Science, Aichi-Gakuin University, School of Dentistry, Nagoya, Japan

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BMC Medical Genetics 2014, 15:65  doi:10.1186/1471-2350-15-65

Published: 5 June 2014



Genome-wide association studies have identified many genetic loci associated with blood pressure (BP). Genetic effects on BP can be altered by environmental exposures via multiple biological pathways. Especially, obesity is one of important environmental risk factors that can have considerable effect on BP and it may interact with genetic factors. Given that, we aimed to test whether genetic factors and obesity may jointly influence BP.


We performed meta-analyses of genome-wide association data for systolic blood pressure (SBP) and diastolic blood pressure (DBP) that included analyses of interaction between single nucleotide polymorphisms (SNPs) and the obesity-related anthropometric measures, body mass index (BMI), height, weight, and waist/hip ratio (WHR) in East-Asians (n = 12,030).


We identified that rs13390641 on 2q12.1 demonstrated significant association with SBP when the interaction between SNPs and BMI was considered (P < 5 × 10 -8). The gene located nearest to rs13390641, TMEM182, encodes transmembrane protein 182. In stratified analyses, the effect of rs13390641 on BP was much stronger in obese individuals (BMI ≥ 30) than non-obese individuals and the effect of BMI on BP was strongest in individuals with the homozygous A allele of rs13390641.


Our analyses that included interactions between SNPs and environmental factors identified a genetic variant associated with BP that was overlooked in standard analyses in which only genetic factors were included. This result also revealed a potential mechanism that integrates genetic factors and obesity related traits in the development of high BP.

Blood pressure; Genome-wide scan; Gene-environment interaction; Meta-analysis; Obesity