Genome-wide Survey of Copy Number Variants Associated with Blood Pressure and Body Mass Index in a Korean Population.

Moon,  Sanghoon; Kim,  Young Jin; Kim,  Yun Kyoung; Kim,  Dong Joon; Lee,  Ji Young; Go,  Min Jin; Shin,  Young Ah; Hong,  Chang Bum; Kim,  Bong Jo

doi:2011.9.4.152

Genomics Inform > Volume 9(4); 2011 > Article

Original Article

Genomics & Informatics 2011;9(4): 152-160.

DOI: https://doi.org/10.5808/gi.2011.9.4.152

Genome-wide Survey of Copy Number Variants Associated with Blood Pressure and Body Mass Index in a Korean Population.

Sanghoon Moon, Young Jin Kim, Yun Kyoung Kim, Dong Joon Kim, Ji Young Lee, Min Jin Go, Young Ah Shin, Chang Bum Hong, Bong Jo Kim

Division of Structural and Functional Genomics, Center for Genome Science, Korea National Institute of Health, Osong 363-951, Korea. kbj6181@cdc.go.kr

Abstract

Hypertension is the major factor of most death and high blood pressure (BP) can lead to stroke, myocardial infarction and cardiac failure. Moreover, hypertension is strongly correlated with body mass index (BMI). Although the exact causes of hypertension are still unclear, some of genetic loci were discovered from genome-wide association study (GWAS). Therefore, it is essential to study genetic variation for finding more genetic factor affecting hypertension. The purpose of our study is to conduct a CNV association study for hypertension-related traits, BP and BMI, in Korean individuals. We identified 2,206 CNV regions from 3,274 community-based Korean participants using the Affymetrix Genome-Wide Human SNP Array 6.0 platform and performed a logistic regression analysis of CNVs with two hypertension-related traits, BP and BMI. Moreover, the 4,692 participants in an independent cohort were selected for respective replication analyses. GWAS of CNV identified two loci encompassing previously known hypertension-related genes: LPA (lipoprotein) on 6q26, and JAK2 (Janus kinase 2) on 9p24, with suggestive p-values (0.0334 for LPA and 0.0305 for JAK2). These two positive findings, however, were not evaluated in the replication stage. Our result confirmed the conclusion of CNV study from the WTCCC suggesting weak association with common diseases. This is the first study of CNV association study with BP and BMI in Korean population and it provides a state of CNV association study with common human diseases using SNP array.

Keywords: copy number variation; hypertension-related traits; BMI; blood pressure; genome-wide association study