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

Abstract

Abstract Hypertension is the major factor of most death and high blood pressure (BP) can lead to stroke, myocardial in-farction and cardiac failure. Moreover, hypertension is strongly correlated with body mass index (BMI). Al-though the exact causes of hypertension are still un-clear, some of genetic loci were discovered from ge-nome-wide association study (GWAS). Therefore, it is essential to study genetic variation for finding more ge-netic factor affecting hypertension. The purpose of our study is to conduct a CNV association study for hyper-tension-related traits, BP and BMI, in Korean individuals. We identified 2,206 CNV regions from 3,274 commun-ity-based Korean participants using the Affymetrix Ge-nome-Wide Human SNP Array 6.0 platform and per-formed a logistic regression analysis of CNVs with two hypertension-related traits, BP and BMI. Moreover, the 4,692 participants in an independent cohort were se-lected for respective replication analyses. GWAS of CNV identified two loci encompassing previously known hy-pertension-related genes: LPA (lipoprotein) on 6q26, and JAK2 (Janus kinase 2) on 9p24, with suggestive p-val-ues (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 associa-tion with common diseases. This is the first study of CNV association study with BP and BMI in Korean pop-ulation 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