KARE Genomewide Association Study of Blood Pressure Using Imputed SNPs.

Hong,  Kyung Won; Lim,  Ji Eun; Kim,  Young Jin; Cho,  Nam H; Shin,  Chol; Oh,  Bermseok

doi:2010.8.3.103

Genomics Inform > Volume 8(3); 2010 > Article

Original Article

Genomics & Informatics 2010;8(3): 103-107.

DOI: https://doi.org/10.5808/gi.2010.8.3.103

KARE Genomewide Association Study of Blood Pressure Using Imputed SNPs.

Kyung Won Hong, Ji Eun Lim, Young Jin Kim, Nam H Cho, Chol Shin, Bermseok Oh

¹Department of Biomedical Engineering, School of Medicine, Kyung Hee University, Seoul 130-701, Korea. ohbs@khu.ac.kr
²Center for Genome Science, National Institute of Health, Seoul, Korea.
³Department of Preventive Medicine, Ajou University School of Medicine, Suwon 443-749, Korea.
⁴Department of Internal Medicine, Korea University Ansan Hospital, Ansan 425-707, Korea.

Abstract

The imputation of untyped SNPs enables researchers to validate association findings across SNP arrays and also enables them to test a large number of SNPs to reveal the fine structure of the association peak, facilitating interpretation of the results and the location of causal polymorphisms. In this study, we applied the imputation method to a genomewide association study and recapitulated the previously associated gene loci of blood pressure traits in Korean cohorts. A total of 1,827,004 SNPs were imputed by the IMPUTE program, and we conducted a genomewide association study for systolic and diastolic blood pressure. While no SNPs passed the Bonferroni correction p-value (p=2.74x10-8 for 1,827,004 SNPs), 12 novel loci for systolic blood pressure and 16 novel loci for diastolic blood pressure were detected by imputed SNPs, with 10-5

Keywords: blood pressure; genomewide association study; Korea Association Resource; imputation; single nucleotide polymorphism