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Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts

Journal of Human Hypertension volume 24, pages 367–372 (2010)Cite this article

Abstract

Blood pressure, one of the important vital signs, is affected by multiple genetic and environmental factors. Recently, several genome-wide association (GWA) studies have successfully identified genetic factors that influence blood pressure and hypertension risk. In this study, we report results of the Korean Association REsource (KARE, 8842 subjects) GWA study on blood pressure and hypertension risk. In all, 10 single-nucleotide polymorphisms (SNPs) that showed significant association with hypertension were further analysed for replication associations in the Health2 project (7861 subjects). Among these 10 SNPs, 3 were replicated in the Health2 cohort for an association with systolic or diastolic blood pressure. The most significant SNP (rs17249754 located in ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1)) has been previously reported, and the other two SNPs are rs1378942 in the c-src tyrosine kinase (CSK) gene and rs12945290 in the arylsulphatase G (ARSG) gene. An additional hypertension case–control study confirmed that rs17249754 (in ATP2B1) increases hypertension risk in both the KARE and Health2 (meta-analysis, P-value=4.25 × 10−9) cohorts. One more SNP, rs995322, located in the CUB and Sushi multiple domains 1 (CSMD1), is also associated with increased risk of hypertension (meta-analysis, P-value=1.00 × 10−4). Despite the difficulty of obtaining replication results for a complex trait genetic association between blood pressure and hypertension, we were able to identify consistent genetic factors in both the Korean cohorts in ATP2B1, CSK, ARSG and CSMD1 genes.

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Acknowledgements

This study was supported by a grant from the Kyung Hee University to B Oh in 2009 (KHU-20090597).

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Author notes

  1. Y S Cho and B Oh: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Biomedical Engineering, School of Medicine, Kyung Hee University, Seoul, Republic of Korea

    K-W Hong, H-S Jin, J-E Lim, H K Park & B Oh

  2. Center for Genome Science, National Institute of Health, Seoul, Republic of Korea

    M J Go, J-Y Lee, B G Han & Y S Cho

  3. Graduate School of Informatics and Biotechnology, Hankyong National University, Ansung, Republic of Korea

    S-Y Hwang

  4. Department of Internal Medicine, Kyung Hee University East-West Neo Medical Center, Seoul, Republic of Korea

    S-H Lee

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  1. K-W Hong
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Correspondence to Y S Cho or B Oh.

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Hong, KW., Go, M., Jin, HS. et al. Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts. J Hum Hypertens 24, 367–372 (2010). https://doi.org/10.1038/jhh.2009.86

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