J Genet Med.  2017 Jun;14(1):8-17. 10.5734/JGM.2017.14.1.8.

A genome-wide association study of the association between single nucleotide polymorphisms and brachial-ankle pulse wave velocity in healthy Koreans

  • 1Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. jhs2003@hanyang.ac.kr
  • 2Department of Biochemistry and Molecular Biology, Kyung Hee University School of Medicine, Seoul, Korea.
  • 3Department of Preventive Medicine, Hanyang University College of Medicine, Seoul, Korea.
  • 4Institute for Health and Society, Hanyang University, Seoul, Korea.
  • 5Department of Preventive Medicine, Chonnam National University Medical School, Gwangju, Korea.
  • 6Department of Preventive Medicine, Keimyung University School of Medicine, Daegu, Korea.
  • 7Department of Preventive Medicine & Institute of Wonkwang Medical Science, Wonkwang University School of Medicine, Iksan, Korea.
  • 8Department of Preventive Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
  • 9Health Promotion Center, Kyungpook National University Hospital, Daegu, Korea.
  • 10Center for Genome Science, National Institute of Health, Osong Health Technology Administration complex, Cheongju, Korea.


Pulse wave velocity (PWV) is an indicator of arterial stiffness, and is considered a marker of vascular damage. However, a genome-wide association study analyzing single nucleotide polymorphisms (SNPs) associated with brachial-ankle PWV (baPWV) has not been conducted in healthy populations. We performed this study to identify SNPs associated with baPWV in healthy populations in Korea.
Genomic SNPs data for 2,407 individuals from three sites were analyzed as part of the Korean Genomic Epidemiologic Study. Without replication samples, we performed multivariable analysis as a post hoc analysis to verify the findings in site adjusted analysis. Healthy subjects aged between 40 and 70 years without self-reported history or diagnosis of hypertension, diabetes, hyperlipidemia, heart disease, cerebrovascular disease and cancer were included. We excluded subjects with a creatinine level >1.4 mg/dL (men) and 1.2 mg/dL (women).
In the site-adjusted association analysis, significant associations (P<5×10⁻⁸) with baPWV were detected for only 5 SNPs with low minor allele frequency. In multivariable analysis adjusted by age, sex, height, body mass index, mean arterial pressure, site, smoking, alcohol, and exercise, 11 SNPs were found to be associated (P<5×10⁻⁸) with baPWV. The 5 SNPs (P<5×10⁻⁸) linked to three genes (OPCML, PRR35 and RAB40C) were common between site-adjusted analysis and multivariable analysis. However, meta-analysis of the result from three sites for the 11 SNPs showed no significant associations.
Using the recent standard for genome-wide association study, we did not find any evidence of significant association signals with baPWV.


Genome-wide association study; Association; Nucleotides; Pulse
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