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

• Xu E
• Shin J
• Lim JE
• Kim MK
• Choi BY
• Shin MH
• Shin DH
• Lee YH
• Chun BY
• Hong KW
• Hwang JY

• KMID: 2386603
• DOI: http://doi.org/10.5734/JGM.2017.14.1.8

Abstract

PURPOSE
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.
MATERIALS AND METHODS
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).
RESULTS
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.
CONCLUSION
Using the recent standard for genome-wide association study, we did not find any evidence of significant association signals with baPWV.

Keyword

Genome-wide association study; Association; Nucleotides; Pulse

MeSH Terms

Arterial Pressure
Body Height
Cerebrovascular Disorders
Creatinine
Diagnosis
Epidemiologic Studies
Gene Frequency
Genome-Wide Association Study*
Healthy Volunteers
Heart Diseases
Hyperlipidemias
Hypertension
Korea
Nucleotides
Polymorphism, Single Nucleotide*
Pulse Wave Analysis*
Smoke
Smoking
Vascular Stiffness
Creatinine
Nucleotides
Smoke