PHACTR1 and SLC22A3 gene polymorphisms are associated with reduced coronary artery disease risk in the male Chinese Han population.

Qingbin Zhao,Baolan Shi,Huiyi Wei,Mengdan Yan,Dandan Liu,Xiyang Zhang,Lei Li,Fengjiao Wang,Yongri Ouyang

doi:10.18632/oncotarget.13506

Abstract

Previous studies showed that PHACTR1 and SLC22A3 are involved in coronary vascular development and are key determinants of cardiovascular disease risk. We conducted a case-control study to examine the effect of SLC22A3 and PHACTR1 single nucleotide polymorphisms (SNPs) on CAD risk among 376 male CAD patients and 388 male healthy controls from China. Eleven SLC22A3 and PHACTR1 SNPs were selected and genotyped using Sequenom Mass-ARRAY technology. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression adjusting for age. The rs9381439 minor allele “A” (OR = 0.72; 95% CI = 0.54–0.96; p = 0.024) in an allelic model was associated with reduced CAD risk, as were the rs2048327 “C/C” (OR = 0.60; 95% CI: 0.37–0.97; p = 0.036) and rs1810126 “T/T” (OR = 0.58; 95% CI: 0.36–0.93; p = 0.024) genotypes. Likewise, the rs9349379 “A/G” genotype in a dominant model (p = 0.041), the rs1810126 “T/C” genotype in additive (p = 0.041) and recessive (p = 0.012) models, and the rs2048327 “C/T” genotype in a recessive model were associated with decreased CAD risk (p = 0.016). These results suggest several PHACTR1 and SLC22A3 polymorphisms are associated with decreased CAD risk in the male Chinese Han population.

Highlights

Coronary artery disease (CAD), including myocardial infarction, angina pectoris and arteriosclerosis of the coronary arteries, is a leading cause of illness, disability and death worldwide, in older people [1,2,3]
Using the χ 2 test, we found that rs9381439 located in PHACTR1 was significantly associated with decreased CAD risk (OR = 0.72; 95% confidence intervals (CIs) = 0.54–0.96; p = 0.024)
In this study we investigated the associations between the 11 single-nucleotide polymorphism (SNP) in SLC22A3 and PHACTR1 and CAD risk in the Chinese Han male population

Summary

Introduction

Coronary artery disease (CAD), including myocardial infarction, angina pectoris and arteriosclerosis of the coronary arteries, is a leading cause of illness, disability and death worldwide, in older people [1,2,3]. The annual mortality rate due to ischemic heart disease is currently 5% among males and 3.65% among females [4]. Several studies have identified gender differences in CAD susceptibility that likely account for the higher mortality rate among males [5, 6]. CAD is a multifactorial disease, and both acquired and inherited components are implicated in its etiology [7]. While many CAD risk factors can be ameliorated through lifestyle changes, such as diet and exercise, one’s genetic make-up and family history of the disease are not modifiable [8, 9]. Understanding the genetic factors that contribute to the development of CAD continues to be a crucial element for improving methods of effective prevention, early diagnosis and therapeutic strategies

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Results

Conclusion