Abstract

Objectives: Previous research discovered single nucleotide polymorphism (rs2383206 and rs2383207) on chromosome 9p21 that is associated with coronary heart disease in a Chinese population. However, few data are available on the association of other single nucleotide polymorphism with cardiovascular disease in a Chinese population. This study aimed to determine whether the single nucleotide polymorphisms on chromosome 1p13, 1p32, 9p21 and 19p13 were associated with coronary artery disease in a Chinese population. Methods: We conducted a case-control study. Cases were coronary artery disease (n=670) between 2010 and 2015. Controls (n=1340) were randomly selected and frequency matched to cases on age and gender. All of the participants were selected to study 18 single nucleotides using allele-specific real-time polymerase chain reaction method. Results: Four single nucleotides in 9p21, two single nucleotides in 1p13 and one single nucleotide in 1p32 were associated with cardiovascular disease risk in Chinese population (Global P value for multiple logistic regression, <0.0001, respectively). rs10757274 showing the strongest association with cardiovascular disease. GG carriers of four SNPs (rs10757274, rs2383206, rs10757278 and rs1333049) in 9p21 had higher risk (Odds ratio=1.40, 95% Confidence interval: 1.10-1.79; Odds ratio=1.33, 95% Confidence interval: 1.04-1.69; Odds ratio=1.35, 95% Confidence interval: 1.07-1.72; Odds ratio=1.34, 95% Confidence interval: 1.06-1.71). Conclusion: rs10757274, rs2383206, rs10757278 in 9p21, rs562556 in 1p32, and rs646776 in 1p13 may serve as a novel genetic marker for the risk of significant cardiovascular disease in Chinese Han population.

Highlights

  • Cardiovascular disease (CVD) is the leading cause of death and disability-adjusted life-years worldwide, with increasing incidence and prevalence in low and middle income countries [1]

  • We examined the association of common genetic variation in 1p32 near PCSK9, 1p13 near CELSR2-PSRC1-SORT1, 9p21 near CDKN2A, CDKN2B, and 19p13 near LDLR with risk of incident acute myocardial infarction in a population-based case-control study

  • The levels of body mass index (BMI), waist-to-hit ratio (WHR), ApoB, systolic blood pressure, and diastolic blood pressure and the percentages of general stress were higher in coronary artery disease (CAD) group than control group (P

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Summary

Introduction

Cardiovascular disease (CVD) is the leading cause of death and disability-adjusted life-years worldwide, with increasing incidence and prevalence in low and middle income countries [1]. Non-modifiable risk factors include increasing age, male sex, and heredity. In Chinese Han population few studies have simultaneously explored the relationship of these and other genes on risk of coronary artery disease (CAD). Investigation of gene-environment interactions are necessary to further our understanding of the underlying biology and pathophysiology of the disease, and could potentially be useful in improving cardiovascular risk stratification and thereby reducing clinical events [9,10,11]. We sought to investigate this further by first, exploring the risk genes in Chinese Han population and assessing whether the relationships between risk genes and CAD, and second, identifying some genetic and other risk factors interactions and comparing the variations in risk genes and CAD relationships between different stratification

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