Abstract

BackgroundLittle is known about the association of the protein phosphatase 1 regulatory subunit 3B gene (PPP1R3B) single nucleotide polymorphisms (SNPs) and serum lipid levels, the risk of coronary artery disease (CAD) and ischemic stroke (IS) in the Chinese populations. This study detected such association in a Southern Chinese Han population.MethodsGenotypes of 4 novel PPP1R3B SNPs (rs12785, rs330910, rs330915 and rs9949) in 1704 Han Chinese (CAD, 556; IS, 531 and control, 617) were determined by the Snapshot technology.ResultsThe rs12785A and rs9949A allele frequency was higher in both CAD/IS patients than in controls. The rs330910T and rs330915T allele frequency was also higher in CAD patients than in controls. The rs330910T allele carriers in controls had lower serum low-density lipoprotein cholesterol (LDL-C) levels than the rs330910T allele non-carriers (P < 0.0014). The rs12785A, rs9949A and rs330910T allele carriers were associated with an increased risk of CAD (P = 0.008–0.004). There was strong linkage disequilibrium among the 4 SNPs in the controls and CAD/IS patients. The T-A-A-G haplotype was associated with a decreased risk of CAD and IS, whereas the A-A-T-A haplotype was associated with an increased risk for IS. Haplotype-environment interactions on the risk of CAD and IS were also observed.ConclusionsSeveral PPP1R3B polymorphisms were associated with serum LDL-C levels, the risk of CAD and IS in the Southern Chinese Han population. But these findings still need to be confirmed in the other populations with larger sample sizes.

Highlights

  • Little is known about the association of the protein phosphatase 1 regulatory subunit 3B gene (PPP1R3B) single nucleotide polymorphisms (SNPs) and serum lipid levels, the risk of coronary artery disease (CAD) and ischemic stroke (IS) in the Chinese populations

  • Two previous genome-wide association studies (GWASes) showed that single nucleotide polymorphisms (SNPs) in the PPP1R3B were associated with plasma lipid levels including high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and total cholesterol (TC) and the risk of CAD [22, 23]

  • The mean levels of Body mass index (BMI), Systolic blood pressure (SBP), pulse pressure (PP), TC, TG and ApoB were higher but the values of HDL-C and LDL-C were lower in CAD patients than in controls (P < 0.05 for all)

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Summary

Introduction

Little is known about the association of the protein phosphatase 1 regulatory subunit 3B gene (PPP1R3B) single nucleotide polymorphisms (SNPs) and serum lipid levels, the risk of coronary artery disease (CAD) and ischemic stroke (IS) in the Chinese populations. This study detected such association in a Southern Chinese Han population. A previous study in the Chinese Han population has showed that three PPP1R3B SNPs were significantly associated with plasma LDL-C (rs2126259, rs9987289 and rs19334) and TC (rs2126259 and rs9987289), and two SNPs with C-reactive protein (CRP; rs189798 and rs330919) but not with plasma lipid levels [24] These findings suggest that the other SNPs in the 3’UTR of PPP1R3B may influence serum lipid levels and the risk of CAD and IS. The purpose of the present study was to detect the association of four novel PPP1R3B SNPs (rs12785, rs330910, rs330915 and rs9949) and their haplotypes with serum lipid levels and the risk of CAD and IS in a Southern Chinese Han population

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