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Background: Rs1333040 is the single-nucleotide polymorphisms (SNP) related with coronary heart disease (CHD). The aim of the present study is to examine the association between rs1333040 polymorphism genotypes and CHD and to further explore the molecular mechanism in Chinese population., Methods: A case-control study was used in this study, including 500 CHD patients and 500 control subjects. CHD patients and controls were distinguished by coronary angiography. Genotypes of rs1333040 were determined on the Agena MassARRAY system. Statistical analysis was conducted by SPSS (Ver 16.0) and plink (Ver. 1.07, Shaun Purcell)., Results: Fisher's exact test by plink indicated a significant difference in the allele distribution between cases and controls, the allele T may be associated with a higher risk of CHD ( p  = 0.012, odds ratio (OR) = 1.258). The serum levels of low-density lipoprotein cholesterol (LDL-C) ( p  = 0.029) and Gensini score ( p  = 0.008) distributed differently in patients with various alleles. In the recessive model, the levels of high-density lipoprotein (HDL) and apolipoprotein A (ApoA) were higher in the TC + CC genotype than in the TT genotype. The TC + TT genotype was found to be risk factors against CHD in a dominant model (OR = 1.278, p  = 0.014). The TC + TT genotype along with multiple risk factors significantly positively correlated with the risk of CHD., Conclusions: The present study investigates the association between the rs1333040 polymorphism genotypes and CHD. The T allele of rs1333040 is the susceptibility site of CHD. The interaction between SNP and various risk factors plays an important role in the development of CHD.

The single nucleotide polymorphisms (SNPs) related to both coronary heart disease (CHD) and ischemic stroke (IS) in Chinese individuals have not been identified definitely. This study was developed to evaluate the genetic susceptibility to CHD and IS on the chromosome 9p21 and the adenosine triphosphate (ATP)-binding cassette transporter A1 genes (ABCA1) in a Chinese Han population. Genotypes of the rs1333040, rs1333042, rs4977574, rs2066715 and rs2740483 SNPs were determined in 1134 unrelated patients (CHD, 565 and IS, 569) and 541 controls. The frequencies of the rs4977574 genotypes and alleles between CHD and control groups, and the rs2740483 genotypes and alleles between IS and control groups were different (p = 0.006-0.001). The subjects with rs1333042GG genotype and the carriers of the rs4977574G allele were associated with increased risk of CHD. The carriers of the rs4977574G allele were associated with increased risk of IS. However, the carriers of the rs2740483C allele had lower risk of IS than the non-carriers of the rs2740483C allele after controlling for potential confounders. The rs4977574GG-age (>60 year) interaction increased the risk of CHD (p = 0.022), whereas the rs2740483CG/CC-body mass index (>24 kg/m²) interaction decreased the risk of IS (p = 0.035). The interactions of rs1333040-rs1333042 on the risk of CHD and IS were relatively strong, whereas the interactions of rs1333040-rs1333042-rs2066715 and rs1333040-rs1333042-rs2066715-rs2740483 on the risk of CHD, and rs1333040-rs1333042-rs4977574 and rs1333040-rs1333042-rs4977574-rs2740483 on the risk of IS were relatively weak. These findings suggest that some common variants on the chromosome 9p21 and ABCA1 and their interactions may significantly modify the risk of CHD and IS independent of effects on serum lipid levels. [ABSTRACT FROM AUTHOR]

Background: Several studies have demonstrated that variants on chromosome 9p21 confer susceptibility to ischemic stroke (IS) disease. But, the results of variants' roles in Chinese IS population are blank or inconsistent., Methods: We performed a case-control analysis in 116 patients with IS and 118 non-IS controls of Han background to determine whether 4 single nucleotide polymorphisms were associated with IS. DNA was extracted from saliva using a magnetic nanoparticles-based method., Results: After we adjusted for clinical parameters, we found that the rs10757278-GG genotype conveyed 1.88-fold (95% confidence interval [CI], 1.1-3.1; P = .015), the rs1537378-C allele conveyed 2.0-fold (95% CI, 1.2-3.5; P = .008), and the rs1333047-TT genotype conveyed 1.64-fold (95% CI, 1.02-2.6; P = .041) increased risk of IS, respectively. In addition, there is a significant difference of the lipids level between GG genotype compared with that of AA genotype in rs10757278 (P < .05)., Conclusions: This study is the first one to demonstrate that the rs10757278-GG genotype, the rs1537378-C allele, and rs1333047-TT genotype are associated with IS in Chinese Han populations. More importantly, the variant of rs10757278 may have different degrees of influence on lipids level., (Copyright © 2015 National Stroke Association. Published by Elsevier Inc. All rights reserved.)