Haplotype analysis of the CYP2J2 gene associated with myocardial infarction in a Chinese Han population

SummaryMatrix metalloproteinase (MMP) 3 plays an important role in the pathogenesis of myocardial infarction (MI). Up to now, there has been conflicting data regarding the possible contribution of the MMP3 -1612 5A/6A promoter polymorphism to MI. In this study, we have investigated the possible association of three polymorphisms (-1612 5A/6A, -376C/G, Glu45Lys) in the MMP3 gene with MI in a Chinese Han population. The polymorphisms were analyzed in 509 patients with MI, and in 518 healthy controls. The frequency of the 5A allele was 14% in the healthy controls, which is less than in Western populations (40%-52%). Logistic regression analyses of individual polymorphisms indicated that individuals carrying the -1612 5A allele had an increased risk of MI (odds ratio [OR] 1.75, 95% confidence interval [CI] 1.28 to 2.40), as did those carrying the -376 G allele (OR 1.78, 95% CI 1.33 to 2.38). The three polymorphisms studied were found to be in strong linkage disequilibria. Haplotype analyses showed that the 5A-G-Lys haplotype (-1612 5A, -376G and 45Lys) was independently associated with susceptibility to MI. Taken together, the effect of the MMP3 polymorphisms studied may be attributable to the -1612 5A/6A polymorphism. We conclude that the MMP3 -1612 5A/6A polymorphism is associated with MI in our population, implying that individuals of the 5A allele carriers have an increased risk of suffering MI.

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The rs3850641 polymorphism of the TNFSF4 gene increases the risk of myocardial infarction in a Chinese Han population

Bioscience Reports ◽

10.1042/bsr20180526 ◽

2018 ◽

Vol 38 (4) ◽

Cited By ~ 2

Author(s):

Changqing Lu ◽

Helei Jia ◽

Aiguo Xu

Keyword(s):

Myocardial Infarction ◽

Case Control Study ◽

Case Control ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population ◽

Flight Mass Spectrometry ◽

Ox40 Ligand ◽

Atherosclerosis Development ◽

Control Study

Tumor necrosis factor superfamily member 4 (TNFSF4), also known as Ox40 ligand (Ox40l), plays an important role in atherosclerosis development. Several studies reported the association between the rs3850641 polymorphism of the TNFSF4 gene and the risk of myocardial infarction (MI). However, the results are inconsistent. In order to explore the relationship between the rs3850641 polymorphism of the TNFSF4 gene and MI, we conducted a case–control study including 454 cases and 512 controls in a Chinese Han population. Genotyping was performed using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The present study found that AA genotype (AA vs. GG: odds ratio (OR) & 95% confidence interval (CI), 2.00(1.04,3.86), P=0.039; AA vs. AG+GG: OR & 95% CI, 1.93(1.00,3.70), P=0.049) or A allele carriers (A vs. G: OR & 95% CI, 1.27(1.00,1.60), P=0.047) of the rs3850641 polymorphism of the TNFSF4 gene increased the risk of MI. In conclusion, this case–control study confirms that the rs3850641 polymorphism of the TNFSF4 gene increases the risk of MI.

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Association of Polymorphisms in X-Ray Repair Cross Complementing 1 Gene and Risk of Esophageal Squamous Cell Carcinoma in a Chinese Population

BioMed Research International ◽

10.1155/2015/509215 ◽

2015 ◽

Vol 2015 ◽

pp. 1-7

Author(s):

Yu-Xia Yun ◽

Li-Ping Dai ◽

Peng Wang ◽

Kai-Juan Wang ◽

Jian-Ying Zhang ◽

...

Keyword(s):

Squamous Cell Carcinoma ◽

Esophageal Squamous Cell Carcinoma ◽

Cell Carcinoma ◽

Squamous Cell ◽

Chinese Population ◽

Haplotype Analysis ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population ◽

X Ray

Objectives. To investigate the association between three single nucleotide polymorphisms (SNPs) in the X-ray repair cross complementing 1 gene (XRCC1) and the risk of esophageal squamous cell carcinoma (ESCC) in Chinese population.Methods. A case-control study including 381 primary ESCC patients recruited from hospital and 432 normal controls matched with patients by age and gender from Chinese Han population was conducted. The genotypes of threeXRCC1polymorphisms at −77T>C (T-77C), codon 194 (Arg194Trp), and codon 399 (Arg399Gln) were studied by means of polymerase chain reaction-restriction fragment length polymorphism techniques (PCR-RFLP). Unconditional logistic regression model and haplotype analysis were used to estimate associations of these three SNPs inXRCC1gene with ESCC risk.Results. Polymorphisms at these three sites inXRCC1gene were not found to be associated with risk for developing ESCC; however the haplotypeCcodon 194Gcodon 399C-77T>Cwas significantly associated with reduced risk of ESCC (OR: 0.62, 95% CI: 0.40–0.96) upon haplotype analysis.Conclusion. These results suggested that the gene-gene interactions might play vital roles in the progression on esophageal cancer in Chinese Han population and it would be necessary to confirm these findings in a large and multiethnic population.

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