Correlation between the gene polymorphism of homocysteine metabolic enzyme cystathionine β-synthase, N5,10-methylenetetrahydrofolate reductase and chronic pulmonary heart disease / 新乡医学院学报

ABSTRACT

Objective To investigate the correlation between the gene polymorphism of homocysteine metabolic enzyme cystathionine β-synthase(CBS) 844ins68,N5,10-methylenetetrahydrofolate reductase(MTHFR) C677T and chronic pulmonary heart disease(CPHD).Methods A total of 230 patients with CPHD in observation group were selected from January 2014 to November 2016 in the Second People's Hospital of Xinxiang City,and 235 healthy subjects in healthy control group were selected at the same time.The lung function test was performed with lung function instrument,and the percentage of the forced expiratory volume in one second to predicted value(FEV1％ pred) and the forced expiratory volume in one second to forced vital capacity(FEV1％) value were recorded in the two groups.The fasting ulnar venous blood was collected from the patients in the observation group on the next morning after hospitalization and the subjects in the control group on the morning of health examination.The levels of plasma homocysteine (Hcy),fasting blood glucose (FBG),triacylglycerol (TG),total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) were detected.The DNA was extracted from the whole blood cells.The CBS 844ins68 polymorphism was detected by polymerase chain reaction genotyping.The MTHFR C677T polymorphism was detected by restriction fragment length polymorphism polynerase chain reaction.Results There was no significant difference in the FBG level between the two groups (P ＞ 0.05).The levels of Hcy,TG,TC and LDL-C in the observation group were significantly higher than those in the healthy control group (P ＜ 0.05),and the FEV1 and FEV1％ pred were significantly lower than those in the healthy control group (P ＜ 0.05).There were two genotypes of CBS 844ins68 in the two groups.The genotype frequencie of DD and DI in the observation group was 91.74％ and 8.26％,and the allele frequency of D and I was 95.87％ and 4.13％ respectively.The genotype frequency of DD and DI in the healthy control group was 94.04％ and 5.96％,and the allele frequency of D and I was 97.02％ and 2.98％ respectively.There was no significant difference in genotype and allele frequency distribution between the two groups (x2 =0.935,0.901;P ＞ 0.05).Three genotypes of MTHFRC677T were detected after enzyme digestion in the two groups.The genotype frequency of CC,CT and TT in the healthy control group was 27.66％,48.94％ and 23.40％;and the allele frequency of C and T was 52.13％ and 47.87％ respectively.The frequency of TT genotype and T allele in the observation group was significantly higher than that in the healthy control group (x2 =7.730,7.326;P ＜ 0.05).Conclusions Hcy level increasing may be a risk factor for CPHD.The polymorphisms of CBS 844ins68 gene may be unrelated to the occurrence of CPHD.The polymorphism of the MTHFR C677T gene may contribute to CPHD by affecting Hcy level.The T allele of MTHFR C677T may be a risk factor for CPHD,and the MTHFRC677T gene may be a genetic predisposition to CPHD.