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Objective To investigate the relationship between gene polymorphisms of homocysteine (Hcy), metabolic enzymes methylenetetrahydrofolate reductase MTHFR C677T and chronic pulmonary heart disease (CPHD). Methods The gene polymorphisms of MTHFR C677T were determined by the polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)in CPHD patients (n=120) and healthy control (HC, n=120), and genotyping was carried on. The automatic biochemistry analyzer was used to detect the level of Hcy and other related biochemical indicators. Results There was significant difference in Hcy level between the CPHD group and HC group (P<0.05). The mutation frequencies of CC, CT and TT were 24.17%, 43.33%and 32.50%, 35.00%, 47.50%and 17.50%in the CPHD group and HC group. The mutation frequencies of allele C/T were 45.83%and 54.17%in HC group, and 58.75%and 41.25%in control group. There was significant difference in the overall frequency distribution between the three genotypes (χ2 =8.010, P<0.05). The frequency of T allele was significantly higher in CPHD group than that in control group (χ2=8.025,P<0.05). Conclusion The increased Hcy and its metabolic enzyme MTHFR C677T may be involved in the occurrence and development of CPHD.
ABSTRACT
Objectives To investigate the relationship of methylenetetrahydrofolate reductase (MTHFR) and methioninesynthase reductase (MTRR) with unexplained recurrent spontaneous abortion (URSA). Methods Case control study was used to select 244 patients with URSA (miscarriage group) and 116 normal women (control group) who were admitted to Tianjin Medical University General Hospital and Tianjin Women’s and Children’s Health Center from January 2013 to March 2015. The oral mucosal epithelial cells were extracted using fluorescence quantitative PCR to detect MTHFR gene C677T, A1298C and MTRR gene loci of A66G single nucleotide polymorphisms (SNP). The relationship between folate metabolism related gene polymorphisms of MTHFR and MTRR and URSA was analysed. Results The frequency of C677T genotype MTHFR was significantly higher in URSA group than that in the control group, and the frequency of CT genotype was significantly lower than that of the control group (P<0.05). There was no significant difference in the frequencies of A1298C MTRR and A66G MTHFR between the two groups. The activity of MTHFR, red cell folate and plasma folate levels were significantly lower in URSA group than those of control group. Homocysteine levels were significantly higher in URSA group than those of control group (P<0.05). There were no significant differences in serum folic acid, red cell folate, homocysteine cysteine levels between patients <35 years old and ≥ 35 years old in URSA group. Conclusion C677TMTHFR gene polymorphism is associated with unexplained recurrent spontaneous abortion.
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Objective To investigate the relationship between folate metabolism-related gene polymorphism and fetal congenital defects,and discuss the effect of genetic factors on fetal congenital defects.Methods Retrospective analysis was used to investigate the genotype and gene frequency of 5,1O-methylenetetrahydrofolate reductase (MTHFR) C677T,A1298C gene loci and ethionine synthase reductase (MTRR) A66G gene locus in 132 cases of adverse pregnancy pregnant women (case group) and 150 cases normal pregnant women (control group) at the same period.The statistical differences were analyzed between the levels of their serum folate,vitamin B12 (Vit B12) and homocysteine (HCY).Results In the serum of case group,folate was positively correlated with Vit B12,and was negatively correlated with HCY,only HCY of skeletal system defects(6 cases) was higher (t =3.409,P ＜ 0.05).Comparing genotypes frequency of the MTHFR C677T,A1298C gene loci and MTRR A66G gene locus in case group with control group,the difference above was not statistically significant (P ＞ 0.05).In these three gene loci C/T,A/C and A/G allele frequency with the control group,the difference above was not statistically significant (all P ＞ 0.05).Different genotype combinations of MTHFR C667T and A1298C gene loci in control groups had no statistically different from the control group (P ＞ 0.05),and there was no synergy.Conclusions Maternal folate metabolism-related MTHFR and MTRR genes polymorphisms can affect the metabolic products levels accordingly.However,the correlation between the changes and the genetic mechanism of fetal congenital defects needs more large samples study in depth.
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Objective To evaluate the effects of folic acid supplement on subjects with different 5, 10-methylenetet-rahydrofolate reductase (MTHFR) genotypes. Methods One hundred and eleven healthy women were divided into CC, CT and TT groups according to their MTHFR C677T genotypes. In each group subjects were randomly sub-divided into interven-tion (400 μg/d folic acid supplement) and control (usual diet) groups. The plasma folate, red blood cell (RBC) folate and plasma homocysteine (Hcy) concentration were measured at baseline and two months after intervention. Results The plasma folate was lower and the plasma Hcy was higher in the TT genotype than those in CC or CT genotypes (P＜0.05 or P＜0.01). After two months of intervention, the levels of plasma folate, RBC folate concentration increased while the plasma Hcy concen-tration decreased in all three intervention groups. Although the plasma folate concentration increased the most obvious in TT genotype than that of CC and CT genotypes, P＜0.05), the plasma Hcy concentration decreased the most obvious in TT geno-type than that of CT genotype, P＜0.05). Logistic regression analysis showed that the MTHFR TT genotype was a risk factor of high Hcy concentration, which was 8.078 times compared with that of CC genotype (P＜0.05). Conclusion Folic acid sup-plement can significantly increase plasma folate and red cell folate concentration, and reduce plasma Hcy concentration in all MTHFR genotypes. TT genotype was the most dangerous in disorder of folic metabolic and high Hcy concentration. However, low-dose folic acid supplement cannot reduce the risk of high Hcy concentration.