Study on distribution of MTHFR and MTRR gene polymorphisms and the correlation with serum homocysteine levels
Objective To analyze the distribution characteristics of methylenetetrahydrofolate reductase(MTHFR)at the C677T,A1298C sites and methionine synthase reductase(MTRR)at the A66G site gene polymorphism in women of childbering age in Guangyuan area,and to investigate the effects of different genotypes on serum homocysteine levels were analyzed to provide clinical guidance for prenatal and postnatal care in Guangyuan area.Methods A total of 4 438 women of childbearing age in Han population who were treated in Guangyuan Central Hospital from January 3,2020 to February 9,2022 and underwent the testing of genetic polymorphisms of MTHFR and MTRR were enrolled.According to the principle of informed consent,venous whole blood was obtained from patients,and the ligation sequencing was used to detect patients'genetic polymorphisms of MTHFR and MTRR,and serum homocysteine(Hcy)was measured by enzyme circulation.Groups were grouped by gene polymorphism.The The Hardy weinberg equilibrium analysis of gene polymor-phisms was performed by Haplo View4.2 software,and the linkage disequilibrium analysis(LD)between MTHFR C677T and MTHFR A1298C was performed by SHEsis online software(http://analysis.bio-x.cn/SHEsisMain.htm).IBM SPSS 25.0 statistical software was used for data analysis.Measurement data were expressed as(X)±S,and t-tests were used for comparison between two groups,while analysis of variance was used for comparison among multiple groups.Count data were expressed as n(％),and chi-square tests were used for comparison between groups.Results(1)The genotype and allele frequencies of MTHFR C677T in Han population of Guangyuan area were 33.39％(CC,1 482/4 438),48.20％(CT,2 139/4 438),and 18.41％(TT,817/4 438),57.49％(C)and 42.51％(T),respectively.The genotype and allele frequencies of MTHFR A1298C were 65.19％(AA,2 893/4 438),31.25％(AC,1 387/4 438),3.56％(CC,158/4 438),80.81％(A)and 19.19％(C),respectively.The genotype and allele frequencies of MTRR A66G were 54.62％(AA,2 424/4 438),38.64％(AG,1 715/4 438),6.74％(GG,299/4 438),73.94％(A)and 26.06％(G),respectively.(2)There were eight combinations of two-site linkage between MTHFR C677T and MTHFR A1298C,the highest frequency was CT/AA(32.18％),the lowest frequency was TT/AC(0.11％),there was no TT/CC combination,and the two-site combination existed completely linkage disequilibrium(D'=0.969,r2=0.165).(3)There were statistically significant differences for genotype frequencies of MTHFR C677T site between Guangyuan and Xinjiang,Hebei,Shanxi,Qinghai,Gansu,Shandong,Henan,Hubei,Chongqin,Guizhou,Yunnan and Fujian(P＜0.05),and there was no statistical difference with Tibet(P＞0.05).There were significant differences in the distribu-tions of MTHFR A1298C genotypes between Guangyuan and Xinjiang,Hebei,Shandong,Henan(P＜0.05),there was no statistical difference with Gansu,Tibet and Guizhou(P＞0.05).As for MTRR A66G genotypes,there was no statis-tical significance with Xinjiang,Hebei,Gansu,Shandong,Henan,Tibet,Guizhou(P＞0.05).(4)The serum Hcy con-centrations were influenced by genetic variants(MTHFR C677T and MTHFR A1298C)(P＜0.05).The serum Hcy level of 677 TT genotype was higher than that of CC and CT genotypes;the serum Hcy level of 1298 AA genotype was higher than that of AC and CC genotype which may show a protective effect against hyperhomocystinemia risk.While there was no significant difference in serum Hey levels among MTRR A66G genotypes(P＞0.05).Conclusions This study obtained the population genetic characteristics of gene polymorphisms of MTHFR and MTRR in Guangyuan area,and the correlation between MTHFR gene polymorphisms and serum Hey levels was also analyzed,which may be helpful for the uptake folic acid during pregnancy and perinatal management of Han women of childbearing age in Guangyuan area.
NETL
NSTL
万方数据
