血浆同型半胱氨酸水平与MTHFR基因变异的关联研究
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摘要
目的本研究的目的是探讨高同型半胱氨酸血症和MTHFR基因变异之间的关系。方法本研究随机抽取466例受试者。根据受试者同型半胱氨酸水平,将其分为高同型半胱氨酸(n=206)和正常同型半胱氨酸(n=260)。采用聚合酶链式反应-高分辨溶解曲线进行基因型检测并运用统计学软件处理数据。结果高同型半胱氨酸血症与MTHFR 677T和1298A相关,差异有统计学意义(P<0.01,OR(CI)=1.842(1.418-2.394)>1)。结论本研究证实高同型半胱氨酸血症与MTHFR 677T和1298A基因突变有关。
Objective The aim of this study was to explore the relationship between HHcy and MTHFR gene variation,and whether it was influenced by age and sex in the population.Methods A total of 466 subjects were randomly enrolled in this study.According to homocysteine levels of the subjects,they were divided into hyperhomocysteine(HHcy=206)and normal homocysteine(Hcy=260).Polymerase chain reaction-high resolution dissolution curve(PCR-HRM)was used to genotype testing and processing data by statistical software.Results High plasma homocysteine levels are associated with MTHFR 677 Tand 1298 A,with statistically significant differences(P<0.01,OR(CI)=1.842(1.418-2.394)>1).Conclusion This study confirmed that the high plasma homocysteine levels was linked to the MTHFR 677 Tand 1298 Agene mutation.
Objective The aim of this study was to explore the relationship between HHcy and MTHFR gene variation,and whether it was influenced by age and sex in the population.Methods A total of 466 subjects were randomly enrolled in this study.According to homocysteine levels of the subjects,they were divided into hyperhomocysteine(HHcy=206)and normal homocysteine(Hcy=260).Polymerase chain reaction-high resolution dissolution curve(PCR-HRM)was used to genotype testing and processing data by statistical software.Results High plasma homocysteine levels are associated with MTHFR 677 Tand 1298 A,with statistically significant differences(P<0.01,OR(CI)=1.842(1.418-2.394)>1).Conclusion This study confirmed that the high plasma homocysteine levels was linked to the MTHFR 677 Tand 1298 Agene mutation.
引文
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[5]Markan S,Sachdeva M,Sehrawat BS,et al.MTHFR 677 CT/MTHFR 1298CC genotypes are associated with increased risk of hypertension in Indians[J].Mol Cell Biochem,2007,302:125.
[6]Esfahani ST,Cogger EA,Caudill MA.Heterogeneity in the prevalence of methy-lenetetrahydrofolate reductase gene polymorphisms in women of different ethnic groups[J].J Am Diet Assoc,2003,103:200.
[7]Yang B,Liu Y,Li Y,et al.Geographical distribution of MTHFRC677T,A1298Cand MTRR A66G Gene polymorphisms in China:findings from 15357adults of Han nationality[J].PLoS One,2013,8(3):e57917.
[8]Siva A,De Lange M,Clayton D,et al.The heritability of plasma homocysteine,and the influence of genetic variation in the homocysteine methylation pathway[J].QJM,2007,100(8):495.
[9]Yuan Y,Shao W,Li Y.Associations between C677Tand A1289Cpolymorphisms of MTHFR and susceptibility to rheumatoid arthritis:a systematic review and meta-analysis[J].Rheumatol Int,2017,37:557.
[10]Jiao X,Luo Y,Yang B,et al.The MTHFR C677T mutation is not a risk factor recognized for HBV-related HCC in a population with a high prevalence of this genetic marker[J].Infect Genet Evol,2017,49:66.
[11]Zappacosta B,Graziano M,Persichilli S,et al.5,10-Methylenetetrahydrofolate reductase(MTHFR)C677T and A1298Cpolymorphisms:genotype frequency and association with homocysteine and folate levels in middle-southern Italian adults[J].Cell Biochem Funct,2014,32:1.
[12]Jadeja SD,Mansuri MS,Singh M,et al.Association of elevated homocysteine levels and Methylenetetrahydrofolate reductase(MTHFR)1298A>C polymorphism with Vitiligo susceptibility in Gujarat[J].J Dermatal Sci,2018,17:S0923.
[2]Shakir S,Ali N,Udin Z,et al.Vitamin B6and homocysteine levels in carbamazepine treated epilepsy of Khyber Pakhtunkhwa[J].AfrHealth Sci,2017,17(2):559.
[3]Richard E.Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects[J].J Cell Biochem,2013,114(1):183.
[4]F9dinger M,H9rl WH,Sunder-Plassmann G,et al.Molecular biology of 5,10-methylenetetrahydrofolate reductase[J].J Nephrol,2000,13:20.
[5]Markan S,Sachdeva M,Sehrawat BS,et al.MTHFR 677 CT/MTHFR 1298CC genotypes are associated with increased risk of hypertension in Indians[J].Mol Cell Biochem,2007,302:125.
[6]Esfahani ST,Cogger EA,Caudill MA.Heterogeneity in the prevalence of methy-lenetetrahydrofolate reductase gene polymorphisms in women of different ethnic groups[J].J Am Diet Assoc,2003,103:200.
[7]Yang B,Liu Y,Li Y,et al.Geographical distribution of MTHFRC677T,A1298Cand MTRR A66G Gene polymorphisms in China:findings from 15357adults of Han nationality[J].PLoS One,2013,8(3):e57917.
[8]Siva A,De Lange M,Clayton D,et al.The heritability of plasma homocysteine,and the influence of genetic variation in the homocysteine methylation pathway[J].QJM,2007,100(8):495.
[9]Yuan Y,Shao W,Li Y.Associations between C677Tand A1289Cpolymorphisms of MTHFR and susceptibility to rheumatoid arthritis:a systematic review and meta-analysis[J].Rheumatol Int,2017,37:557.
[10]Jiao X,Luo Y,Yang B,et al.The MTHFR C677T mutation is not a risk factor recognized for HBV-related HCC in a population with a high prevalence of this genetic marker[J].Infect Genet Evol,2017,49:66.
[11]Zappacosta B,Graziano M,Persichilli S,et al.5,10-Methylenetetrahydrofolate reductase(MTHFR)C677T and A1298Cpolymorphisms:genotype frequency and association with homocysteine and folate levels in middle-southern Italian adults[J].Cell Biochem Funct,2014,32:1.
[12]Jadeja SD,Mansuri MS,Singh M,et al.Association of elevated homocysteine levels and Methylenetetrahydrofolate reductase(MTHFR)1298A>C polymorphism with Vitiligo susceptibility in Gujarat[J].J Dermatal Sci,2018,17:S0923.