Objective Chronic cardiovascular diseases induced by long-term poor blood glucose control are the main cause of death in patients with type 2 diabetes mellitus(T2DM).Previous researches report that methylenetetrahydro...Objective Chronic cardiovascular diseases induced by long-term poor blood glucose control are the main cause of death in patients with type 2 diabetes mellitus(T2DM).Previous researches report that methylenetetrahydrofolate reductase gene(MTHFR)polymorphisms might influence the occurrence of coronary heart disease(CHD)in T2DM patients.The purpose of this study was to evaluate whether MTHFR C677T and A1298C mutations are associated with the risk of CHD inT2DM patients.Methods A total of 197 subjects with T2DM were studied,of which 95 patients with CHD.The genotypes of MTHFR C677T and A1298C were analyzed by using dideoxy chain-termination method,and compared between patients with CHD and those without CHD.Results We found that the frequency of the 677T allele was significantly higher in T2DM patients with CHD than those without CHD(P=0.011).However,there was no significant difference in any of the examined haplotypes between T2DM patients with and without CHD.Furthermore,the 677T allele was associated with a higher risk of CHD development in diabetic patients with lower homocysteine(Hey)levels(≤15μmol/L)(P=0.006),while no effect of MTHFR gene polymorphism on the incidence of CHD was found in patients with higher Hey levels(>15 μmol/L)(P=0.491).Conclusion The MTHFR C677T gene polymorphism is associated with the risk of CHD of diabetic patients and could be used as an effective marker for CHD in Chinese diabetic populations with normal Hey levels.展开更多
Objectives The association of methylenetetrahy-drofolate reductase(MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics.Bai Ku Yao is an isolated subgroup of the Yao minority in ...Objectives The association of methylenetetrahy-drofolate reductase(MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics.Bai Ku Yao is an isolated subgroup of the Yao minority in China. The aim of the present study was to eveluate the association of MTHFR C677Tpolymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 780 subjects of Bai Ku Yao and 686 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the MTHFR C677T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing.Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol (HDL-C),low-density lipoprotein cholesterol(LDL-C), apolipoprotein(Apo) AI and ApoB were lower in Bai Ku Yao than in Han(P【0.05-0.001).The frequency of C and T alleles was 77.4%and 22.6%in Bai Ku Yao,and 60.9%and 39.1%in Han(P【0.001);respectively.The frequency of CC,CT and TT genotypes was 58.7%,37.3%and 4.0%in Bai Ku Yao,and 32.6%,56.4%and 11.0%in Han(P【 0.001);respectively.The levels of TC and LDL-C in both ethnic groups were significant differences among the three genotypes(P【0.05-0.01).The T allele carriers had higher serum TC and LDL-C levels than the T allele noncarriers. The levels of ApoB in Han were significant differences among the three genotypes(P【0.05).The T allele carriers had higher serum ApoB levels as compared with the T allele noncarriers. The levels of TC,TG and LDL-C in Bai Ku Yao were correlated with genotypes(P【0.05-0.001),whereas the levels of LDL-C in Han were associated with genotypes(P【 0.001).Serum lipid parameters were also correlated with sex, age,body massindex,alcohol consumption,cigarette smoking, and blood pressure in the both ethnic groups.Conclusions The differences in serum TC,TG,LDL-C and ApoB levels between the two ethnic groups might partly result from different genotypic and allelic frequencies of the MTHFR C677Tor differentMTHFR gene-enviromental interactions.展开更多
The methylenetetrahydrofolate reductase(MTHFR)genotypes 677CT and 677TT are associated with elevated serum homocysteine(Hcy)levels by means of lowering the activity of MTHFR,and the increase in serum Hcy may be linked...The methylenetetrahydrofolate reductase(MTHFR)genotypes 677CT and 677TT are associated with elevated serum homocysteine(Hcy)levels by means of lowering the activity of MTHFR,and the increase in serum Hcy may be linked to increased susceptibility to nonalcoholic fatty liver disease(NAFLD).However,there are contradictory reports of the relationship among the MTHFR 677CT gene polymorphism,Hcy,and NAFLD.Therefore,the aim of this study was to identify potential associations and interactions of either Hcy levels or the MTHFR 677CT gene polymorphism with the susceptibility to NAFLD in a Chinese population.The association between the MTHFR 677 CT gene polymorphism and Hcy levels was determined in 243 subjects with NAFLD and 388 healthy subjects without NAFLD using polymerase chain reactionrestriction fragment length polymorphism analysis and high-performance liquid chromatography.In subjects with NAFLD,there was no statistical difference in the genotypic and allelic frequencies of the MTHFR 677 CT gene polymorphism,while serum Hcy levels were significantly higher in subjects with NAFLD.Furthermore,these results strongly suggest that the MTHFR 677CT gene polymorphism and NAFLD have a potential synergistic effect on Hcy elevation,although the MTHFR 677CT gene polymorphism was not correlated with NAFLD in a Chinese population.展开更多
Background:Recent studies identifying methylenetetrahydrofolate reductase(MTHFR)polymorphisms associated with breast cancer(BC),ovarian cancer(OC),cervical cancer,and endometrial cancer(EC)have reported conflicting re...Background:Recent studies identifying methylenetetrahydrofolate reductase(MTHFR)polymorphisms associated with breast cancer(BC),ovarian cancer(OC),cervical cancer,and endometrial cancer(EC)have reported conflicting results and been underpowered.To clarify the correlation betweenMTHFR mutations and these common female malignancies,we conducted a comprehensive meta-analysis incorporating all eligible publications.Methods:Relevant reports published before January 20,2020,were retrieved from PubMed,Embase,the Cochrane Library,and the China National Knowledge Infrastructure databases.The odds ratio and 95% confidence interval summaries for theMTHFR 677C/T and 1298A/C polymorphisms in BC,OC,cervical cancer,and EC were estimated.Results:A total of 171 studies comprising 56,675 cancer cases and 67,559 controls were included.The results showed a markedly elevated risk of cancer susceptibility related toMTHFR 677C/T based on all genetic models.Similarly,we identified a significant correlation between 1298A/C mutation and cancer risk based on overall comparisons among all models,except the heterozygous model.Moreover,subgroup analysis by cancer type revealed a significantly increased risk of BC associated with 677C/T in the five models and of cervical cancer associated with 1298A/C in some models.Based on ethnicity,significant associations were observed between Asian,African,and mixed populations for 677C/T and the Asian population for 1298A/C.With regard to the sample type used for analysis,we detected a positive association between using blood as the DNA source and cancer risk for 677C/T in all genetic models and for 1298A/C in some genetic models.Further stratification of the results revealed that a notably increased risk was associated with the use of polymerase chain reaction-restriction fragment-length polymorphism or TaqMan as the genotyping method,as well as with the use of population-or hospital-based groups as the controls for 677C/T and 1298A/C,respectively.Conclusion:This meta-analysis suggests thatMTHFR 677C/T and 1298A/C polymorphisms correlate with the risk of common gynecological cancers,with these findings potentially applicable for overall comparisons of related data.展开更多
Background:There are some risk factors being more vulnerable to Lemierre's syndrome such as a hypercoagulable state.Methods:We report a rare case of Lemierre's syndrome with ethmoid and maxillary sinusitis,bil...Background:There are some risk factors being more vulnerable to Lemierre's syndrome such as a hypercoagulable state.Methods:We report a rare case of Lemierre's syndrome with ethmoid and maxillary sinusitis,bilateral mastoiditis,and sigmoid sinus thrombosis.Results:Genetic study revealed a double heterozygote status in the methylenetetrahydrofolate reductase gene including C677T and A1298C.Conclusion:It is suggested to screen patients with Lemierre's syndrome for a hypercoagulable state to consider anticoagulant therapy.展开更多
Genetic polymorphism has a vital role in the pathogenesis and development of myocardial infarction(MI).Single nucleotide polymorphism at any one of the amino acid sequences can result in a diseased state.A single gene...Genetic polymorphism has a vital role in the pathogenesis and development of myocardial infarction(MI).Single nucleotide polymorphism at any one of the amino acid sequences can result in a diseased state.A single gene can exhibit genetic polymorphism at more than one position giving rise to different variants.Genetic polymorphism of angiotensinogen(AGT)M235T,AGT T174M,and angiotensin-1-converting enzyme(ACE)I/D,endothelial nitric oxide synthase(eNOS),and methylenetetrahydrofolate reductase(MTHFR)can be a risk factor for MI.However,it is important to study the prevalence of genetic polymorphisms of these genes among different populations.MI is influenced by genetic polymorphism of various genes,including AGT,ACE,eNOS,MTHFR,etc.However,the association of genetic polymorphism of these genes varies among different populations,but different ethnic groups could show contradictory results.These genes have shown a positive association with risks of MI in some populations,whereas the results have not been consistent with every ethnic group.In this article,we have summarized the genetic variations in the aforementioned genes and their association with MI.展开更多
BACKGROUND:Cerebral venous thrombosis(CVT) is a rare disease and it has different etiologies.Inherited or acquired prothrombotic state plays a key role in the development of CVT.METHODS:A 28-year-old man who presented...BACKGROUND:Cerebral venous thrombosis(CVT) is a rare disease and it has different etiologies.Inherited or acquired prothrombotic state plays a key role in the development of CVT.METHODS:A 28-year-old man who presented to our emergency department with persistent headache and accompanied by complaints of nausea and vomiting over a week.Neurologic examination revealed bilateral papilledema.Brain computed tomography showed a hyperdense area on the posterior part of the occipital lobe.Brain magnetic resonance imaging and magnetic resonance venography revealed thrombosis of CVT.Homozygous mutations were found for methylenetetrahydrofolate reductase(MTHFR).MTHFR CG677 T gene mutation and blood tests showed elevated homocysteine levels on the etiological screening.There was no other etiology for CVT.RESULTS:Headache and other complaints were improved after treatment of heparin,warfarin,and vitamin B12.No recurrence of symptoms was observed upon outpatient follow-up.CONCLUSION:Since CVT is an important cause of headache,we recommend etiology screening for patients who present with CVT for MTHFR gene mutations and family counseling should be provided.展开更多
<b><span style="font-family:;" "="">Background:</span></b><span style="font-family:;" "=""> As C677T mutation, A1298C mutation in methyle...<b><span style="font-family:;" "="">Background:</span></b><span style="font-family:;" "=""> As C677T mutation, A1298C mutation in methylene tetrahydrofolate reductase (MTHFR) gene results in a decreased MTHFR activity but </span><span style="font-family:;" "="">to</span><span style="font-family:;" "=""> a less extent, it is known as a risk factor of predisposition to human neural tube defects (NTDs), in some populations. Our objective was therefore to study, for the first time in Algerian population, if A1298C polymorphism confer</span><span style="font-family:;" "="">s </span><span style="font-family:;" "="">risk for the occurrence of this abnormality. We have examined the distribution of the genotype and the allele frequencies of A1298C mutation, and also their influence on plasma homocysteine (Hcy) concentration. <b>Patients and Methods:</b> We studied this polymorphism in 38 mothers of NTD cases and 67 control individuals of an eastern Algerian population. The muta<span>tion was determined by polymerase chain reaction</span></span><span style="font-family:;" "="">-</span><span style="font-family:;" "="">restriction fragm</span><span style="font-family:;" "="">ent length polymorphism analysis (PCR/RFLP). Plasma homocysteine concentration was analyzed using an automated chemiluminescence method. <b>Results:</b> No signi?cant association could be observed between allele and genotypes frequencies of A1298C MTHFR gene polymorphism and NTDs risk. However, we could observe that A1298C polymorphism affects homocysteine metabolism in mothers of NTD cases leading to homocysteine concentration values higher in AA genotype and lower in AC/CC genotypes (15.29</span><span style="font-family:;" "=""> </span><span style="font-family:;" "="">±</span><span style="font-family:;" "=""> </span><span style="font-family:;" "="">11.8 μmol/l <span>vs.<i> </i></span>8.63</span><span style="font-family:;" "=""> </span><span style="font-family:;" "="">±</span><span style="font-family:;" "=""> </span><span style="font-family:;" "="">3.83 μmol/l, <i>p</i> < 0.05). <b>Conclusion:</b> Data indicate that A1298C MTHFR gene polymorphism might be a risk factor by affecting homocysteine metabolism in mothers of Algerian children with NTDs.</span>展开更多
Genetic risk factors have been shown to contribute to the development of sexual dysfunction.However,the role of methylenetetrahydrofolate reductase(MTHFR)gene variants in the risk of erectile dysfunction(ED)remains un...Genetic risk factors have been shown to contribute to the development of sexual dysfunction.However,the role of methylenetetrahydrofolate reductase(MTHFR)gene variants in the risk of erectile dysfunction(ED)remains unclear.In this study,we recruited 1254 participants who underwent ED assessed by the International Index of Erectile Function-5.The MTHFR c.677C>T variant was also measured by fluorescence polymerase chain reaction(PCR).No significant difference in the genotypic frequency of the MTHFR C677T polymorphism(CC,CT,and TT)was observed between men from the ED and non-ED groups.In addition,on binary logistic regression analysis,both crude and adjusted models showed that the risk of ED was not significantly associated with the C677T polymorphism.Interestingly,a significantly higher frequency of the 677TT polymorphism was found in severe and moderate ED(P=O.02).The positive correlation between the MTHFR 677TT polymorphism and severe ED was confirmed by logistic regression analysis,even after adjusting for potential confounders(odds ratio[OR]=2.46,95%confidence interval[CI]:1.15-5.50,P=0.02).These findings suggest a positive correlation between the MTHFR 677TT polymorphism and the risk of severe ED.Identification of MTHFR gene polymorphisms may provide complementary information for ED patients during routineclinicaldiagnosis.展开更多
Objective:To investigate the effect of enalapril on plasma homocysteine(Hcy) levels and the association of methylenetetrahydrofolate reductase(MTHFR) C677T polymorphism with the changes of Hcy levels in response to en...Objective:To investigate the effect of enalapril on plasma homocysteine(Hcy) levels and the association of methylenetetrahydrofolate reductase(MTHFR) C677T polymorphism with the changes of Hcy levels in response to enalapril among patients with essential hypertension.Methods:A total of 130 patients with mild-to-moderate essential hypertension were enrolled and enalapril was orally administered at a dose of 10 mg/d for eight weeks.Plasma Hcy levels were measured by denaturing high-performance liquid chromatography(DHPLC) at baseline and after eight weeks of treatment.Genotyping of MTHFR C677T polymorphism was performed by TaqMan probe technique.Results:Compared with baseline,plasma Hcy levels did not change significantly after eight weeks(P=0.81).Stratified by baseline Hcy levels,a significant increase in plasma Hcy levels(P=0.02) among those with Hcy <10 μmol/L was observed,in contrast to no significant changes in plasma Hcy levels(P=0.54) among those with Hcy ≥10 μmol/L.No significant association was observed between MTHFR C677T polymorphism and changes in Hcy levels in response to enalapril.Conclusions:Enalapril may cause an increase in plasma Hcy levels among the hypertensives with low baseline Hcy levels.There was no significant association between MTHFR C677T genotypes and changes in Hcy levels in response to enalapril among subjects with essential hypertension.展开更多
基金the National Key Development Plan for Precision Medicine Research(project number:2017YFC0910004,running period:2018/03-2020/12)Jinan Science Project(project number:201602171,running period:2016/01-2018/12).
文摘Objective Chronic cardiovascular diseases induced by long-term poor blood glucose control are the main cause of death in patients with type 2 diabetes mellitus(T2DM).Previous researches report that methylenetetrahydrofolate reductase gene(MTHFR)polymorphisms might influence the occurrence of coronary heart disease(CHD)in T2DM patients.The purpose of this study was to evaluate whether MTHFR C677T and A1298C mutations are associated with the risk of CHD inT2DM patients.Methods A total of 197 subjects with T2DM were studied,of which 95 patients with CHD.The genotypes of MTHFR C677T and A1298C were analyzed by using dideoxy chain-termination method,and compared between patients with CHD and those without CHD.Results We found that the frequency of the 677T allele was significantly higher in T2DM patients with CHD than those without CHD(P=0.011).However,there was no significant difference in any of the examined haplotypes between T2DM patients with and without CHD.Furthermore,the 677T allele was associated with a higher risk of CHD development in diabetic patients with lower homocysteine(Hey)levels(≤15μmol/L)(P=0.006),while no effect of MTHFR gene polymorphism on the incidence of CHD was found in patients with higher Hey levels(>15 μmol/L)(P=0.491).Conclusion The MTHFR C677T gene polymorphism is associated with the risk of CHD of diabetic patients and could be used as an effective marker for CHD in Chinese diabetic populations with normal Hey levels.
文摘Objectives The association of methylenetetrahy-drofolate reductase(MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics.Bai Ku Yao is an isolated subgroup of the Yao minority in China. The aim of the present study was to eveluate the association of MTHFR C677Tpolymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 780 subjects of Bai Ku Yao and 686 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the MTHFR C677T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing.Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol (HDL-C),low-density lipoprotein cholesterol(LDL-C), apolipoprotein(Apo) AI and ApoB were lower in Bai Ku Yao than in Han(P【0.05-0.001).The frequency of C and T alleles was 77.4%and 22.6%in Bai Ku Yao,and 60.9%and 39.1%in Han(P【0.001);respectively.The frequency of CC,CT and TT genotypes was 58.7%,37.3%and 4.0%in Bai Ku Yao,and 32.6%,56.4%and 11.0%in Han(P【 0.001);respectively.The levels of TC and LDL-C in both ethnic groups were significant differences among the three genotypes(P【0.05-0.01).The T allele carriers had higher serum TC and LDL-C levels than the T allele noncarriers. The levels of ApoB in Han were significant differences among the three genotypes(P【0.05).The T allele carriers had higher serum ApoB levels as compared with the T allele noncarriers. The levels of TC,TG and LDL-C in Bai Ku Yao were correlated with genotypes(P【0.05-0.001),whereas the levels of LDL-C in Han were associated with genotypes(P【 0.001).Serum lipid parameters were also correlated with sex, age,body massindex,alcohol consumption,cigarette smoking, and blood pressure in the both ethnic groups.Conclusions The differences in serum TC,TG,LDL-C and ApoB levels between the two ethnic groups might partly result from different genotypic and allelic frequencies of the MTHFR C677Tor differentMTHFR gene-enviromental interactions.
基金This study was funded by a grant from the ChongQing Science and Technology Commission(grant no.cstc2015jcsf10012-03).
文摘The methylenetetrahydrofolate reductase(MTHFR)genotypes 677CT and 677TT are associated with elevated serum homocysteine(Hcy)levels by means of lowering the activity of MTHFR,and the increase in serum Hcy may be linked to increased susceptibility to nonalcoholic fatty liver disease(NAFLD).However,there are contradictory reports of the relationship among the MTHFR 677CT gene polymorphism,Hcy,and NAFLD.Therefore,the aim of this study was to identify potential associations and interactions of either Hcy levels or the MTHFR 677CT gene polymorphism with the susceptibility to NAFLD in a Chinese population.The association between the MTHFR 677 CT gene polymorphism and Hcy levels was determined in 243 subjects with NAFLD and 388 healthy subjects without NAFLD using polymerase chain reactionrestriction fragment length polymorphism analysis and high-performance liquid chromatography.In subjects with NAFLD,there was no statistical difference in the genotypic and allelic frequencies of the MTHFR 677 CT gene polymorphism,while serum Hcy levels were significantly higher in subjects with NAFLD.Furthermore,these results strongly suggest that the MTHFR 677CT gene polymorphism and NAFLD have a potential synergistic effect on Hcy elevation,although the MTHFR 677CT gene polymorphism was not correlated with NAFLD in a Chinese population.
基金This study was supported by grants from the Leading Talent of the"Hundred-Thousand-Ten Thousand Project"in Liaoning(XLYC1905004)Shenyang High-level Innovation Talents Plan(No.RC190403)。
文摘Background:Recent studies identifying methylenetetrahydrofolate reductase(MTHFR)polymorphisms associated with breast cancer(BC),ovarian cancer(OC),cervical cancer,and endometrial cancer(EC)have reported conflicting results and been underpowered.To clarify the correlation betweenMTHFR mutations and these common female malignancies,we conducted a comprehensive meta-analysis incorporating all eligible publications.Methods:Relevant reports published before January 20,2020,were retrieved from PubMed,Embase,the Cochrane Library,and the China National Knowledge Infrastructure databases.The odds ratio and 95% confidence interval summaries for theMTHFR 677C/T and 1298A/C polymorphisms in BC,OC,cervical cancer,and EC were estimated.Results:A total of 171 studies comprising 56,675 cancer cases and 67,559 controls were included.The results showed a markedly elevated risk of cancer susceptibility related toMTHFR 677C/T based on all genetic models.Similarly,we identified a significant correlation between 1298A/C mutation and cancer risk based on overall comparisons among all models,except the heterozygous model.Moreover,subgroup analysis by cancer type revealed a significantly increased risk of BC associated with 677C/T in the five models and of cervical cancer associated with 1298A/C in some models.Based on ethnicity,significant associations were observed between Asian,African,and mixed populations for 677C/T and the Asian population for 1298A/C.With regard to the sample type used for analysis,we detected a positive association between using blood as the DNA source and cancer risk for 677C/T in all genetic models and for 1298A/C in some genetic models.Further stratification of the results revealed that a notably increased risk was associated with the use of polymerase chain reaction-restriction fragment-length polymorphism or TaqMan as the genotyping method,as well as with the use of population-or hospital-based groups as the controls for 677C/T and 1298A/C,respectively.Conclusion:This meta-analysis suggests thatMTHFR 677C/T and 1298A/C polymorphisms correlate with the risk of common gynecological cancers,with these findings potentially applicable for overall comparisons of related data.
文摘Background:There are some risk factors being more vulnerable to Lemierre's syndrome such as a hypercoagulable state.Methods:We report a rare case of Lemierre's syndrome with ethmoid and maxillary sinusitis,bilateral mastoiditis,and sigmoid sinus thrombosis.Results:Genetic study revealed a double heterozygote status in the methylenetetrahydrofolate reductase gene including C677T and A1298C.Conclusion:It is suggested to screen patients with Lemierre's syndrome for a hypercoagulable state to consider anticoagulant therapy.
基金the support of the Research Center for Advanced Materials Science(RCAMS)at King Khalid University Abha,Saudi Arabia,through Grant(KKU/RCAMS/22).
文摘Genetic polymorphism has a vital role in the pathogenesis and development of myocardial infarction(MI).Single nucleotide polymorphism at any one of the amino acid sequences can result in a diseased state.A single gene can exhibit genetic polymorphism at more than one position giving rise to different variants.Genetic polymorphism of angiotensinogen(AGT)M235T,AGT T174M,and angiotensin-1-converting enzyme(ACE)I/D,endothelial nitric oxide synthase(eNOS),and methylenetetrahydrofolate reductase(MTHFR)can be a risk factor for MI.However,it is important to study the prevalence of genetic polymorphisms of these genes among different populations.MI is influenced by genetic polymorphism of various genes,including AGT,ACE,eNOS,MTHFR,etc.However,the association of genetic polymorphism of these genes varies among different populations,but different ethnic groups could show contradictory results.These genes have shown a positive association with risks of MI in some populations,whereas the results have not been consistent with every ethnic group.In this article,we have summarized the genetic variations in the aforementioned genes and their association with MI.
文摘BACKGROUND:Cerebral venous thrombosis(CVT) is a rare disease and it has different etiologies.Inherited or acquired prothrombotic state plays a key role in the development of CVT.METHODS:A 28-year-old man who presented to our emergency department with persistent headache and accompanied by complaints of nausea and vomiting over a week.Neurologic examination revealed bilateral papilledema.Brain computed tomography showed a hyperdense area on the posterior part of the occipital lobe.Brain magnetic resonance imaging and magnetic resonance venography revealed thrombosis of CVT.Homozygous mutations were found for methylenetetrahydrofolate reductase(MTHFR).MTHFR CG677 T gene mutation and blood tests showed elevated homocysteine levels on the etiological screening.There was no other etiology for CVT.RESULTS:Headache and other complaints were improved after treatment of heparin,warfarin,and vitamin B12.No recurrence of symptoms was observed upon outpatient follow-up.CONCLUSION:Since CVT is an important cause of headache,we recommend etiology screening for patients who present with CVT for MTHFR gene mutations and family counseling should be provided.
文摘<b><span style="font-family:;" "="">Background:</span></b><span style="font-family:;" "=""> As C677T mutation, A1298C mutation in methylene tetrahydrofolate reductase (MTHFR) gene results in a decreased MTHFR activity but </span><span style="font-family:;" "="">to</span><span style="font-family:;" "=""> a less extent, it is known as a risk factor of predisposition to human neural tube defects (NTDs), in some populations. Our objective was therefore to study, for the first time in Algerian population, if A1298C polymorphism confer</span><span style="font-family:;" "="">s </span><span style="font-family:;" "="">risk for the occurrence of this abnormality. We have examined the distribution of the genotype and the allele frequencies of A1298C mutation, and also their influence on plasma homocysteine (Hcy) concentration. <b>Patients and Methods:</b> We studied this polymorphism in 38 mothers of NTD cases and 67 control individuals of an eastern Algerian population. The muta<span>tion was determined by polymerase chain reaction</span></span><span style="font-family:;" "="">-</span><span style="font-family:;" "="">restriction fragm</span><span style="font-family:;" "="">ent length polymorphism analysis (PCR/RFLP). Plasma homocysteine concentration was analyzed using an automated chemiluminescence method. <b>Results:</b> No signi?cant association could be observed between allele and genotypes frequencies of A1298C MTHFR gene polymorphism and NTDs risk. However, we could observe that A1298C polymorphism affects homocysteine metabolism in mothers of NTD cases leading to homocysteine concentration values higher in AA genotype and lower in AC/CC genotypes (15.29</span><span style="font-family:;" "=""> </span><span style="font-family:;" "="">±</span><span style="font-family:;" "=""> </span><span style="font-family:;" "="">11.8 μmol/l <span>vs.<i> </i></span>8.63</span><span style="font-family:;" "=""> </span><span style="font-family:;" "="">±</span><span style="font-family:;" "=""> </span><span style="font-family:;" "="">3.83 μmol/l, <i>p</i> < 0.05). <b>Conclusion:</b> Data indicate that A1298C MTHFR gene polymorphism might be a risk factor by affecting homocysteine metabolism in mothers of Algerian children with NTDs.</span>
基金This work was supported by the National Natural Science Foundation of China(No.81901543,No.82071709,No.81901545,No.81971333,and No.82171599)the Key Research and Development Project of Anhui Province(2022e07020014)+2 种基金the Key Laboratory of Male Reproduction and Genetics of NHC(KF202003)the Joint Fund for Medical Artificial Intelligence(MAI2022Q010)the Joint Research Center for Genomic Resources(2017B01012-2021K001).
文摘Genetic risk factors have been shown to contribute to the development of sexual dysfunction.However,the role of methylenetetrahydrofolate reductase(MTHFR)gene variants in the risk of erectile dysfunction(ED)remains unclear.In this study,we recruited 1254 participants who underwent ED assessed by the International Index of Erectile Function-5.The MTHFR c.677C>T variant was also measured by fluorescence polymerase chain reaction(PCR).No significant difference in the genotypic frequency of the MTHFR C677T polymorphism(CC,CT,and TT)was observed between men from the ED and non-ED groups.In addition,on binary logistic regression analysis,both crude and adjusted models showed that the risk of ED was not significantly associated with the C677T polymorphism.Interestingly,a significantly higher frequency of the 677TT polymorphism was found in severe and moderate ED(P=O.02).The positive correlation between the MTHFR 677TT polymorphism and severe ED was confirmed by logistic regression analysis,even after adjusting for potential confounders(odds ratio[OR]=2.46,95%confidence interval[CI]:1.15-5.50,P=0.02).These findings suggest a positive correlation between the MTHFR 677TT polymorphism and the risk of severe ED.Identification of MTHFR gene polymorphisms may provide complementary information for ED patients during routineclinicaldiagnosis.
文摘Objective:To investigate the effect of enalapril on plasma homocysteine(Hcy) levels and the association of methylenetetrahydrofolate reductase(MTHFR) C677T polymorphism with the changes of Hcy levels in response to enalapril among patients with essential hypertension.Methods:A total of 130 patients with mild-to-moderate essential hypertension were enrolled and enalapril was orally administered at a dose of 10 mg/d for eight weeks.Plasma Hcy levels were measured by denaturing high-performance liquid chromatography(DHPLC) at baseline and after eight weeks of treatment.Genotyping of MTHFR C677T polymorphism was performed by TaqMan probe technique.Results:Compared with baseline,plasma Hcy levels did not change significantly after eight weeks(P=0.81).Stratified by baseline Hcy levels,a significant increase in plasma Hcy levels(P=0.02) among those with Hcy <10 μmol/L was observed,in contrast to no significant changes in plasma Hcy levels(P=0.54) among those with Hcy ≥10 μmol/L.No significant association was observed between MTHFR C677T polymorphism and changes in Hcy levels in response to enalapril.Conclusions:Enalapril may cause an increase in plasma Hcy levels among the hypertensives with low baseline Hcy levels.There was no significant association between MTHFR C677T genotypes and changes in Hcy levels in response to enalapril among subjects with essential hypertension.
