Introduction: Women have been reported to have a higher risk for migraine. The pathogenesis of migraine is known to be related to genetic risk factors such as the presence of common polymorphisms C677T (rs1801133) and...Introduction: Women have been reported to have a higher risk for migraine. The pathogenesis of migraine is known to be related to genetic risk factors such as the presence of common polymorphisms C677T (rs1801133) and A1298C (rs1801131) in the MTHFR gene. The aim of the study was to examine the role of these two MTHFR polymorphisms as risk factors for pediatric migraine and examine the gender-specific differences. Methods: 56 patients (M = 26;F = 30) with migraine were randomly selected from Tartu University Hospital Children’s Clinic. 29 patients had migraine with aura (M = 13, F = 16) and 27 migraine without aura (M = 13, F = 14). The average age of the patients was 12.7 yrs (SD = 3.3). The control group consisted of 168 healthy people (M = 78, F = 90), ages 22 - 35 yrs (average 29.2 ± 3.4). Results: Among patients with aura, girls had higher frequency of A1298C and C677T mutations than boys, but not with statistical significance (minor allele frequency 0.406 and 0.231, p = 0.16;minor allele frequency 0.313 and 0.269, p = 0.72;respectively). In the migraine without aura group, girls had higher frequency in C677T (minor allele frequency 0.357 vs 0.231, p = 0.31) than boys. Comparing the migraine group with controls, higher frequencies of minor allele of A1298C and C677T in female patients were found (p = 0.63 and p = 0.32 respectively). In contrast, the C677T minor allele occurred in male controls with higher frequency (p = 0.34). Conclusion: Our results indicate a possible contribution of common MTHFR gene polymorphisms to migraine risk in children. 91% of children with migraine carried the variant alleles. Among girls, MTHFR polymorphisms occurred more frequently than among boys, but these differences were not statistically significant. We found that girls with migraine (with and without aura) showed an increased prevalence of C677T polymorphisms.展开更多
Aim： To analyze the distribution of the single nucleotide polymorphism （SNP） C677T in the methylenetetrahydrofolate reductase （MTHFR） gene in 355 infertile Chinese patients with idiopathic azoospermia or severe o...Aim： To analyze the distribution of the single nucleotide polymorphism （SNP） C677T in the methylenetetrahydrofolate reductase （MTHFR） gene in 355 infertile Chinese patients with idiopathic azoospermia or severe oligozoospermia and 252 fertile Chinese men as controls to explore the possible association of the SNP and male infertility. Methods： Using the polymerase chain reaction （PCR）-restriction fragment length polymorphism technique, the allele and genotype distribution of SNP C677T in the MTHFR gene were investigated in both patients and controls. Results： The frequencies of allele T （40.9% vs 30.4%, P = 0.002, odds ration [OR] = 1.58, 95% confidence interval [CI]： 1.24-2.02） and mutant homozygote （TT） （18.3% vs. 11.5%, P = 0.023, OR = 1.72, 95% CI： 1.07-2.76） as well as carrier with allele （TT ＋ CT） （63.4% vs. 49.2%, P = 0.0005, OR = 1.79, 95% CI： 1.29-2.48） in infertile patients were significantly higher than those in controls. After patient stratification, the significant differences in distribution of the SNP between each patient subgroup and control group still remained. Conclusion： Our findings indicate that there is an association of SNP C677T in the MTHFR gene with male infertility, suggesting that this polymorphism might be a genetic risk factor for male infertility in Chinese men.展开更多
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
OBJECTIVE： To assess whether 5, 10-methylenetetrahydrofolate reductase （MTHFR） gene polymorphism （TT genotype or T allele） is a risk factor for ischemic cerebrovascular disease （ICVD）. DATA SOURCES： MEDLINE an...OBJECTIVE： To assess whether 5, 10-methylenetetrahydrofolate reductase （MTHFR） gene polymorphism （TT genotype or T allele） is a risk factor for ischemic cerebrovascular disease （ICVD）. DATA SOURCES： MEDLINE and PubMed databases from September 1997 to December 2009 were searched for case-control studies that examined MTHFR genotype in human ICVD using ＂MTHFR, gene, polymorphism, and ischemic cerebrovascular disease＂ as search key words. STUDY SELECTION： Eighteen associated studies were identified. The methods used to collect relevant information factors were similar between case and control groups, and diagnosis of ischemic cerebrovascular disease was in accordance with Trial of ORG 10172 in Acute Stroke Treatment criteria classification, with some referring to European Stroke Diagnostic Criteria. Quality of all included studies was evaluated, and meta-analysis was conducted using RevMan4.2 software （Cochrane Collaboration, http：//www.cochrane-handbook.org） following strict screening. MAIN OUTCOME MEASURES： The correlation between MTHFR gene TT genotype or T allele and ICVD was determined. RESULTS： Eighteen studies involving 4 295 patients with ICVD and 6 169 control subjects were included for this meta-analysis. There was a significant difference in MTHFR gene TT genotype or T allele frequency （x^2 = 15.737, 9.186, P 〈 0.01） between ICVD cases and controls. In addition, six Chinese Han population studies were specially reviewed by meta-analysis. Results showed no significant difference between ICVD and control groups with regard to frequency of MTHFR gene TT genotype and T allele （x^2 = 1.076, 2.434, P 〉 0.05） in the Chinese Han population. CONCLUSION： Results from the present meta-analysis suggested that the MTHFR gene TT genotype or T allele is a risk factor for ICVD. However, the TT genotype or T allele is not a risk factor for ICVD in the Chinese Han population.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
文摘Introduction: Women have been reported to have a higher risk for migraine. The pathogenesis of migraine is known to be related to genetic risk factors such as the presence of common polymorphisms C677T (rs1801133) and A1298C (rs1801131) in the MTHFR gene. The aim of the study was to examine the role of these two MTHFR polymorphisms as risk factors for pediatric migraine and examine the gender-specific differences. Methods: 56 patients (M = 26;F = 30) with migraine were randomly selected from Tartu University Hospital Children’s Clinic. 29 patients had migraine with aura (M = 13, F = 16) and 27 migraine without aura (M = 13, F = 14). The average age of the patients was 12.7 yrs (SD = 3.3). The control group consisted of 168 healthy people (M = 78, F = 90), ages 22 - 35 yrs (average 29.2 ± 3.4). Results: Among patients with aura, girls had higher frequency of A1298C and C677T mutations than boys, but not with statistical significance (minor allele frequency 0.406 and 0.231, p = 0.16;minor allele frequency 0.313 and 0.269, p = 0.72;respectively). In the migraine without aura group, girls had higher frequency in C677T (minor allele frequency 0.357 vs 0.231, p = 0.31) than boys. Comparing the migraine group with controls, higher frequencies of minor allele of A1298C and C677T in female patients were found (p = 0.63 and p = 0.32 respectively). In contrast, the C677T minor allele occurred in male controls with higher frequency (p = 0.34). Conclusion: Our results indicate a possible contribution of common MTHFR gene polymorphisms to migraine risk in children. 91% of children with migraine carried the variant alleles. Among girls, MTHFR polymorphisms occurred more frequently than among boys, but these differences were not statistically significant. We found that girls with migraine (with and without aura) showed an increased prevalence of C677T polymorphisms.
基金Acknowledgment This work was supported by the National High Tech- nology Research and Development Program of China （Grants 2004AA216090 and 2002BA711A08）, National Basic Research Program of China （Grant 2004Cb518805）, the Natural National Science Foundation of China （Grant 30470960） and the China Medical Board of New York.
文摘Aim： To analyze the distribution of the single nucleotide polymorphism （SNP） C677T in the methylenetetrahydrofolate reductase （MTHFR） gene in 355 infertile Chinese patients with idiopathic azoospermia or severe oligozoospermia and 252 fertile Chinese men as controls to explore the possible association of the SNP and male infertility. Methods： Using the polymerase chain reaction （PCR）-restriction fragment length polymorphism technique, the allele and genotype distribution of SNP C677T in the MTHFR gene were investigated in both patients and controls. Results： The frequencies of allele T （40.9% vs 30.4%, P = 0.002, odds ration [OR] = 1.58, 95% confidence interval [CI]： 1.24-2.02） and mutant homozygote （TT） （18.3% vs. 11.5%, P = 0.023, OR = 1.72, 95% CI： 1.07-2.76） as well as carrier with allele （TT ＋ CT） （63.4% vs. 49.2%, P = 0.0005, OR = 1.79, 95% CI： 1.29-2.48） in infertile patients were significantly higher than those in controls. After patient stratification, the significant differences in distribution of the SNP between each patient subgroup and control group still remained. Conclusion： Our findings indicate that there is an association of SNP C677T in the MTHFR gene with male infertility, suggesting that this polymorphism might be a genetic risk factor for male infertility in Chinese men.
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OBJECTIVE： To assess whether 5, 10-methylenetetrahydrofolate reductase （MTHFR） gene polymorphism （TT genotype or T allele） is a risk factor for ischemic cerebrovascular disease （ICVD）. DATA SOURCES： MEDLINE and PubMed databases from September 1997 to December 2009 were searched for case-control studies that examined MTHFR genotype in human ICVD using ＂MTHFR, gene, polymorphism, and ischemic cerebrovascular disease＂ as search key words. STUDY SELECTION： Eighteen associated studies were identified. The methods used to collect relevant information factors were similar between case and control groups, and diagnosis of ischemic cerebrovascular disease was in accordance with Trial of ORG 10172 in Acute Stroke Treatment criteria classification, with some referring to European Stroke Diagnostic Criteria. Quality of all included studies was evaluated, and meta-analysis was conducted using RevMan4.2 software （Cochrane Collaboration, http：//www.cochrane-handbook.org） following strict screening. MAIN OUTCOME MEASURES： The correlation between MTHFR gene TT genotype or T allele and ICVD was determined. RESULTS： Eighteen studies involving 4 295 patients with ICVD and 6 169 control subjects were included for this meta-analysis. There was a significant difference in MTHFR gene TT genotype or T allele frequency （x^2 = 15.737, 9.186, P 〈 0.01） between ICVD cases and controls. In addition, six Chinese Han population studies were specially reviewed by meta-analysis. Results showed no significant difference between ICVD and control groups with regard to frequency of MTHFR gene TT genotype and T allele （x^2 = 1.076, 2.434, P 〉 0.05） in the Chinese Han population. CONCLUSION： Results from the present meta-analysis suggested that the MTHFR gene TT genotype or T allele is a risk factor for ICVD. However, the TT genotype or T allele is not a risk factor for ICVD in the Chinese Han population.
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.
