scholarly journals BƯỚC ĐẦU ĐÁNH GIÁ KẾT QUẢ ĐIỀU TRỊ FOLAT Ở BỆNH NHÂN SẨY THAI LIÊN TIẾP MANG GEN MTHFR ĐỘT BIẾN

2022 ◽  
Vol 508 (2) ◽  
Author(s):  
Lê Thị Anh Đào ◽  
Lưu Thị Anh
Keyword(s):  
Mthfr C677t

Sảy thai liên tiếp và đột biến gen MTHFR được ghi nhận có liên quan rõ rệt ở chủng tộc da vàng. Điều trị folat có thể làm giảm nồng độ homocystein trong máu cải thiện kết cục thai kỳ. Mục tiêu: của nghiên cứu đánh giá kết quả điều trị bằng folate đối với bệnh nhân mang gen đột biến MTHFR C677T tại bệnh viện Phụ Sản Hà Nội. Nghiên cứu mô tả cắt ngang trên 30 bệnh nhân có tiền sử sẩy thai liên tiếp mang gen đột biến MTHFR được điều trị 5 mg Folat/ ngày trong 3 tháng. Kết quả 100% bệnh nhân mang gen MTHFR dạng dị hợp tử CT. Nồng độ trung bình của homocystein trước và sau điều trị lần lượt là 10,3±3,47; 6,8±2,48µmol/l, ( p=0,000). Kết luận: điều trị folat trong 3 tháng liên tục làm giảm nồng độ homocystein trong máu.

INTERRELATION OF ALLELIC VARIANTS OF HEMOSTASIS SYSTEM GENES ON THE DEVELOPMENT AND COURSE OF LUPUS NEPHRITIS

2019 ◽  
Vol 23 (2) ◽  
pp. 77-81
Author(s):  
E. N. Borisov ◽  
L. V. Ivanitsky ◽  
L. M. Samokhodskaya ◽  
T. N. Krasnova ◽  
E. P. Pavlikova ◽  
...  
Keyword(s):  
Lupus Nephritis ◽  
Mutant Allele ◽  
Impaired Renal Function ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Renal Survival ◽  
Mutant Genotype ◽  
Hemostatic System ◽  
Allelic Variations ◽  
Pai 1

THE AIM: to evaluate the effect of allelic variations in the hemostatic system genes on the development and course of lupus nephritis. PATIENTS AND METHODS. The study analyzed 100 patients with SLE Caucasians. 80 women and 20 men aged 16 to 73 years (mean age 37, ± 14 years). The duration of observation was for 73 patients over 5 years, for 18 – from 1 year to 5 years and for 9 – less than 1 year A rise in the level of creatinine in the blood above or equal to 2 mg / dl was considered a significant sign of impaired renal function. RESULTS. Among the patients included in the study, kidney damage was detected in 61 people (61%). In 33 of them (54.1%), a variant of renal pathology was observed according to the type of rapidly progressive lupus nephritis (BPVN). In patients with BH, mutations in the MTHFR (C677T) gene were statistically significantly more frequent (p = 0.033). The OR for the mutant genotype is 6.146 with 95% CI from 1.692 to 22.326. In patients with PWHD, mutations in the MTHFR (C677T) gene were statistically significantly more frequent (p = 0.031). The OR for the mutant genotype is 1.625 with 95% CI from 1.034 to 4.771. The five-year renal survival in carriers of the mutant allele of the MTHFR gene (C677T) is statistically significantly lower (72.8%) than in patients without this mutation (81.9%) (p = 0.027). Ten-year renal survival in carriers of the mutant allele of the MTHFR gene (C677T) is statistically significantly less (55.6%) than in patients without this mutation (70.5%) (p = 0.016). In patients with BH, mutations in the PAI-1 gene (4G / 5G 675) were statistically significantly more frequent (p = 0.046). OR for mutant genotype – 1.766 with 95% CI from 1.061 to 4.758. CONCLUSION. The mutant alleles of the MTHFR (C677T) and PAI-1 (4G / 5G 675) genes are likely to be associated with the development of BH. Polymorphism of the MTHFR gene (C677T) is associated with an unfavorable course of HH.

scholarly journals Changes in lifestyle, biological risk factors and total homocysteine in relation to MTHFR C677T genotype: a 5-year follow-up study

2009 ◽  
Vol 63 (10) ◽  
pp. 1233-1240 ◽  
Author(s):  
L L N Husemoen ◽  
A Linneberg ◽  
M Fenger ◽  
B H Thuesen ◽  
T Jørgensen
Keyword(s):  
Risk Factors ◽  
Mthfr C677t ◽  
Biological Risk ◽  
Follow Up Study ◽  
Total Homocysteine ◽  
Genotype A

Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

2021 ◽  
pp. 112067212110006
Author(s):  
Manuel Marques ◽  
Francisco Alves ◽  
Miguel Leitão ◽  
Catarina Rodrigues ◽  
Joana Tavares Ferreira
Keyword(s):  
Risk Factors ◽  
Literature Review ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Mthfr Polymorphisms ◽  
Vein Occlusion ◽  
C677t Mutation ◽  
Retinal Vascular Disease

The role of polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene in retinal vein occlusion (RVO) is a theme of discussion since the first reports of RVO in patients with MTHFR C677T mutation and without classic acquired risk factors for retinal vascular disease. The association between MTHFR polymorphisms and RVO has been studied over the last 20 years producing conflicting results. This review aims to summarize the literature concerning the role MTHFR polymorphisms as risk factors for RVO.

scholarly journals Molecular Analysis of Prothrombotic Gene Variants in Patients with Acute Ischemic Stroke and with Transient Ischemic Attack

Medicina ◽  
2021 ◽  
Vol 57 (7) ◽  
pp. 723
Author(s):  
Gustavo Cernera ◽  
Marika Comegna ◽  
Monica Gelzo ◽  
Marcella Savoia ◽  
Dario Bruzzese ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Causes Of Death ◽  
Southern Italy ◽  
Large Population ◽  
Mthfr C677t ◽  
Geographic Area ◽  
Gene Variants ◽  
Interesting Possibility ◽  
Ischemic Attack

Background and objectives: ischemic stroke (IS) is among the most frequent causes of death worldwide; thus, it is of paramount relevance to know predisposing factors that may help to identify and treat the high-risk subjects. Materials and Methods:we tested nine variants in genes involved in thrombotic pathway in 282 patients that experienced IS and 87 that had transient ischemic attacks (TIA) in comparison to 430 subjects from the general population (GP) of the same geographic area (southern Italy). We included cases of young and child IS to evaluate the eventual differences in the role of the analyzed variants. Results: we did not observe significant differences between TIA and the GP for any of the variants, while the allele frequencies of methylene-tetrahydrofolate reductase (MTHFR) C677T, beta-fibrinogen -455G>A and factor (FXIII) V34L were significantly higher in patients with IS than in the subjects from the GP. No significant interaction was observed with sex. Conclusions: the present data argue that some gene variants have a role in IS and this appears to be an interesting possibility to be pursued in large population studies to help design specific strategies for IS prevention.

scholarly journals Influence of MTHFR C677T and A1298C polymorphisms on the survival of pediatric patients with non-Hodgkin lymphoma

2021 ◽  
pp. 1-9
Author(s):  
Xiaoqin Zhu ◽  
Wei Li ◽  
Jia Zhu ◽  
Huimou Chen ◽  
Jinqiu Guan ◽  
...  
Keyword(s):  
Hodgkin Lymphoma ◽  
Pediatric Patients ◽  
Mthfr C677t ◽  
Non Hodgkin Lymphoma

Hyperhomocysteinemia and MTHFR C677T and A1298C polymorphisms are associated with chronic allograft nephropathy in renal transplant recipients

2004 ◽  
Vol 36 (10) ◽  
pp. 2979-2981 ◽  
Author(s):  
E.C. Pavarino-Bertelli ◽  
M.P. Sanches de Alvarenga ◽  
E.M. Goloni-Bertollo ◽  
M.A.S.F. Baptista ◽  
R. Haddad ◽  
...  
Keyword(s):  
Renal Transplant ◽  
Mthfr C677t ◽  
Chronic Allograft Nephropathy ◽  
Renal Transplant Recipients ◽  
Transplant Recipients

scholarly journals MTHFR C677T Polymorphism and Risk of HCC in Patients With Liver Cirrhosis: Role of Male Gender and Alcohol Consumption

2009 ◽  
Vol 33 (1) ◽  
pp. 102-107 ◽  
Author(s):  
Carlo Fabris ◽  
Pierluigi Toniutto ◽  
Edmondo Falleti ◽  
Elisabetta Fontanini ◽  
Annarosa Cussigh ◽  
...  
Keyword(s):  
Liver Cirrhosis ◽  
Alcohol Consumption ◽  
Mthfr C677t ◽  
Male Gender ◽  
C677t Polymorphism ◽  
Mthfr C677t Polymorphism

scholarly journals Prevalence of MTHFR C677T and MS A2756G polymorphisms in major depressive disorder, and their impact on response to fluoxetine treatment

CNS Spectrums ◽  
2012 ◽  
Vol 17 (2) ◽  
pp. 76-86 ◽  
Author(s):  
David Mischoulon ◽  
Stefania Lamon-Fava ◽  
Jacob Selhub ◽  
Judith Katz ◽  
George I. Papakostas ◽  
...  
Keyword(s):  
Major Depressive Disorder ◽  
Depressive Disorder ◽  
Mthfr C677t ◽  
Response Rates ◽  
Mthfr Gene ◽  
Methionine Synthase ◽  
Antidepressant Response ◽  
Major Depressive ◽  
Fluoxetine Treatment ◽  
Intent To Treat

AbstractObjectiveTo examine the prevalence of the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene and the A2756G polymorphism of methionine synthase (MS), and their impact on antidepressant response.MethodsWe screened 224 subjects (52% female, mean age 39 ± 11 years) with SCID-diagnosed major depressive disorder (MDD), and obtained 194 genetic samples. 49 subjects (49% female, mean age 36 ± 11 years) participated in a 12-week open clinical trial of fluoxetine 20–60 mg/day. Association between clinical response and C677T and A2756G polymorphisms, folate, B12, and homocysteine was examined.ResultsPrevalence of the C677T and A2756G polymorphisms was consistent with previous reports (C/C = 41%, C/T = 47%, T/T = 11%, A/A = 66%, A/G = 29%, G/G = 4%). In the fluoxetine-treated subsample (n = 49), intent-to-treat (ITT) response rates were 47% for C/C subjects and 46% for pooled C/T and T/T subjects (nonsignificant). ITT response rates were 38% for A/A subjects and 60% for A/G subjects (nonsignificant), with no subjects exhibiting the G/G homozygote. Mean baseline plasma B12 was significantly lower in A/G subjects compared to A/A, but folate and homocysteine levels were not affected by genetic status. Plasma folate was negatively associated with treatment response.ConclusionThe C677T and A2756G polymorphisms did not significantly affect antidepressant response. These preliminary findings require replication in larger samples.

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