Determination of Methylenetetrahydrofolate Reductase (MTHFR) gene polymorphism in Turkish patients with nonsyndromic cleft lip and palate

2013 ◽  
Vol 77 (7) ◽  
pp. 1143-1146 ◽  
Author(s):  
Deniz Aşlar ◽  
Erhan Özdiler ◽  
Ayşe Tuba Altuğ ◽  
Hakkı Taştan
Keyword(s):  
Gene Polymorphism ◽  
Cleft Lip ◽  
Methylenetetrahydrofolate Reductase ◽  
Cleft Lip And Palate ◽  
Mthfr Gene ◽  
Mthfr Gene Polymorphism ◽  
Turkish Patients

Thymidylate Synthase and Methylenetetrahydrofolate Reductase Gene Polymorphism in Normal Tissue As Predictors of Fluorouracil Sensitivity

2005 ◽  
Vol 23 (7) ◽  
pp. 1365-1369 ◽  
Author(s):  
Anders Jakobsen ◽  
Jens Nederby Nielsen ◽  
Niels Gyldenkerne ◽  
Jan Lindeberg
Keyword(s):  
Gene Polymorphism ◽  
Retrospective Analysis ◽  
Thymidylate Synthase ◽  
Methylenetetrahydrofolate Reductase ◽  
Response Rate ◽  
Prospective Trial ◽  
Mthfr Gene ◽  
Mthfr Gene Polymorphism ◽  
The Difference ◽  
Methylenetetrahydrofolate Reductase Gene Polymorphism

Purpose To analyze thymidylate synthase (TS) and methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with respect to fluorouracil (FU) sensitivity. Patients and Methods The study included a retrospective analysis of 88 patients with metastatic colorectal cancer and a prospective trial with 51 patients also with measurable metastases. All patients were treated with FU and leucovorin. The analysis of gene polymorphism was performed on normal intestinal tissue and lymphocytes. Results The response rate was significantly higher in patients with TS 3R/3R or MTHFR 677 TT gene polymorphism compared with the other groups. The difference of response rate translated to a difference in time to progression. Similar results were observed in the retrospective analysis and the prospective confirmatory trial. Conclusion The analysis of gene polymorphism allows delineation of a group of patients (30%) with a response rate to a single drug of approximately 50%. This information should be used in the design of tailored treatment.

Family-Based Association Study of the MTHFR Polymorphism C677T in Patients with Nonsyndromic Cleft Lip and Palate from Central Europe

2008 ◽  
Vol 45 (3) ◽  
pp. 267-271 ◽  
Author(s):  
Heiko Reutter ◽  
Stefanie Birnbaum ◽  
Amalia Diaz Lacava ◽  
Meinhard Mende ◽  
Henning Henschke ◽  
...  
Keyword(s):  
Association Study ◽  
Transmission Disequilibrium Test ◽  
Cleft Lip ◽  
Methylenetetrahydrofolate Reductase ◽  
Cleft Lip And Palate ◽  
Mthfr Gene ◽  
Mthfr Polymorphism ◽  
European Descent ◽  
Central European ◽  
Family Based

Objective: The 677C→T allele in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of nonsyndromic cleft lip and palate (CL/P). This study involved a family-based association study of the MTHFR polymorphism. Patients/participants: We examined 181 patients with CL/P of central European descent and their parents for this variant. Results: The transmission disequilibrium test (TDT) did not confirm an association between the MTHFR 677C→T polymorphism and nonsyndromic CL/P as previously suggested (p = .36). When comparing the offspring of mothers with periconceptional use of folate to those without, no statistically significant differences were found (p = .708). Conclusion: Our data suggest that the MTHFR 677C→T polymorphism does not make a major contribution to the occurrence of CL/P among central Europeans.

Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in patients with metastatic colorectal cancer: A sensitivity marker to 5-FU-based therapy

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 14532-14532
Author(s):  
O. O. Castillo Fernandez ◽  
L. A. Herrera ◽  
C. Castro ◽  
G. Calderillo ◽  
R. Herrera ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Overall Survival ◽  
Gene Polymorphism ◽  
Metastatic Colorectal Cancer ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
C677t Polymorphism ◽  
Standard Chemotherapy ◽  
C677t Mthfr ◽  
Mthfr Gene Polymorphism

14532 Background: 5-Fluorouracil (5FU) and Folinic Acid (FA) with either oxaliplatin or irinotecan have become the standard chemotherapy used for metastatic colorectal cancer. However, more than 50% of our patients cannot afford it. Moreover, we lack of predictive markers to 5FU/AF therapy. The methylenetetrahydrofolate reductase (MTHFR) is a key enzyme regulating the folate pool and its substrate 5,10-methylenetetrahydrofolate is needed for modulation of 5FU. The C677T MTHFR gene polymorphism is highly prevalent in Mexican population and is linked to altered enzyme activity and increases substrate levels. Many studies have suggested a better response rate to fluoropyrimidine based therapy related with C677T polymorphism. The aim of this study was to evaluate the presence of this polymorphism and its relation with progression free and overall survival in metastatic colon cancer treated with 5FU/FA Methods: Sections of paraffin- embedded healthy colonic mucosa of 29 patients with metastatic unresectable colorectal cancer treated with 5FU/FA as first line chemotherapy between 1998 and 2004 were collected to obtain DNA and determine the polymorphism by PCR and allele specific digestion. Results: We found a highly proportion of at least one mutated allele in our patients (8 homozygous wild type CC, 15 heterozygous CT, 6 mutated homozygous TT). C677T MTHFR gene polymorphism showed statistically significant differences in median progression free survival non polymorphic CC 3.23±0.68 month versus 4.8±0.18 month in polymorphic group CT and TT (p= 0.011 log rank test) and median overall survival in non polymorphic groups 6.7±2.63month versus 13 ±2.51 month in polymorphic group (p= 0.03 Breslow test).No other variable affected progression free or overall survival on univariate analysis. Conclusions: Our findings suggest that C677T polymorphism could play a role on survival in metastatic colorectal cancer treated with 5FU/FA. Futher studies evaluating standard chemotherapy and the analyzed polymorphism are recommended. No significant financial relationships to disclose.

An association of 5,10-Methylenetetrahydrofolate Reductase (MTHFR) gene polymorphism and ischemic stroke

2005 ◽  
Vol 14 (2) ◽  
pp. 67-74 ◽  
Author(s):  
Ryuichi Kawamoto ◽  
Katsuhiko Kohara ◽  
Yuichiro Oka ◽  
Hitomi Tomita ◽  
Yasuharu Tabara ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Gene Polymorphism ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
Mthfr Gene Polymorphism
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