Bilateral acute renal infarction secondary to methylene tetrahydrofolate reductase A1298C and PAI-1 mutation

Aim: The objective of this study was to investigate a possible correlation between the plasminogen activator inhibitor-1 (PAI-1) and methylene tetrahydrofolate reductase (MTHFR) polymorphisms and unexplained spontaneous miscarriages (SM). Materials and Methods: PAI-1 polymorphisms were evaluated in 150 women with pregnancy in their history. One hundred women with a history of SM formed the study group and 50 women with normal pregnancies served as the control group. Also, the combination of PAI-1 and MTHFR polymorphisms were evaluated in 138 women out of a total of 150, which included 92 women with SM in their history compared to 46 women in the control group. For statistical analysis, χ2 test, Phi, and Cramer V tests were used; p < 0.05 was taken as a statistically significant result. Results: Our findings show: (a) the correlation between SM and PAI-1 mutations reaches statistical significance (p = 0.026); (b) there was a statistically significant difference between heterozygous PAI-1 in women with only 1 SM compared to the control group (p = 0.047); (c) the comparison of combinations of both mutations, PAI-1 and MTHFR, with the control group demonstrates statistical significance in favor of women with SM and both mutations (p = 0.022). Conclusion: PAI-1 and MTHFR polymorphisms may play an important role in pregnancy complications because heterozygous PAI-1 mutations and a combination of both PAI-1 and MTHFR mutations might contribute to SM.

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C677T Single Nucleotide Polymorphisms of the Human Methylene Tetrahydrofolate Reductase and Specific Identification

Molecular Diagnosis ◽

10.2165/00066982-200307020-00003 ◽

2003 ◽

Vol 7 (2) ◽

pp. 99-111

Author(s):

Zeno F??ldes-Papp ◽

Masataka Kinjo ◽

Kenta Saito ◽

Hiroaki Kii ◽

Takuya Takagi ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Specific Identification ◽

Methylene Tetrahydrofolate Reductase ◽

Methylene Tetrahydrofolate

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The association of methylene tetrahydrofolate reductase (MTHFR) A1298C gene polymorphism, homocysteine, vitamin B12, and folate with coronary artery disease (CAD) in the north of Iran

Turkish Journal of Biochemistry ◽

10.1515/tjb-2019-0340 ◽

2020 ◽

Vol 0 (0) ◽

Author(s):

Saeideh Amani ◽

Ebrahim Mirzajani ◽

Seyed Mehrdad Kassaee ◽

Minoo Mahmoudi ◽

Fardin Mirbolouk

Keyword(s):

Coronary Artery Disease ◽

Gene Polymorphism ◽

Vitamin B12 ◽

Control Group ◽

Mthfr A1298c ◽

Methylene Tetrahydrofolate Reductase ◽

North Of Iran ◽

A1298c Polymorphism ◽

Methylene Tetrahydrofolate ◽

Artery Disease

AbstractBackgroundWe pursued to find out the possible association of Methylene tetrahydrofolate reductase (MTHFR) A1298C gene polymorphism, blood homocysteine, vitamin B12, and folate with Coronary artery disease (CAD) in the study population in Guilan, north of Iran.Material and MethodsNinety patients with CAD and 76 healthy controls were evaluated. MTHFR A1298C polymorphism and its genotype frequency, the plasma level of homocysteine, vitamin B12 and folate were evaluated by using ARMS-PCR, ELISA, and Chemiluminescence methods, respectively.ResultsThe frequency of genotypes, A, AC and CC in CAD were 40, 35.6, 24.4%, respectively which was significantly different (p=0.016) from the control group that were 26.3, 57.9 and 15.8%, respectively. The serum level of vitamin B12 and folate in genotype A1298C were not statistically significant between two groups (p>0.05), however, the plasma homocysteine in patients with CAD was remarkably higher than the control group (p<0.001). Additionally, in CAD patients the plasma level of homocysteine in the AC genotype was significantly higher than the control subjects (p=0.005).ConclusionIt is thus concluded that MTHFR A1298C gene polymorphism is associated with CAD. It seems that the AC genotype of MTHFR A1298C polymorphism might have a protective effect on CAD.

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