Unilateral Frosted Branch Angiitis in a Case with Hyperhomocysteinemia and Methylene Tetrahydrofolate Reductase Mutation

2021 ◽  
Author(s):  
Şefik Can Ipek ◽  
Semih Gulle ◽  
Ismail Sari ◽  
Ali Osman Saatci
Keyword(s):  
Methylene Tetrahydrofolate Reductase ◽  
Frosted Branch Angiitis ◽  
Methylene Tetrahydrofolate

scholarly journals 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

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.

À propos d'une observation de déficit en méthylène-tétrahydrofolate réductase avec hyperprotéinorachie

1996 ◽  
Vol 3 (9) ◽  
pp. 935
Author(s):  
E. Bernard ◽  
C. Largillière ◽  
J. Zittoun ◽  
F. Flament ◽  
P. Pernes ◽  
...  
Keyword(s):  
Methylene Tetrahydrofolate Reductase ◽  
Methylene Tetrahydrofolate

Correlation between methylene tetrahydrofolate reductase (MTHFR) gene rs1801133 C>T polymorphisms and risk of osteoporosis

Pteridines ◽  
2021 ◽  
Vol 32 (1) ◽  
pp. 117-125
Author(s):  
Xiao Chen ◽  
Weiran Zhang ◽  
Jingmin Huang
Keyword(s):  
Clinical Studies ◽  
Meta Analysis ◽  
Recessive Gene ◽  
Fixed Effect Model ◽  
Gene Model ◽  
Methylene Tetrahydrofolate Reductase ◽  
Effect Model ◽  
Increased Risk ◽  
Regression Test ◽  
Methylene Tetrahydrofolate

Abstract Objective To evaluate the correlation between methylene tetrahydrofolate reductase (MTHFR) gene rs1801133 C>T polymorphisms and risk of osteoporosis. Methods We searched the clinical studies related to MTHFR gene rs1801133 C>T polymorphisms and risk of osteoporosis in the electronic databases of PubMed, Web of Science, EMBASE, China National Knowledge Infrastructure (CNKI), Chinese BioMedical Literature Database (CBM) and included the suitable publications in the present meta-analysis according to the inclusion and exclusion criteria. The data of included studies were extracted and pooled by a random or fixed-effect model. The odds ratio (OR) and 95% confidence interval (95% CI) were applied to demonstrate the correlation between MTHFR gene rs1801133 C>T polymorphisms and the risk of osteoporosis. Publication bias was assessed by Begg’s funnel plot and Egger’s line regression test. Results Seven case–control clinical studies were included and a data combination was made. The data was pooled by the fixed effect model because of no obvious statistical heterogeneity. The pooled results indicated that people with the T allele had increased risk of developing osteoporosis under the homologous gene model (TT vs CC) (OR = 2.36, 95% CI: 1.81–3.08, p < 0.05), dominant gene model (TT + CT) vs CC (OR = 1.47, 95% CI: 1.21–1.77, p < 0.05) and recessive gene model TT vs (CC + CT) (OR = 2.16, 95% CI: 1.71–2.74, p < 0.05). Egger’s line regression test indicated no significant publication bias for the present meta-analysis in the above homologous, dominant, and recessive gene models. Conclusion The MTHFR gene rs1801133 C>T polymorphisms are associated with osteoporosis and subjects with the T allele have an increased risk of developing osteoporosis.

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