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Gene. 2013 Nov 1;530(1):109-12. doi: 10.1016/j.gene.2013.08.016. Epub 2013 Aug 14.

Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population.

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Gaziosmanpasa University, School of Medicine, Department of Dermatology, Tokat, Turkey. Electronic address:



Methylene-tetrahydrofolate reductase (MTHFR) is a key enzyme regulating folate metabolism and it is thought to influence DNA methylation and nucleic acid synthesis. Mutations in the MTHFR gene have been associated with several autoimmune disorders in previous studies. Alopecia areata (AA) is considered to be a tissue-specific autoimmune disease as the hair follicle has been targeted and antibodies to their own hair follicle structures have been developed. Since there is a common shared pathway between AA and other autoimmune disorders, we aimed to investigate a possible association between the MTHFR gene C677T mutation and AA susceptibility in the Turkish population.


The study included 136 patients affected by AA and 130 healthy controls. Genomic DNA was isolated and genotyped using a polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay for the MTHFR gene C677T mutation.


The distributions of genotype and allele frequencies of MTHFR gene C677T mutation were statistically different between AA patients and the control group (p=0.036 and p=0.011, respectively). High differences were also observed when the patients and controls were compared according to CC versus CT+TT (p=0.012). CT+TT genotypes and T allele of MTHFR gene C677T mutation were found to be a susceptibility factor for AA in the Turkish population.


The results suggest that MTHFR gene C677T mutation may have an effect on the risk of alopecia areata in the Turkish population. This is the first study reporting the association between the MTHFR (C677T) genotype and AA.


AA; ANOVA; AT; AU; Alopecia areata; Alopecia totalis; Alopecia universalis; Analysis of variance; C677T mutation; CIs; Confidence intervals; GD; Graves disease; LVH; Left ventricular hypertrophy; MTHFR; MTHFR gene; Methylene-tetrahydrofolate reductase; OR; Odds ratio; PCR; Polymerase chain reaction; RFLP; Restriction fragment length polymorphism; SD; SPSS; Standard deviation; Statistical Package for the Social Sciences

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