Possible association between germline methylenetetrahydrofolate reductase gene polymorphisms and psoriasis risk in a Turkish population.

BACKGROUND: Psoriasis is a common chronic inflammatory skin disease caused by genetic and epigenetic factors. There are conflicting results in the literature about the association between psoriasis and the methylenetetrahydrofolate reductase gene (MTHFR), ranging from strong linkage to no association. AIM: To investigate the association between the germline MTHFR polymorphisms C677T and A1298C with psoriasis risk in a Turkish population. METHODS: The study enrolled 84 patients with psoriasis and 212 healthy controls (HCs) without any history of psoriasis. DNA was extracted from peripheral blood samples of patients and HCs, and real-time PCR was used for genotyping. Results were compared by Pearson χ² test and multiple logistic regression models. RESULTS: The frequency of both the MTHFR 677TT and A1298C (homozygous) genotypes was statistically significantly different from HCs. Point mutations were detected in all patients with early-onset psoriasis (before the age of 20 years). The T allele of MTHFR 677 and the C allele of MTHFR 1298 increased psoriasis risk by 12.4- and 17.0-fold, respectively, in patients compared with HCs. CONCLUSION: A possible association was detected betweengermline MTHFR 677 C>T and 1298 A>C genotypes and psoriasis risk in a Turkish population. These results need to be confirmed in further studies with larger sample sizes.

Vitamin D Receptor Gene BSMI, FOKI, APAI, and TAQI Polymorphisms and the Risk of Atopic Dermatitis.

BACKGROUND AND OBJECTIVE: The association between vitamin D receptor (VDR) gene polymorphisms and the risk of skin diseases has been widely studied, yet there is only one study on atopic dermatitis. In this study, we aimed to investigate the association between 4 VDR polymorphisms and atopic dermatitis. PATIENTS AND METHODS: This cross-sectional case control study was performed between March 2013 and April 2014 at the University Hospital in Çanakkale, Turkey. Peripheral blood samples were collected in EDTA tubes. DNA extraction was performed using the spin column procedure. The VDR polymorphisms FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) were determined by polymerase chain reaction-restriction fragment length polymorphism analysis in 42 atopic dermatitis patients and 96 healthy individuals from a Turkish population. RESULTS: The VDR rs1544410 polymorphism increased the risk of atopic dermatitis in our Turkish population [OR, 12.2; 95%CI, 0.44-336; P=.05]. The FoqI, TaqI, and ApaI polymorphisms were not significantly associated with atopic dermatitis susceptibility. CONCLUSION: The VDR Fok1, TaqI, and ApaI gene polymorphisms were not associated with the risk of atopic dermatitis in the Turkish population but the BsmI polymorphism was found to increase risk.

Calcinosis cutis universalis.

We report the case of a 49-year-old female who complained of hardening of the skin, with onset about 1.5 years before presentation. The laboratory data showed normal biochemistry profile. Routine haematochemical examinations showed slight anaemia, an increased erythrocyte sedimentation rate and negative rheumatological markers. Calcium excretion in a 24-h urine sample was normal, but the phosphate excretion was slightly low. The clinical diagnosis was verified by soft tissue ultrasound examination showing subcutaneous calcifications. X-ray examination of bones evidenced no abnormal calcification. Mammography revealed deep seated bilateral reticular calcifications, even in the axillary region. Histological examination showed calcinosis cutis. On these grounds, the diagnosis of idiopathic universal calcinosis cutis was made. The authors describe the clinical and histological picture and discuss the laboratory findings.