Abstract | BACKGROUND: OBJECTIVE: To assess the frequency of four polymorphisms in the gene encoding the vitamin D receptor (VDR) (FokI, BsmI, TaqI and ApaI) and two in the gene encoding methylenetetrahydrofolate reductase (MTHFR) (677C/T and 1286A/C) in 142 patients of Polish origin with BCC and the same number of controls. The expression of VDR and MTHFR proteins in the skin, and the vitamin D status of a subset of patients and controls were also measured. PATIENTS/METHODS: RESULTS: The presence of the TT genotype in the FokI VDR polymorphism resulted in a >10-fold higher risk of BCC development. The CT genotype in 677C/T MTHFR polymorphism and CC genotype in 1286A/C MTHFR polymorphism also significantly increased the risk of BCC development. The expression of the VDR and MTHFR proteins was significantly higher in BCCs of the patients than in the healthy skin of the controls. The median serum level of 25( OH)D was significantly higher in the control group compared with the patients with BCC. CONCLUSIONS: Certain VDR and MTHFR gene polymorphisms increase the risk of BCC development in individuals of Polish origin.
|
Authors | Aleksandra Lesiak, Mary Norval, Karolina Wodz-Naskiewicz, Rafal Pawliczak, Michal Rogowski-Tylman, Anna Sysa-Jedrzejowska, Michal Sobjanek, Adam Wlodarkiewicz, Joanna Narbutt |
Journal | Experimental dermatology
(Exp Dermatol)
Vol. 20
Issue 10
Pg. 800-4
(Oct 2011)
ISSN: 1600-0625 [Electronic] Denmark |
PMID | 21732987
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Copyright | © 2011 John Wiley & Sons A/S. |
Chemical References |
- Receptors, Calcitriol
- Vitamin D
- Folic Acid
- Methylenetetrahydrofolate Reductase (NADPH2)
|
Topics |
- Adult
- Aged
- Carcinoma, Basal Cell
(etiology, genetics, metabolism)
- Case-Control Studies
- Female
- Folic Acid
(metabolism)
- Gene Frequency
- Genetic Predisposition to Disease
- Genotype
- Humans
- Male
- Methylenetetrahydrofolate Reductase (NADPH2)
(genetics, metabolism)
- Middle Aged
- Poland
- Polymorphism, Genetic
- Polymorphism, Single Nucleotide
- Receptors, Calcitriol
(genetics, metabolism)
- Risk Factors
- Skin
(metabolism)
- Skin Neoplasms
(etiology, genetics, metabolism)
- Ultraviolet Rays
(adverse effects)
- Vitamin D
(metabolism)
|