An enhanced risk of basal cell carcinoma is associated with particular polymorphisms in the VDR and MTHFR genes

Abstract

Abstract:Background: Vitamin D and folate are influenced by ultraviolet radiation (UVR), and both are implicated in skin carcinogenesis. Polymorphisms in the genes involved in the metabolism of these two compounds may alter the risk of basal cell carcinoma (BCC).

Methylenetetrahydrofolate reductase gene polymorphisms and skin cancer risk: a meta-analysis

“…Of these five studies (19e23), three were high quality (NOS scores 7) (19,22,23) and two were moderate quality (4 NOS score < 7) (20,21). No study had a low NOS score (NOS score <4) ( Table 1).…”

Skin cancer and vitamin D: an update

“…There was no significant association for incident KC, although the numbers of these were quite small (n = 100). Similarly, the median serum level of 25(OH)D was significantly higher in the control group compared with the patients with BCC (29.5 vs 24.2 ng/ml, p = 0.003) in another study, although here blood samples were collected 2 weeks postdiagnosis [82].…”

“…Other VDR polymorphisms were also associated with increased BCC risk, but not so strongly [82]. The Fok1 polymorphism corresponds to a C/T substitution in exon 4 leading to a new translation initiation site and a longer VDR protein that is less transcriptionally active.…”

“…In an Australian study, homozygous genotypes of the Taq1 polymorphism, TT/tt, were associated with an increased risk of developing solar keratosis, compared with VDR heterodimers, for example, Tt [85]. One study showed that the expression of the VDR was significantly higher in BCCs of the patients than in the healthy skin of the controls [82].…”

Vitamin D, Cancer Risk, and Mortality

“…The majority of the papers, including melanoma and NMSC, showed a no significant increase risk for tt versus TT. Differently from the melanoma, in the case of basal cell carcinoma (BCC) a trend for an increased risk has been shown, and one study reached statistical significance (Lesiak et al, 2011): subjects having TaqI tt genotypes were associated with an increased the risk for developing BCC more than twice and half compare with the TT genotype (OR ¼ 2.59, 95%CI: 1.35, 4.95).…”