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Open AccessArticle

Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer

CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilhã, Portugal
Serviço de Endocrinologia, Instituto Português de Oncologia de Coimbra, 3000-075 Coimbra, Portugal
Author to whom correspondence should be addressed.
Present address: Serviço de Endocrinologia, Centro Hospitalar do Baixo Vouga, 3810-193 Aveiro, Portugal.
Genes 2019, 10(8), 572;
Received: 19 June 2019 / Revised: 14 July 2019 / Accepted: 26 July 2019 / Published: 28 July 2019
(This article belongs to the Special Issue Thyroid Cancer: Genetics and Targeted Therapies)
Vitamin D is mostly known for its role in bone and calcium metabolism. However, studies have suggested that it also has inhibitory effects on tumor development and progression. Genetic variants close to genes that encode crucial enzymes for the synthesis (DHCR7 rs12785878), metabolism (CYP2R1 rs2060793) and degradation (CYP24A1 rs6013897) of vitamin D have been associated with serum levels of vitamin D. The aim of this case-control study was to determine the effect of these variants in the vitamin D pathway on the susceptibility to thyroid cancer. Five hundred patients with differentiated thyroid cancer and 500 controls were genotyped for the DHCR7 rs12785878, CYP2R1 rs2060793, and CYP24A1 rs6013897 variants. Genotype and allele frequencies were compared between patients and controls. The DHCR7 rs12785878 minor allele was associated with thyroid cancer under an additive (OR 1.38, 95% CI 1.15–1.65, p = 0.0004) and codominant (OR 1.88, 95% CI 1.30–2.74, p = 0.0021) model. These findings suggest that DHCR7 polymorphisms may be associated with an increased risk of thyroid cancer due to an effect of this gene on circulating vitamin D levels. View Full-Text
Keywords: thyroid cancer; vitamin D; genetics; polymorphisms thyroid cancer; vitamin D; genetics; polymorphisms
MDPI and ACS Style

Carvalho, I.S.; Gonçalves, C.I.; Almeida, J.T.; Azevedo, T.; Martins, T.; Rodrigues, F.J.; Lemos, M.C. Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer. Genes 2019, 10, 572.

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