VDR gene FokI polymorphism as a poor prognostic factor for papillary thyroid cancer

Author:

Beysel Selvihan123ORCID,Eyerci Nilnur4,Pinarli Ferda Alparslan4,Apaydin Mahmut1,Kizilgul Muhammed1,Caliskan Mustafa1,Ozcelik Ozgur1,Kan Seyfullah1,Cakal Erman1

Affiliation:

1. Department of Endocrinology and Metabolism, Ankara Diskapi Yildirim Beyazit Teaching and Research Hospital, Ankara, Turkey

2. Department of Medical Biology, Başkent University, Ankara, Turkey

3. Department of Endocrinology and Metabolism, Afyonkarahisar Saglik Bilimleri University, Afyonkarahisar, Turkey

4. Department of Genetic Research, Ankara Diskapi Yildirim Beyazit Teaching and Research Hospital, Ankara, Turkey

Abstract

This is the first study to investigate the effect of vitamin D receptor ( VDR) gene single-nucleotide polymorphisms on the clinicopathologic features of papillary thyroid cancer in Turkey. A total of 165 patients with papillary thyroid cancer and 172 controls were included in this case–control study. VDR gene single-nucleotide polymorphisms FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) were evaluated using reverse-transcription polymerase chain reaction. VDR gene polymorphisms BsmI, ApaI, and TaqI did not differ between the papillary thyroid cancer group and control group (p > 0.05, each). BsmI, ApaI, and TaqI were not associated with papillary thyroid cancer risk. The VDR gene FokI CT/TT genotype was associated with an increased papillary thyroid cancer risk (CT vs CC: odds ratio = 1.71, 95% confidence interval = 1.15–2.76, p = 0.028; TT vs CC: odds ratio = 2.44, 95% confidence interval = 1.29–4.62, p = 0.005; CT/TT vs CC: odds ratio = 1.88, 95% confidence interval = 1.20–2.96, p = 0.006; CT/CC vs TT: odds ratio = 1.80, 95% confidence interval = 1.05–3.20, p = 0.041). VDR gene polymorphisms were not in linkage disequilibrium. The FokI TT genotype was associated with having T3 and T4, stage III/IV, extra-thyroidal invasion. The FokI CT/TT or TT genotype was associated with developing N1 status, multifocality, tumor size ≥10 mm, and treatment with radioiodine therapy. Persistence/recurrence did not differ between the FokI genotypes. Carriers of the FokI T allele were at an increased risk of more advanced tumor-node-metastasis stage, greater tumor size, multifocality, and extra-thyroidal invasion of papillary thyroid cancer compared with the CC genotype. VDR gene FokI T allele and TT genotype correlated with aggressiveness of papillary thyroid cancer; thus, FokI could be useful as a poor prognostic factor to assess the high risk of papillary thyroid cancer.

Publisher

IOS Press

Subject

General Medicine

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