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

Area of Science:

• Genetics
• Oncology
• Endocrinology

Background:

• Papillary thyroid cancer (PTC) is the most common endocrine malignancy.
• The vitamin D receptor (VDR) plays a role in cell differentiation and proliferation, and its gene polymorphisms may influence cancer risk.
• Genetic variations in the VDR gene have been investigated for their association with various cancers, but data for PTC in the Turkish population are lacking.

Purpose of the Study:

• To investigate the association between VDR gene single-nucleotide polymorphisms (SNPs) and the clinicopathologic features of papillary thyroid cancer in a Turkish cohort.
• To determine if specific VDR SNPs are risk factors for PTC development or influence its aggressiveness.

Main Methods:

• A case-control study was conducted with 165 PTC patients and 172 controls.
• VDR gene SNPs (FokI, BsmI, ApaI, TaqI) were genotyped using reverse-transcription polymerase chain reaction (RT-PCR).
• Statistical analyses were performed to assess the association between VDR genotypes and PTC risk, as well as clinicopathologic characteristics.

Main Results:

• The VDR gene FokI CT/TT genotype was significantly associated with an increased risk of papillary thyroid cancer.
• FokI TT genotype correlated with advanced tumor stage (T3/T4), lymph node metastasis (N1), multifocality, larger tumor size (≥10 mm), and extra-thyroidal invasion.
• No significant association was found between BsmI, ApaI, TaqI polymorphisms and PTC risk or clinicopathologic features.

Conclusions:

• The VDR gene FokI polymorphism, particularly the T allele and TT genotype, is associated with an increased risk and aggressiveness of papillary thyroid cancer.
• VDR FokI genotype may serve as a potential poor prognostic factor for identifying high-risk PTC patients.
• Further research is warranted to elucidate the precise mechanisms underlying the VDR-PTC association.