Vitamin D receptor gene polymorphisms in ocular surface squamous cell neoplasms

Area of Science:

• Ophthalmology
• Genetics
• Oncology

Background:

• Ocular surface squamous cell neoplasm (OSSCN) is a malignancy affecting the eye's surface.
• Vitamin D plays a role in cell proliferation and cancer development.
• Vitamin D receptor (VDR) gene polymorphisms may influence cancer susceptibility.

Purpose of the Study:

• To investigate VDR gene polymorphisms (FokI and BsmI) in patients with OSSCN.
• To determine the association between VDR polymorphisms and OSSCN susceptibility.
• To evaluate the relationship between VDR polymorphisms and the clinical course of OSSCN.

Main Methods:

• A case-control study involving 70 OSSCN patients and 75 healthy controls.
• Genotyping for VDR FokI and BsmI polymorphisms using polymerase chain reaction.
• Analysis of associations between genotypes, histopathology, recurrence, and tumor stage.

Main Results:

• No significant difference in FokI polymorphism frequency between groups.
• Significantly higher frequency of BsmI polymorphism (heterozygous or homozygous) in OSSCN patients (p=0.046).
• No correlation found between VDR polymorphisms and tumor stage, recurrence, or patient age.

Conclusions:

• BsmI polymorphism in the VDR gene, specifically the bb genotype and b allele, is associated with increased susceptibility to OSSCN.
• VDR BsmI gene polymorphisms may play a role in the formation, progression, and clinical course of OSSCN.
• Further research is warranted to elucidate the precise mechanisms.