Assocıatıons Between Vıtamın D Receptor Gene Polymorphısms and Carpal Tunnel Syndrome

Area of Science:

• Genetics
• Neurology
• Endocrinology

Background:

• Carpal tunnel syndrome (CTS) is linked to Vitamin D deficiency, with supplementation potentially improving outcomes.
• Genetic factors, such as single nucleotide polymorphisms (SNPs) in the Vitamin D Receptor (VDR) gene, may influence Vitamin D's biological effects.
• Investigating VDR gene polymorphisms offers insight into CTS pathogenesis.

Purpose of the Study:

• To determine if Taq I and Fok I polymorphisms in the VDR gene are associated with the occurrence and severity of carpal tunnel syndrome.
• To evaluate the role of specific VDR gene variants in CTS development and progression.

Main Methods:

• A case-control study involving 100 CTS patients and 100 healthy controls.
• CTS severity was assessed using electromyography, categorizing patients into mild, moderate, and severe groups.
• VDR Fok I and Taq I genotypes were analyzed from peripheral blood samples, comparing allele frequencies between groups.

Main Results:

• The VDR Fok I genotype distribution and allele frequency were significantly associated with both the risk of developing CTS and its severity.
• In contrast, the VDR Taq I polymorphism did not show a significant association with CTS risk or severity.
• These findings highlight a specific genetic link between VDR Fok I and carpal tunnel syndrome.

Conclusions:

• VDR Fok I polymorphism is identified as a risk factor for developing carpal tunnel syndrome and severe CTS in the Turkish population.
• The study suggests a genetic predisposition to CTS related to VDR Fok I variations.
• Further research is recommended to elucidate the precise mechanisms underlying the relationship between VDR polymorphisms and carpal tunnel syndrome.