Investigation of Genetic Association Between a High Activity Variant of Cathepsin G and Risk for Basal Cell Carcinoma

Abstract

Background/aim: Cathepsin G (CTSG) has been identified as an inhibitor of breast, bladder, and colorectal cancers. The G allele of the N125S (A/G, rs45567233) functional polymorphism of the CTSG gene confers increased serum CTSG activity and has been associated with cardiovascular and neurovascular diseases. This study examined the possible correlation between the pathogenesis of basal cell carcinoma (BCC) and the functional polymorphism CTSG N125S.

Patients and methods: A total of 197 DNA samples were examined, comprising 98 BCC patients and 99 control samples of Greek origin. The CTSG N125S polymorphism was molecularly genotyped using PCR amplification, followed by enzyme digestion, and agarose gel electrophoresis of the amplified DNA fragments.

Results: There was no statistically significant difference in the genotypic and allelic frequencies between the patient and the control groups.

Conclusion: There is no association between the CTSG N125S polymorphism and pathogenesis of BCC.

Keywords: CTSG gene; N125S; Skin cancer; basal cell carcinoma; cathepsin G; functional DNA polymorphism; rs45567233.