KEY TAKEAWAYS
- The study aimed to investigate the correlation between PTCH1 genetic variants and BCC development.
- Researchers noticed no significant association between studied PTCH1 variants and BCC development in Western Mexico population.
Basal cell carcinoma (BCC) is the most prevalent type of skin cancer, accounting for approximately 80% of cases. The PTCH1 gene encodes a transmembrane protein involved in the Sonic Hedgehog signaling pathway, crucial for regulating cell proliferation.
Marianela Zambrano-Román and her team, aimed to assess the association between PTCH1 genetic variants to BCC development, highlighting the significance of understanding its role in skin cancer pathophysiology through mRNA and protein expression analysis.
Researchers performed an analytical cross-sectional study, including 250 BCC patients and 290 subjects from the control group (CG), all born in western Mexico. The genotypes and relative expression of mRNA were determined by TaqMan® assay. Protein expression was investigated in 70 BCC paraffin-embedded samples using PTCH1 antibodies, with semi-quantitative analysis to determine expression levels in immunostained cells.
The PTCH1 genetic variants, rs357564, rs2297086, rs2236405, and rs41313327, had no evidence of association with susceptibility to BCC. Similarly, no statistically significant differences were observed in mRNA level expression between BCC and CG (P > 0.05). PTCH1 protein exhibited low expression in 6 analyzed samples and moderate expression in 1 sample. No association was found between genetic variants, protein expression, and demographic-clinical characteristics (P > 0.05).
The study concluded that the PTCH1 variants may not be associated with BCC development in the Western Mexico population. PTCH1 mRNA levels were lower in BCC patients compared to the control group, while its protein was underexpressed in tissue samples.
The study was supported by Universidad de Guadalajara
Source: https://pubmed.ncbi.nlm.nih.gov/38287479/
Zambrano-Román M, Padilla-Gutiérrez JR, Valle Y, et al. (2024). “PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico.” J Clin Lab Anal. 2024 Feb;38(3):e25010. doi: 10.1002/jcla.25010. Epub 2024 Jan 29. PMID: 38287479; PMCID: PMC10873687.
