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Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
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Relation between sonic hedgehog pathway gene polymorphisms and basal cell carcinoma development in the Polish
Aleksandra Lesiak1, Dorota Sobolewska-Sztychny2, Paweł Majak3
1Department of Dermatology, Medical University of Lodz, Plac Hallera 1, 90-647, Lodz, Poland. lesiak_ola@interia.pl.
Archives of Dermatological Research
|November 23, 2015
Summary
Genetic variations in the Sonic hedgehog (Shh) pathway, specifically in SHH and SMO genes, are linked to an increased risk of basal cell carcinoma (BCC). The CC genotype in SHH rs104894040 349 T/C significantly elevates BCC development risk.
Area of Science:
- Genetics
- Oncology
- Dermatology
Background:
- Nonmelanoma skin cancers, including basal cell carcinoma (BCC), have shown increasing incidence in recent decades.
- Basal cell carcinoma is the most prevalent neoplasm among Caucasian populations.
- Impairment of the Sonic hedgehog (Shh) pathway is a critical factor in BCC pathogenesis, with genetic variations potentially increasing susceptibility.
Purpose of the Study:
- To investigate the association between genetic variations in Sonic hedgehog (Shh) pathway genes and the risk of developing basal cell carcinoma (BCC).
- To identify specific single-nucleotide polymorphisms (SNPs) within the SHH, GLI, SMO, and PTCH genes that may predispose individuals to BCC.
Main Methods:
- Genotyping of 22 single-nucleotide polymorphisms (SNPs) in four Shh pathway genes (SHH, GLI, SMO, PTCH) using the PCR-RFLP method.
- Comparison of genotype distributions between 142 BCC patients and 142 age- and sex-matched healthy controls.
- Statistical analysis to determine significant differences and risk associations between genotypes and BCC development.
Main Results:
- Significant differences in genotype distribution were observed for polymorphisms in SHH (rs104894049 331 A/T, rs104894040 349 T/C) and SMO (rs41303402 385 G/A) between BCC patients and controls.
- The CC genotype of the SHH rs104894040 349 T/C polymorphism showed the highest risk association with BCC development (OR 87.9, p < 0.001).
- Other genotypes, including TT in SHH rs104894049 331 A/T and GG in SMO rs41303402 385 G/A, also statistically increased BCC risk, albeit with weaker associations.
Conclusions:
- Genetic polymorphisms in the SHH and SMO genes play a significant role in skin cancer development, particularly basal cell carcinoma.
- The SHH rs104894040 349 T/C gene polymorphism is highlighted as a potential key factor in the pathogenesis of basal cell carcinomas, especially in populations of Polish origin.
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