Relation between sonic hedgehog pathway gene polymorphisms and basal cell carcinoma development in the Polish population

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• 作者：Aleksandra Lesiak ; Dorota Sobolewska-Sztychny…
• 关键词：Sonic hedgehog pathway ; Basal cell carcinoma ; Polymorphisms ; SHH ; SMO ; GLI ; PTCH
• 刊名：Archives of Dermatological Research
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：308
• 期：1
• 页码：39-47
• 全文大小：415 KB
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• 作者单位：Aleksandra Lesiak (1)
  Dorota Sobolewska-Sztychny (1)
  Paweł Majak (2)
  Michał Sobjanek (3)
  Karolina Wodz (4)
  Karolina Przybyłowska- Sygut (5)
  Ireneusz Majsterek (5)
  Anna Wozniacka (1)
  Joanna Narbutt (1)
  
  1. Department of Dermatology, Medical University of Lodz, Plac Hallera 1, 90-647, Lodz, Poland
  2. Division of Internal Medicine, Asthma and Allergy, Medical University of Lodz, Lodz, Poland
  3. Department of Dermatology Venereology and Allergology, Medical University of Gdansk, Gdańsk, Poland
  4. Department of Experimental Immunology, Medical University of Lodz, Lodz, Poland
  5. Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Lodz, Poland
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Dermatology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-069X

文摘

In recent decades, increases have been observed in the incidence of nonmelanoma skin cancers, including basal cell carcinoma (BCC) and squamous cell carcinoma. BCC is the most common neoplasm in Caucasian populations. Sonic hedgehog (Shh) pathway impairment plays a key role in BCC pathogenesis, and there is evidence that Shh pathway genetic variations may predispose to BCC development. We genotyped 22 single-nucleotide polymorphisms (SNPs) in 4 Shh pathway genes: SHH, GLI, SMO, and PTCH. The study group consisted of 142 BCC patients and 142 age-matched, sex-matched healthy subjects (controls). SNPs were assessed using the PCR–RFLP method. The genotype distribution for the polymorphisms in the rs104894049 331 A/T SHH, rs104894040 349 T/C SHH, and rs41303402 385 G/A SMO genes differed significantly between the BCC patients and the controls. The presence of CC genotype in the SHH rs104894040 349 T/C polymorphism was linked to the highest risk of BCC development (OR 87.9, p < 0.001). Other genotypes, such as the TT in SHH rs104894049 331 A/T and the GG in SMO rs41303402 385 G/A also statistically raised the risk of BCC, but these associations were weaker. Other investigated polymorphisms showed no statistical differences between patients and controls. The results obtained testify to the importance of the SHH and SMO gene polymorphisms in skin cancerogenesis. These results mainly underline the potential role of SHH3 rs104894040 349 T/C gene polymorphism in the development of skin basal cell carcinomas in patients of Polish origin.