association study of three single nucleutid polymorphisems in ptch1 gene with basal cell carcinoma

objective: basal cell carcinoma (bcc) is the most common human malignant neoplasm which is more frequent in white individuals. ptch and p53 are two major tumor suppressor genes which play important roles in pathogenesis of bcc. ptch is a twelve-pass transmembrane protein. it is an essential component of the sonic hedgehog signaling pathway that plays as a receiving receptor for members of the hedgehog family. ptch signaling pathway is actively involved in regulation of main processes of growth differentiation, stem cell growth and etiology of cancer. there are three single nucleotide polymorphisms (snps) including rs17852533, rs200902126 and rs3811553 in the ptch1 gene that their effects on ptch protein remain unknown. this study was aimed to analysis the possible association between these snps and risk of bcc. materials and methods: one hundred fifty three bcc patients in conjunction with 175 healthy controls were selected and were matched with each other for age and gender. dna was isolated from both groups and then subjected to analysis through polymerization chain reaction-restriction fragment length polymorphism (pcr-rflp). results: all of the studied samples from both groups were determined to be homozygous for the wild type genotype of the three studied snps. there was no significant association between those genetic variants and risk of bcc. discussion: our findings revealed no effect of rs147067171, rs78708791 and rs201125580 variants ofptch1 gene onbcc. this indicates that rs147067171, rs78708791 and rs201125580 are not being polymorphism in studied iranian subjects. perhaps they are mutations associated with other diseases that carryptch1 defect such as esophageal squamous cell carcinoma, trichoepitheliomas, holoprosencephaly and medullablastoma.