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No association between MDM2 SNP309 promoter polymorphism and basal cell carcinoma of the skin
Author(s) -
Wilkening S.,
Hemminki K.,
Rudnai P.,
Gurzau E.,
Koppova K.,
Försti A.,
Kumar R.
Publication year - 2007
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2007.07994.x
Subject(s) - snp , single nucleotide polymorphism , basal cell carcinoma , mdm2 , taqman , genotype , biology , cancer research , cell cycle , age of onset , genetics , cell , gene , polymerase chain reaction , medicine , basal cell , disease
Summary Background The MDM2 oncoprotein promotes cell survival and cell cycle progression by inhibiting the p53 tumour suppressor protein. Further, overexpression of the MDM2 gene can inhibit DNA double‐strand break repair in a p53‐independent manner. Recent studies have shown that a single nucleotide polymorphism (SNP) in the intronic promoter region of MDM2 (called SNP309) can significantly change the expression of MDM2 and thereby suppress the p53 pathway. This SNP was also found to be associated with the onset and risk of different cancer types. Basal cell carcinoma of the skin (BCC) is one of the most common neoplasms in the world. BCC development is associated with environmental factors (especially sun exposure) as well as heritable factors. Objectives The present case–control study investigated the association of the MDM2 SNP309 with the risk and the age at onset of BCC. Methods Data from 509 individuals affected by BCC and 513 healthy controls were genotyped with TaqMan polymerase chain reaction. Results Cases and controls showed a similar genotype distribution and the SNP did not modify the age at onset of BCC. Conclusions These results suggest that the MDM2 SNP309 alone affects neither the risk nor the age at onset of BCC.