ARLTS1 polymorphisms and basal cell carcinoma of the skin
1 Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany
2 National Institute of Environmental Health, Budapest, Hungary
3 Environmental Health Center, Cluj, Romania
4 State Health Institute, Banska Bystrica, Slovakia
5 Center for Family Medicine, Karolinska Institute, Huddinge, Sweden
Hereditary Cancer in Clinical Practice 2007, 5:25-29 doi:10.1186/1897-4287-5-1-25Published: 15 March 2007
Polymorphisms in the ARLTS1 gene, a member of the Ras super-family, have been associated with susceptibility in different cancer types. The involvement of the gene in apoptotic signalling motivated us to study the role of ARLTS1 polymorphic variations in basal cell carcinoma of the skin (BCC). In a case-control study, 529 cases diagnosed with BCC and 533 controls from Hungary, Romania and Slovakia were genotyped for the S99S (297G>A), P131L (392C>T), L132L (396G>C), C148R (442T>C) and W149X (446G>A) polymorphisms in the ARLTS1 gene. No significant association between any of the single nucleotide polymorphisms (SNP) and risk of BCC (S99S, odds ratio (OR) 0.96, 95% confidence interval (CI) 0.60-1.53; P131L, OR 1.31 95%CI 0.74-2.31; L132L, OR 0.50, 95%CI 0.02-7.07; C148R, OR 0.50, 95%CI 0.69-1.18; and W149X, OR 1.01, 95%CI 0.37-2.79) was detected. Furthermore, no significant difference in the distribution of haplotypes due to five polymorphisms in the ARLTS1 gene was found between the BCC cases and controls. Our data rule out an association between variants in ARLTS1 and risk of BCC in the investigated population.