Comprehensive SNP Scan of DNA Repair and DNA Damage Response Genes Reveal Multiple Susceptibility Loci Conferring Risk to Tobacco Associated Leukoplakia and Oral Cancer

• DOI: 10.1371/journal.pone.0056952
• Publication Date: 2013-02-20T22:51:08Z
• Authors: Pinaki Mondal; Sayantan Datta; Guru Prasad Maiti; Aradhita Baral; Ganga Nath Jha; Chinmay Kumar Panda; Shantanu Chowdhury; Saurabh Ghosh; Bidyut Roy; Susanta Roychoudhury
• Keywords: International HapMap Project; SNP

Polymorphic variants of DNA repair and damage response genes play major role in carcinogenesis. These are suspected as predisposition factors to Oral Squamous Cell Carcinoma (OSCC). For identification susceptible affecting OSCC development Indian population, the "maximally informative" method SNP selection from HapMap data non-HapMap populations was applied. Three hundred twenty-five SNPs 11 key involved double strand break repair, mismatch pathways were genotyped on a total 373 OSCC, 253 leukoplakia 535 unrelated control individuals. The significantly associated validated an additional cohort 144 patients 160 controls. rs12515548 MSH3 showed significant association with both discovery validation phases (discovery P-value: 1.43E-05, replication 4.84E-03). Two (rs12360870 MRE11A, 2.37E-07 rs7003908 PRKDC, 7.99E-05) found be only leukoplakia. Stratification subjects based amount tobacco consumption identified that either high or low exposed group. study reveals synergism between lifestyle