A Genome-Wide Association Study of Cutaneous Squamous Cell Carcinoma among European Descendants.

ABSTRACT:

Background

No GWAS on the risk of cutaneous squamous cell carcinoma (SCC) has been published. We conducted a multistage genome-wide association study (GWAS) to identify novel genetic loci for SCC.

Methods

The study included 745 SCC cases and 12,805 controls of European descent in the discovery stage and 531 SCC cases and 551 controls of European ancestry in the replication stage. We selected 64 independent loci that showed the most significant associations with SCC in the discovery stage (linkage disequilibrium r(2) < 0.4) for replication.

Results

Rs8063761 in the DEF8 gene on chromosome 16 showed the strongest association with SCC (P = 1.7 × 10(-9) in the combined set; P = 1.0 × 10(-6) in the discovery set and P = 4.1 × 10(-4) in the replication set). The variant all

SUBMITTER: Siiskonen SJ 

PROVIDER: S-EPMC4873347 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature