Genetic variants in the HLA class II region associated with risk of cutaneous squamous cell carcinoma.

ABSTRACT:

Background

The immune system has been implicated in the pathophysiology of cutaneous squamous cell carcinoma (cSCC) as evidenced by the substantially increased risk of cSCC in immunosuppressed individuals. Associations between cSCC risk and single nucleotide polymorphisms (SNPs) in the HLA region have been identified by genome-wide association studies (GWAS). The translation of the associated HLA SNPs to structural amino acids changes in HLA molecules has not been previously elucidated.

Methods

Using data from a GWAS that included 7238 cSCC cases and 56,961 controls of non-Hispanic white ancestry, we imputed classical alleles and corresponding amino acid changes in HLA genes. Logistic regression models were used to examine associations between cSCC risk and genotyped or impu

SUBMITTER: Wang W 

PROVIDER: S-EPMC7081741 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature