HLA‐DQB1*0301 association with increased cutaneous melanoma risk

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Abstract
Susceptibility to a variety of malignancies has been linked to human leukocyte antigen (HLA) genes, including the HLA class II allele DQBI*0301. To determine whether melanoma risk is associated with HLA class II alleles, molecular oligotyping of HLA class II‐DRBI, ‐DQAI and ‐DQAI genes was performed for 45 patients with melanoma. The DQBI *0301 allele was present in 56% of melanoma patients vs. 27% of 200 local Caucasian controls. This difference was highly significant (Bonferroni'scorrected chi‐square p = 0.003, OR = 3.4). No other class II allele tested was present at significantly increased or decreased frequency in melanoma patients. Furthermore, presence of DQBI*0301 in melanoma patients was associated with advanced disease. Melanoma patients carrying the DQBI*0301 allele presented on average with thicker primary tumors (mean 3.7 mm vs. 1.8 mm, 2‐tailed p = 0.02) and were more likely to present with regional or distant metastatic disease (stages III‐IV, 44% vs. 5%, chi‐square p = 0.003), compared to melanoma patients without DQBI*0301. Risk of melanoma incidence or progression may be influenced by DQBI*0301 or a closely linked gene.