Lee J E, Reveille J D, Ross M I, Platsoucas C D
Department of General Surgery, University of Texas M.D. Anderson Cancer Center, Houston 77030.
Int J Cancer. 1994 Nov 15;59(4):510-3. doi: 10.1002/ijc.2910590413.
Susceptibility to a variety of malignancies has been linked to human leukocyte antigen (HLA) genes, including the HLA class II allele DQB10301. To determine whether melanoma risk is associated with HLA class II alleles, molecular oligotyping of HLA class II-DRB1, -DQA1 and -DQB1 genes was performed for 45 patients with melanoma. The DQB10301 allele was present in 56% of melanoma patients vs. 27% of 200 local Caucasian controls. This difference was highly significant (Bonferroni's-corrected 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 DQB10301 in melanoma patients was associated with advanced disease. Melanoma patients carrying the DQB10301 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 DQB10301. Risk of melanoma incidence or progression may be influenced by DQB10301 or a closely linked gene.
对多种恶性肿瘤的易感性与人类白细胞抗原（HLA）基因有关，包括HLA II类等位基因DQB10301。为了确定黑色素瘤风险是否与HLA II类等位基因相关，对45例黑色素瘤患者进行了HLA II类-DRB1、-DQA1和-DQB1基因的分子寡核苷酸分型。56%的黑色素瘤患者存在DQB10301等位基因，而200名当地白种人对照者中这一比例为27%。这种差异具有高度显著性（Bonferroni校正卡方检验p = 0.003，OR = 3.4）。在黑色素瘤患者中，所检测的其他II类等位基因的频率均未显著增加或降低。此外，黑色素瘤患者中DQB10301的存在与疾病进展相关。与没有DQB10301的黑色素瘤患者相比，携带DQB10301等位基因的黑色素瘤患者原发肿瘤平均更厚（平均3.7 mm对1.8 mm，双侧p = 0.02），并且更有可能出现区域或远处转移疾病（III-IV期，44%对5%，卡方检验p = 0.003）。黑色素瘤发生或进展的风险可能受DQB10301或一个紧密连锁基因的影响。
