南台灣女性乳癌病人其人類白血球組織抗原-DQA1, -DQB1等位基因多型性分析之相關性研究

Abstract Background and Aim: The pathogenesis of breast cancer is multifactorial. Genetic predisposition, environmental factors, hormones and even infections agent are thought to interact in the manifestation of breast cancer. Particular human leukocyte antigen (HLA) alleles play a pivotal role in cellular immunity and may be an important genetically determined host trait. Regardless of the importance and functions of HLA genes in the evolution of cancer, the allele specific association of HLA molecules in cancer patients has not been well established. Recently, there are a few studies concentrating on the association between HLA and breast cancer. Besides, the results of those studies were controversial. Materials and Methods: We designed a study to evaluate the association between the genotype of HLA class II genes and the breast cancer, polymorphism of HLA-DQA1 and -DQB1 were determined by polymerase chain reaction with sequence specific primers (PCR-SSP) in 101 Taiwanese women patients with breast cancer and 115 matched control subjects. We also investigated the effect of breast cancer site estrogen receptor, progesterone receptor, HER-2/neu on the association between HLA-DQA1, DQB1 and female breast cancer. Result: By PCR SSP typing, the HLA-DQA1 and -DQB1 locus comparison of allele frequencies between breast cancer patients and healthy controls showed no significant difference at the HLA-DQA1 and-DQB1 locus. In female breast cancer patients with HER-2/neu positivity, the frequencies of DQA1*0501 24% were significant higher then that of HER-2/neu negativity 7.7% (Pc=0.04) Conclusion: We have established the importance to a lack of HLA-DQA1 and -DQB1 association with breast cancer in southern Taiwanese women, and we found that the HLA-DQA1*0501 allele frequencies of breast cancer patients with HER-2/neu positivity were significantly higher then that of HER-2/neu negativity (Pc=0.04). The results of this study may provide information for further clarification of the etiology of breast cancer in this region. Key words: Breast cancer, genetic susceptibility, protective alleles, human leukocyte antigen.