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目的探讨人类白细胞抗原E(HLA-E)基因多态性及血浆可溶性HLA-E(sHLA-E)水平与中国张家口地区汉族女性乳腺癌遗传易患性的关系。方法采用聚合酶链反应-序列特异性引物(PCR-SSP)法对中国张家口地区200例乳腺癌患者和228例健康对照人群HLA-E等位基因进行检测;同时用ELISA检测乳腺癌患者和健康对照人群sHLA-E水平。结果乳腺癌患者和健康对照组均检出2种等位基因:HLA-E*0101和HLA-E*0103;3种基因型:HLA-E*0101/HLA-E*0101、HLA-E*0101/HLA-E*0103和HLA-E*0103/HLA-E*0103。其中HLA-E*0103等位基因和HLA-E*0103/HLA-E*0103基因型在乳腺癌患者组的分布频率明显高于健康对照组,且携带HLA-E*0103/HLA-E*0103基因型的个体乳腺癌发病风险明显增加;血浆sHLA-E水平在乳腺癌患者组和健康对照组分布无明显差异,进一步分析发现携带HLA-E*0103/HLA-E*0103基因型患者血浆sHLA-E水平明显高于健康对照组;且HLA-E基因多态性及血浆sHLA-E水平与乳腺癌临床分期无明显相关性。结论HLA-E基因多态性与中国张家口地区汉族女性乳腺癌遗传易患性相关;HLA-E*0103/HLA-E*0103基因型可能是中国张家口地区汉族女性乳腺癌的易感基因;而血浆sHLA-E水平可能与乳腺癌的遗传易患性无明显相关性。
Objective To investigate the relationship between human leukocyte antigen E (HLA-E) gene polymorphism and plasma soluble HLA-E (sHLA-E) levels and genetic predisposition of Han women in Han nationality in Zhangjiakou, China. Methods The HLA-E alleles of 200 breast cancer patients and 228 healthy controls were detected by polymerase chain reaction-sequence-specific primers (PCR-SSP) in the Zhangjiakou area of China. HLA-E alleles were also detected by ELISA in breast cancer patients and healthy controls Control population sHLA-E levels. Results Two kinds of alleles were detected in breast cancer patients and healthy controls: HLA-E * 0101 and HLA-E * 0103; three types of HLA-E * 0101 / HLA- 0101 / HLA-E * 0103 and HLA-E * 0103 / HLA-E * 0103. The distribution frequency of HLA-E * 0103 allele and HLA-E * 0103 / HLA-E * 0103 genotype in breast cancer patients was significantly higher than that in healthy controls, and the frequencies of HLA-E * 0103 / HLA- There was no significant difference in the distribution of sHLA-E in breast cancer patients and healthy controls. Further analysis showed that plasma levels of HLA-E * 0103 / HLA-E * 0103 genotypes sHLA-E levels were significantly higher than the healthy control group; and HLA-E gene polymorphism and plasma sHLA-E levels and clinical stage of breast cancer no significant correlation. Conclusion HLA-E gene polymorphism is associated with genetic predisposition to breast cancer in Han nationality in Zhangjiakou area of China. HLA-E * 0103 / HLA-E * 0103 genotype may be a susceptible gene to breast cancer in Han nationality in Zhangjiakou, China. Plasma sHLA-E levels may not be associated with genetic predisposition to breast cancer.