维吾尔族霍奇金淋巴瘤与HLA-DRB1、DPA1基因多态性的相关性研究

目的：探索人类白细胞抗原（HLA）DRB1和DPA1低分辨等位基因型与维吾尔族霍奇金淋巴瘤（HL）易感性的关系。方法：采用病例-对照研究（1∶2）和DNA直接测序分型（SBT）法，对40例维吾尔族HL患者和80名健康体检者进行HLA-DRB1及DPA1基因分型，分析其与HL发病的相关性。结果：对于HLA-DRB1和DPA1基因，病例组分别检出12和3个低分辨等位基因，对照组中分别检出13和4个低分辨等位基因；HLA-DRB1、DPA1基因座位上等位基因频率分布均满足Hardy-Weninberg遗传平衡检验（P > 0.05）。维吾尔族HL中HLA-DRB1*15、DPA1*03、DPA1*02-DRB1*13基因表达均高于维吾尔族健康对照组（P均<0.05）；而HLA-DRB1*07基因频率低于维吾尔族健康对照组（P < 0.05）。结论：HLA-DRB1、DPA1基因多态性可能与维吾尔族HL的发病存在关联，在揭示HL的发病机制方面有研究价值。

HLA-DRB1 and DPA1 gene polymorphisms in Hodgkin's lymphoma of Uighurs

OBJECTIVE:To explore the relationship between the human leukocyte antigen (HLA)DRB1,DPA1 low resolution type alleles and susceptibility of Uighurs to develop Hodgkin's lymphomas (HL).METHODS:Using a case-control study design,DNA direct sequencing classification method (SBT) was used to detect alleles inHLA-DRB1 and expression ofHLA-DPA1 gene among 40 cases of Uighur patients and 80 healthy controls. TheHLA-DRB1 andDPA1 allele frequencies between the two groups were compared. The correlation between them with the pathogenesis of HL was analyzed.RESULTS:HLA-DRB1 andDPA1 low resolution alleles were detected 12,3 types in the case group and 13,4 types in the control group,the frequency distribution of which met the Hardy-Weninberg genetic balance test (P>0.05). The results show thatHLA-DRB1*15,DPA1*03 andDPA1*02-DRB1*13 gene frequencies were significantly more frequent in the Uighur patients than the controls (P=0.016,OR=3.476;P=0.002,OR=4.248;P=0.037,OR=3.028, respectively);HLA-DRB1*07 gene frequencies between the two groups were statistically significant (P=0.025, OR=0.314). CONCLUSION:HLA-DRB1,DPA1 gene polymorphism may be closely associated with the onset ofHL among Uighurs and with pathogenesis of HL.