中国南方妇女子宫内膜异位症与人类白细胞抗原-DQA1等位基因相关性的研究

Association of human leukocyte antigen-DQA1 with endometriosis of women in southern China

目的 探讨子宫内膜异位症 (内异症 )与人类白细胞抗原 DQA1(HLA DQA1)位点等位基因的相关性及内异症患者的遗传易感性。方法 用聚合酶链反应 序列特异性引物 (PCR SSP)技术 ,对 5 1例经腹腔镜或手术证实为内异症的患者 (内异症组 )和 4 4例非内异症的妇女 (对照组 )进行HLA DQA1等位基因的基因分型。结果 HLA DQA1 0 4 0 1基因频率在内异症组 ( 12 % )明显高于对照组( 0 % ) (P =0 0 19) ,而HLA DQA1 0 3 0 1基因频率在内异症组 ( 14 % )明显低于对照组 ( 3 9% ) (P =0 0 0 5 ,比值比 =0 2 5 3 )。结论 HLA DQA1 0 4 0 1基因与内异症的遗传易感性相关 ,而HLA DQA1 0 3 0

Objective To study the genetic susceptibility in patients with endometriosis by genotyping their human leukocyte antigen DQA1 (HLA DQA1) alleles Methods The allelic types of HLA DQA1 were detected by polymerase chain reaction single specific primers (PCR SSP) technique in 51 patients with endometriosis proven by laparoscopy or histological examination, and 44 control women who had laparoscopic sterilization and without endometriosis Results The frequency of HLA DQA*0401 allele (12%) in patients with endometriosis group was markedly higher than that in the control group (0%) (P=0 019) Contrarily, the frequency of HLADQA10301 allele (39%) in control group was higher than that in endometriosis group (14%) (P=0005, odds ratio=0 253) Conclusion Our result indicated that HLADQA1*0401 may be a susceptible gene in correlation with endometriosis, whereas HLA DQA1*0301 may be a protective gene against endometriosis