系统性红斑狼疮中HLA II类基因的DNA多态性

DNA polymorphism of HLA class II genes in systemic lupus erythematosus.

作者信息

Cowland J B, Andersen V, Halberg P, Morling N

机构信息

Institute of Forensic Genetics, University of Copenhagen, Denmark.

出版信息

Tissue Antigens. 1994 Jan;43(1):34-7. doi: 10.1111/j.1399-0039.1994.tb02293.x.

DOI:10.1111/j.1399-0039.1994.tb02293.x

PMID:7912858

Abstract

We investigated the DNA restriction fragment length polymorphism (RFLP) of the major histocompatibility complex (MHC) genes: HLA-DRB, -DQA, -DQB, -DPB in 24 Danish patients with systemic lupus erythematosus (SLE) and in 102 healthy Danes. A highly significant increase of the frequency of the DR3- and DRw6-associated 7.00 kb DRB TaqI DNA fragment was found in SLE patients compared to normal controls (83.3% vs 35.5%; RR = 9.1, p < 10(-4). The frequencies of the DQA10501-associated 4.56 kb DQA TaqI fragment and the DRB301/03-associated 9.79 kb TaqI fragment were also found to be significantly increased in SLE patients (70.8% vs 29.7%; RR = 5.8, p < 10(-2) for the DQA fragment and 70.8% vs 36.1%; RR = 4.3, p < 0.05 for the DRB3 fragment). Less extensive and insignificant increases of the frequencies of the DR3-associated DQB and DPB fragments were observed. The frequencies of the DR2-associated DRB, DQA, and DQB fragments were comparable to those found in normal controls.

摘要

我们研究了24例丹麦系统性红斑狼疮（SLE）患者及102名健康丹麦人主要组织相容性复合体（MHC）基因：HLA - DRB、- DQA、- DQB、- DPB的DNA限制性片段长度多态性（RFLP）。与正常对照相比，SLE患者中与DR3和DRw6相关的7.00 kb DRB TaqI DNA片段的频率显著增加（83.3%对35.5%；相对危险度RR = 9.1，p < 10⁻⁴）。SLE患者中与DQA10501相关的4.56 kb DQA TaqI片段及与DRB301/03相关的9.79 kb TaqI片段的频率也显著增加（DQA片段为70.8%对29.7%；RR = 5.8，p < 10⁻²；DRB3片段为70.8%对36.1%；RR = 4.3，p < 0.05）。观察到与DR3相关的DQB和DPB片段频率有较小幅度且无统计学意义的增加。与DR2相关的DRB、DQA和DQB片段的频率与正常对照相当。