HLA-DQ多态性基因与系统性红斑狼疮易感性

HLA-DQ Polymorphism and Susceptibility to Systemic Lupus Erythematosus

采用PCR-SSO方法对江苏籍汉族SLE患者和正常对照组HLA-DQ作基因分型.结果显示,患者组中DQA1*0102频率(RR=3.43.Pc=0.03164)及HLA-DQA1*0102,DQB1*0601和HLA-DQA1*0102,DQB1*0602单倍型频率(RR=9.4,P=0.027和RR=12.4.P=0.007)均明显高于正常对照组.相反,DQA1*0601频率则显著低于正常对照组(RR=0.29,Pc=0.0461).但没发现任何DQB1等位基因与SLE有关.这提示在汉族SLE与HLA-DQ基因的相关性方面,DQA1*0102起主导作用.DQA1*0102或某个与其紧密连锁的其它基因可能是汉族SLE的易感基因,而DQA1*0601则可能对SLE的发病有一定的保护性.

We used polymerase chain reaction (PCR) and digoxigenin-labeled sequence specific oligonu-cleotide (SSO) probe hybridization to type HLA-DQ subregion in patients of Han nationality with systemic lupus erythematosus(SLE) and matched control subjects. The results showed that DQA1 * 0102 gene frequency (RR=3. 43,Pc = 0. 03164) and HLA-DQA1 * 0102,DQB1 * 0601 (RR = 9. 4,Rc = 0. 027) and HLA-DQA1 * 0102,DQB1 * 0602(RR = 12. 4,Pc = 0. 007)haplotype frequecies were significantly higher than those of controls, whereas DQA1 * 0601 was significantly lower in patients, compared with controls (RR = 0. 29,Pc = 0. 04612),but there was no relation between DQB1 allelels and SLE. It suggests that DQA1 * 0102 may be a susceptibile gene of the patients with SLE,and DQAl * 0601 may have a protective effect.