HLA-G基因14bp插入/缺失多态性与系统性红斑狼疮的相关性

Association of HLA-G 14bp Insertion/deletion Polymorphism with Systemic Lupus Erythematosus

目的检测系统性红斑狼疮(systemic lupus erythematosus,SLE)患者人白细胞抗原G(human leukocyte antigen G,HLA-G)14bp插入/缺失多态性的基因型分布,明确其多态性与SLE易感性的关系。方法采用聚合酶链反应(polymerase chain reaction,PCR)检测231例SLE患者及367名健康体检者的HLA-G14bp插入/缺失多态性的基因型分布,并分析不同基因型SLE患者的临床特征。结果SLE患者及健康体检者的HLA-G14bp插入/缺失多态性基因型和等位基因分布处于Hardy-Weinberg平衡(SLE组:χ2=1.383,P=0.501;健康体检组:χ2=0.095,P=0.953)。该多态性等位基因及基因型频率在SLE组和健康体检组间分布无统计学差异(P均>0.05)。进一步分析HLA-G14bp多态性与SLE患者的临床特征发现,不同HLA-G14-bp基因型SLE患者之间临床症状、疾病活动性积分(systemic lupus erythematosus disease activity index,SLEDAI)亦均无统计学差异(P均>0.05);但抗Histone抗体阳性SLE患者-14bp/-14bp基因型频率、抗U1-snRNP抗体阳性SLE患者+14bp/-14bp基因型频率均明显增高(P值分别为0.002及0.036)。结论HLA-G14bp插入/缺失多态性与SLE易感性无关,但可能参与SLE自身抗体(抗Histone抗体及抗U1-snRNP抗体)的生成。

Objective To determine the association between HLA-G 14bp insertion/deletion polymorphism and the risk of systemic lupus erythematosus （SLE）. Methods 231 SLE patients and 367 healthy controls were recruited in this study. Polymerase chain reaction （PCR） was performed to detect the genotypes of SLE patients and controls. Clinical characteristics were analyzed between different HLA-G genotypes. Results HLA-G allelic frequencies were in Hardy-Weinberg equilibrium （X2= 0.095, P=0.953 for the control group and ~2= 1.383, P= 0.501 for the SLE patients group）. There was no association between HLA-G 14bp insertion/deletion polymorphism and the risk of SLE （P 〉 0.05）, meanwhile this polymorphism didn＇t influence SLE disease activity index either. Furthermore, no significant difference was observed in SLE patients carrying different HLA-G genotypes in regard to the symptoms and physical signs of patients. However, further analysis showed that elevated frequencies of homozygous -14bp genotype and heterozygote genotype were observed in patients with positive anti-histone antibody and anti-U,-snRNP antibody respectively. Conclusion Our results do not support the HLA-G 14-bp insertion/ deletion polymorphism as a genetic factor influencing SLE susceptibility, but the homozygous -14bp genotype （-14/-14bp） and heterozygote genotype （＋14/-14bp） may have a positive effect on production of antibodies.