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目的 为了明确IL 1α和 β基因多态性是否是评估RA疾病活动性和骨过度转换的更有效的标志 ,明确IL 1基因多态性与RA优势基因 (motifgene)之间有无关联。方法 探测了 6 5名RA患者和 6 0名非风湿病对照者的IL 1等位基因分布。IL 1基因多态性分析采用PCR—RFLP方法 ,HLA—DR分型采用PCR—SSOP方法。Fisher’s检验及方差分析被用于基因频率和携带率及临床参数统计。结果 IL 1α的频率和携带率在RA病人和对照组之间无显著性差别。在女性RA病人中IL 1β纯合子等位基因 2的出现频率更高 ,在男性RA病人中等位基因 1的频率较高而等位基因 2的携带率较低。IL 1β等位基因 2携带率与CRP ,ESR ,关节痛和BMD呈正相关 ,与尿Udpd/Crea水平及Vit D3水平呈负相关。IL 1α等位基因 1与CRP呈负相关 ,与RF和关节肿胀有正相关。IL 1α等位基因 2的出现伴随较高的ESR ,HAQ ,Vit D3水平和较低的RF滴度 ,SJC和BMD。HLA DRB1RA优势等位基因和IL 1β等位基因 2的同时出现对RA的一些临床参数并没有影响。结论 RA与IL 1基因多态性有显著联系 ,特别是IL 1β等位基因 2与病情活动及骨密度增高直接相关。HLA DRB1RA优势等位基因和IL 1β等位基因 2的同时出现并不表示风湿疾病更严重。
Objectives To determine whether IL-1α and β gene polymorphisms are more effective markers for assessing RA disease activity and bone over-conversion, it is possible to determine whether IL-1 gene polymorphisms are associated with RA-predominant motif genes. Methods The IL 1 allele distribution was examined in 65 RA patients and 60 non-rheumatic disease controls. IL-1 gene polymorphism was analyzed by PCR-RFLP method and HLA-DR genotype by PCR-SSOP method. Fisher’s test and analysis of variance were used for gene frequency and carriage rate and clinical parameter statistics. Results There was no significant difference in the frequency and carrier rate of IL-1α between RA patients and controls. IL 1 beta homozygous allele 2 occurs more frequently in female RA patients, with a higher frequency of allele 1 and a lower carryability of allele 2 in men with RA. The carrier rate of IL-1β allele 2 was positively correlated with CRP, ESR, joint pain and BMD, but negatively correlated with urine Udpd / Crea level and Vit D3 level. IL-1α allele 1 was negatively correlated with CRP and positively correlated with RF and joint swelling. The presence of IL 1α allele 2 was accompanied by higher ESR, HAQ, Vit D3 levels and lower RF titers, SJC and BMD. The simultaneous appearance of HLA DRB1RA predominant allele and IL1 beta allele 2 has no effect on some of the clinical parameters of RA. Conclusion There is a significant association between RA and IL-1 gene polymorphism. In particular, IL-1β allele 2 is directly related to disease activity and bone mineral density. The simultaneous appearance of HLA DRB1RA dominant allele and IL1 beta allele 2 does not indicate that the rheumatic disease is more severe.