系统性硬化症中糖尿病相关基因的关联是继发于与HLA基因的关联。

Association of DM genes in systemic sclerosis is secondary to the association with HLA genes.

作者信息

Takeuchi F, Takizawa K, Nabeta H, Kuwata S, Ito K

机构信息

Department of Internal Medicine and Physical Therapy, Faculty of Medicine, University of Tokyo, Japan.

出版信息

Scand J Rheumatol. 1997;26(3):174-9. doi: 10.3109/03009749709065677.

DOI:10.3109/03009749709065677

PMID:9225871

Abstract

The contribution of polymorphism of DMA and DMB alleles to the pathogenesis of Japanese Systemic Sclerosis (SSc) was studied in 55 Japanese SSc patients and 77 normal Japanese subjects using the PCR-RFLP (restriction fragment length polymorphism) method. The allele frequencies of DMB0101 allele were increased in SSc with diffuse scleroderma (70.0% vs 49.4%, p < 0.05, pc = not significant (NS)) and in SSc with antitopoisomerase I antibody (a-Scl-70), (68.2%, p < 0.05, pc = NS). The phenotype frequencies of DMB0101 in these subgroups of SSc were increased significantly (95.0%, p = 0.014, pc < 0.05; 95.5%, p = 0.0088, pc < 0.05, respectively). In contrast, DMB0102 and DMB0103 alleles tended to decrease in diffuse scleroderma and SSc with a-Scl-70, but the decreases were not significant. Association analysis among DMA, DMB, and DRB11502 in Japanese SSc with diffuse scleroderma and SSc with a-Scl-70 indicated that the increase in DMA0101 was not primary, but reflected an increase in HLA DRB1*1502.

摘要

采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对55例日本系统性硬化症（SSc）患者和77名正常日本受试者进行研究，以探讨DMA和DMB等位基因多态性在日本SSc发病机制中的作用。在弥漫性硬皮病的SSc患者中（70.0%对49.4%，p<0.05，校正p值=无显著性差异（NS））以及抗拓扑异构酶I抗体（抗Scl-70）阳性的SSc患者中（68.2%，p<0.05，校正p值=NS），DMB0101等位基因频率升高。在这些SSc亚组中，DMB0101的表型频率显著升高（分别为95.0%，p=0.014，校正p值<0.05；95.5%，p=0.0088，校正p值<0.05）。相比之下，在弥漫性硬皮病和抗Scl-70阳性的SSc患者中，DMB0102和DMB0103等位基因有降低趋势，但降低不显著。对弥漫性硬皮病的日本SSc患者和抗Scl-70阳性的SSc患者中DMA、DMB和DRB11502进行关联分析，结果表明DMA0101的升高并非原发性的，而是反映了HLA DRB1*1502的升高。