青少年皮肌炎患儿家庭的免疫遗传学研究。
Immunogenetic studies in families of children with juvenile dermatomyositis.
作者信息
Reed A M, Pachman L M, Hayford J, Ober C
机构信息
Department of Pediatrics, University of North Carolina at Chapel Hill, 27599, USA.
出版信息
J Rheumatol. 1998 May;25(5):1000-2.
OBJECTIVE
We reported an association between juvenile dermatomyositis (JDMS) and the HLA-DQA10501 allele. The purpose of this study was to determine whether there is evidence for linkage between JDMS and the DQA10501 allele in JDMS families.
METHODS
The study population included 18 unrelated patients with JDMS, their parents, and 49 unaffected siblings. Using molecular genetic techniques, we studied the HLA genes, DRB1, DQA1, and tumor necrosis factor-alpha.
RESULTS
Using the transmission disequilibrium test, we confirmed our earlier observations that the HLA-DQA1*0501 allele confers primary susceptibility to JDMS.
CONCLUSION
DQA1*0501 confers genetic risk for JDMS; we cannot exclude the effects of alleles at other linked loci that were not studied or interactive effects between DQA1 alleles and alleles at other loci.
目的
我们报道了青少年皮肌炎（JDMS）与HLA - DQA10501等位基因之间的关联。本研究的目的是确定在JDMS家族中是否有证据表明JDMS与DQA10501等位基因之间存在连锁关系。
方法
研究人群包括18例无亲缘关系的JDMS患者、他们的父母以及49名未受影响的兄弟姐妹。使用分子遗传学技术，我们研究了HLA基因、DRB1、DQA1和肿瘤坏死因子-α。
结果
使用传递不平衡检验，我们证实了我们早期的观察结果，即HLA - DQA1*0501等位基因赋予JDMS主要易感性。
结论
DQA1*0501赋予JDMS遗传风险；我们不能排除未研究的其他连锁位点的等位基因的影响或DQA1等位基因与其他位点的等位基因之间的相互作用。
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