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青少年皮肌炎患儿主要组织相容性复合体基因的分子遗传学研究:与HLA - DQA1 * 0501相关的风险增加

Molecular genetic studies of major histocompatibility complex genes in children with juvenile dermatomyositis: increased risk associated with HLA-DQA1 *0501.

作者信息

Reed A M, Pachman L, Ober C

机构信息

Division of Immunology/Rheumatology, Children's Memorial Hospital, Northwestern University Medical School, Chicago, Illinois.

出版信息

Hum Immunol. 1991 Dec;32(4):235-40. doi: 10.1016/0198-8859(91)90085-n.

DOI:10.1016/0198-8859(91)90085-n
PMID:1783570
Abstract

Juvenile dermatomyositis (JDMS) is an inflammatory disease associated with HLA-DR3. We therefore undertook molecular genetic studies of HLA region genes to determine whether HLA-DR3 itself confers susceptibility to JDMS or whether susceptibility is conferred by alleles in linkage disequilibrium with HLA-DR3. Our results indicate that JDMS is associated with the HLA-DQA1 allele DQA1 *0501 on non-DR3 haplotypes in Caucasian JDMS. Furthermore, the reported of association between the C4A gene deletion and JDMS is likely due to linkage disequilibrium with HLA-DR3.

摘要

青少年皮肌炎(JDMS)是一种与HLA - DR3相关的炎症性疾病。因此,我们对HLA区域基因进行了分子遗传学研究,以确定HLA - DR3本身是否赋予对JDMS的易感性,或者易感性是否由与HLA - DR3处于连锁不平衡状态的等位基因赋予。我们的结果表明,在白种人JDMS患者的非DR3单倍型上,JDMS与HLA - DQA1等位基因DQA1 * 0501相关。此外,报道的C4A基因缺失与JDMS之间的关联可能是由于与HLA - DR3的连锁不平衡。

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