系统性红斑狼疮的家族与双胞胎研究

Family and twin studies in systemic lupus erythematosus.

作者信息

Grennan D M, Parfitt A, Manolios N, Huang Q, Hyland V, Dunckley H, Doran T, Gatenby P, Badcock C

机构信息

University of Sydney's Department of Rheumatology, Royal North Shore Hospital, St. Leonards, Australia.

出版信息

Dis Markers. 1997 Apr;13(2):93-8.

PMID:9160184

Abstract

We have estimated how much of the total genetic predisposition to SLE may be attributable to genes outside the HLA region by comparing figures for concordance of SLE in monozygotic twins with those for concordance in HLA identical siblings in Australia. None of six dizygotic co-twins of white Australian SLE probands was concordant for SLE. One of four (25%) monozygotic co-twins of white Australian SLE probands was concordant for SLE which when added to previously published figures for Caucasoid populations gives an overall concordance rate for SLE in monozygotic twins of 25%. None of 18 HLA identical, same sex siblings of SLE probands, had definite SLE by the study criteria (i.e. less than 6%). The comparison of these figures shows that most of the genetic predisposition to SLE is attributable to genes outside the HLA region.

摘要

通过比较澳大利亚单卵双胞胎中系统性红斑狼疮（SLE）的一致性数据与HLA相同的同胞中SLE的一致性数据，我们估算了SLE的总遗传易感性中有多少可归因于HLA区域以外的基因。澳大利亚白人SLE先证者的六对异卵双胞胎中，没有一对SLE是一致的。澳大利亚白人SLE先证者的四对单卵双胞胎中有一对（25%）SLE是一致的，将其与之前发表的高加索人群数据相加，得出单卵双胞胎中SLE的总体一致率为25%。根据研究标准，SLE先证者的18对HLA相同、同性别的同胞中，没有一人患有明确的SLE（即低于6%）。这些数据的比较表明，SLE的大多数遗传易感性可归因于HLA区域以外的基因。