Miyagawa S, Shinohara K, Fujita T, Kidoguchi K, Fukumoto T, Hashimoto K, Yoshioka A, Shirai T
Department of Dermatology, Nara Medical University, Japan.
J Am Acad Dermatol. 1997 Feb;36(2 Pt 1):186-90. doi: 10.1016/s0190-9622(97)70278-0.
Neonatal lupus erythematosus (NLE) is a syndrome characterized by dermatitis and congenital heart block. The disease is mostly associated with transplacental passage of maternal anti-Ro(SS-A) or anti-La(SS-B) antibodies. Maternal HLA-DR3 and DQ2 alleles are associated with NLE in white and North American black populations.
We sought evidence of a potential genetic disposition to NLE in mothers with a relatively homogeneous ethnic background.
Class II human major histocompatibility complex HLA-DRB1, DQA1, DQB1, and DPB1 alleles were determined by polymerase chain reaction-restriction fragment length polymorphism in anti-Ro(SS-A)-positive mothers as well as in infants from seven Japanese families with siblings concordant or discordant for disease expression of NLE.
All seven mothers had two or three DQ alleles of DQA1 and DQB1 possessing specific amino acid residues, which are reportedly associated with anti-Ro(SS-A) autoantibody response in white and black populations. There was no class II HLA profile that distinguished disease manifestations of NLE in infants.
The HLA class II allele associations with anti-Ro(SS-A) autoantibodies that have been noted in other ethnic groups were also found in Japanese anti-Ro(SS-A)-positive mothers whose infants had NLE, suggesting shared susceptibility factors across racial barriers in maternal predisposition to Ro(SS-A) autoimmune response.
新生儿红斑狼疮（NLE）是一种以皮炎和先天性心脏传导阻滞为特征的综合征。该疾病大多与母体抗Ro（SS - A）或抗La（SS - B）抗体经胎盘传递有关。母体HLA - DR3和DQ2等位基因在白种人和北美黑人人群中与NLE相关。
我们在种族背景相对单一的母亲中寻找NLE潜在遗传易感性的证据。
采用聚合酶链反应 - 限制性片段长度多态性方法，对7个有NLE疾病表现一致或不一致的同胞的日本家庭中抗Ro（SS - A）阳性母亲及其婴儿检测人类主要组织相容性复合体II类HLA - DRB1、DQA1、DQB1和DPB1等位基因。
所有7位母亲均有两个或三个DQA1和DQB1的DQ等位基因，这些等位基因具有特定氨基酸残基，据报道在白种人和黑种人群中与抗Ro（SS - A）自身抗体反应相关。没有II类HLA图谱能区分婴儿NLE的疾病表现。
在婴儿患有NLE的日本抗Ro（SS - A）阳性母亲中，也发现了与其他种族中所观察到的抗Ro（SS - A）自身抗体相关的HLA II类等位基因，这表明在母体对Ro（SS - A）自身免疫反应的易感性方面，种族间存在共同的易感因素。
