HLA-DR4 in families with autism
HLA-DR4 in families with autism
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DOI：
10.1016/j.pediatrneurol.2006.06.006
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发表时间：
2006-11-01
影响因子：
3.8
通讯作者：
Zimmerman, Andrew W.
中科院分区：
文献类型：
--
作者：
Lee, Li-Ching;Zachary, Andrea A.;Zimmerman, Andrew W.
自闭症患者的父母，特别是母亲，观察到自身免疫性疾病的频率增加。由于有证据支持自身免疫性疾病与人类白细胞抗原(HLA)系统的特定等位基因之间的关联，我们研究了自闭症家庭中的人类白细胞抗原(HL A)类型和亚型。研究人员对两组家庭进行了研究：从田纳西州东部一个地理区域选择的16个家庭中，男性被诊断为自闭症；在美国所有地区选择的33个家庭中，有多个男性被诊断为自闭症。将这两组中母亲、父亲和孩子的HLA-DR4频率与475名正常的、无关的高加索人的参考系列进行了比较。HLA分型结果显示，不同地理位置的母亲及其儿子的DR4基因频率显著高于正常对照组(优势比=5.54，95%可信区间=1.74~18.67；优势比=4.20，95%可信区间=1.37~13.27)。在美国-ALL地区组和对照组之间，人类白细胞抗原等位基因的分布没有明显差异。这项研究的发现与一种假设是一致的，即产前母婴免疫相互作用可以影响居住在特定地理区域的人群中的胎儿大脑发育。在妊娠过程中，这种免疫相互作用可能涉及到遗传和表观遗传机制中的人类白细胞抗原及其相关基因。(C)2006，Elsevier Inc.保留所有权利。
Autoimmune disorders are observed with increased frequency among parents of individuals with autism, particularly mothers. Because there is evidence supporting an association between autoimmune disorders and specific alleles of the human leukocyte antigen (HLA) system, we examined HLA types and subtypes in families with autism. Two groups were studied: 16 families selected from a geographically defined area in eastern Tennessee have males with a diagnosis of autism; and 33 families selected across all regions in the United States have multiple males having autism diagnosis. The HLA-DR4 frequencies of mothers, fathers, and children in these two groups were compared with a reference series of 475 normal, unrelated Caucasians. Results of HLA typing indicated that mothers and their sons in the geographically defined group had a significantly higher frequency of DR4 than normal control subjects (odds ratio = 5.54, 95% confidence interval = 1.74-18.67 and odds ratio = 4.20, 95% confidence interval = 1.37-13.27, respectively). No significant difference in the distribution of HLA alleles was evident between the United States-all region group and control subjects. Findings of this study are consistent with a hypothesis that prenatal maternal-fetal immune interaction can affect fetal brain development in a population residing in a geographically defined region. Such immune interactions may involve HLA and related genes in both genetic and epigenetic mechanisms during pregnancy. (c) 2006 by Elsevier Inc. All rights reserved.