患有乳糜泻儿童家庭中的HLA I类单倍型

HLA class I haplotypes in families of children with coeliac disease.

作者信息

Kedzierska A, Turowski G

机构信息

Independent Laboratory of Clinical Immunology, Faculty of Medicine, Collegium Medicum, Jagiellonian University, ul. Grzegórzecka 16, 31-531 Cracow, Poland.

出版信息

Med Sci Monit. 2000 Mar-Apr;6(2):336-41.

PMID:11208333

Abstract

The purpose of the study was the analysis of HLA-AB haplotypes frequency in the families of children with coeliac disease. Haplotypes present in 46 probands' families including 69 affected children, 49 healthy siblings and 91 parents were verified. HLA antigens were typed by Terasaki and McClelland's routine two-step-microcytotoxic assay in NIH modification. Among 138 haplotypes, the following were significantly more frequent in affected children: HLA-A1-B8 (3116 x 10(4)), HLA-A3-B8 (290 x 10(4)) and HLA-A2-B8 (217 x 10(4)). Total frequency of haplotypes including HLA-B8 antigen in comparison to control population equalled 3986 x 10(4) vs. 763 x 10(4). HLA-A1-B8 haplotype frequency was twice lower in probands' healthy siblings and parents, equalling 1837 x 10(4) and 1868 x 10(4), respectively. Highly significantly more frequent HLA-A1-B8 haplotype found in probands' families may indicate the correlation between inherited gene products and increased risk of coeliac disease incidence.

摘要

该研究的目的是分析患有乳糜泻儿童家庭中HLA - AB单倍型的频率。对46名先证者家庭中的单倍型进行了验证，这些家庭包括69名患病儿童、49名健康兄弟姐妹和91名父母。采用经美国国立卫生研究院（NIH）改良的Terasaki和McClelland常规两步微量细胞毒性试验对HLA抗原进行分型。在138个单倍型中，以下单倍型在患病儿童中出现的频率显著更高：HLA - A1 - B8（3116×10⁻⁴）、HLA - A3 - B8（290×10⁻⁴）和HLA - A2 - B8（217×10⁻⁴）。与对照人群相比，包含HLA - B8抗原的单倍型总频率为3986×10⁻⁴，而对照人群为763×10⁻⁴。先证者的健康兄弟姐妹和父母中HLA - A1 - B8单倍型频率分别低两倍，分别为1837×10⁻⁴和1868×10⁻⁴。在先证者家庭中发现的HLA - A1 - B8单倍型频率显著更高，这可能表明遗传基因产物与乳糜泻发病风险增加之间存在关联。