[1型糖尿病患者突尼斯一级亲属中的易感性标志物]

[Susceptibility markers in Tunisian first-degree relatives of patients with type 1 diabetes].

作者信息

Laadhar L, Gassara A, Mahfoudh N, Ben Hadj hmida Y, Kamoun T, Ben Ayed M, Rekik N, Mahfoudh A, Rebai A, Makni H, Abid M, Hachicha M, Masmoudi H

机构信息

Laboratoire d'immunologie, EPS Habib-Bourguiba, Sfax, Tunisie.

出版信息

Ann Endocrinol (Paris). 2007 Jun;68(2-3):181-5. doi: 10.1016/j.ando.2007.01.021. Epub 2007 May 21.

DOI:10.1016/j.ando.2007.01.021

PMID:17512892

Abstract

To identify the profile of anti-pancreas autoantibodies and elucidate the HLA DRB1, DQB1 polymorphism in Tunisian first-degree relatives of patients with type 1 diabetes, we recruited 96 relatives from 21 families with at least one diabetic child. Islet cell antibodies (ICA) were detected by immunofluorescence on monkey pancreas; glutamate decarboxylase (GADA), IA2 (IA2-A) and insulin (IAA) antibodies were measured by RIA. HLA class II DRB1 and DQB1 alleles were typed by PCR-SSP. ICA, GADA, IA2-A and IAA were found in respectively 11.5, 4.2, 5.2 and 8.3% of relatives. Twenty-two out of 96 had at least one antibody and 20 out of these 22 had a susceptibility allele (DRB103, DRB104, DQB102 or DQB10302) with or without protective allele (DRB111, DRB113, DRB115 or DQB106). All of the 5 relatives having 2 autoantibodies or more carried the DRB104-DQB10302 susceptible haplotype. In conclusion, this observational study confirms in a Tunisian population known epidemiological data and demonstrates the usefulness of follow-up to determine the predictive value of studied markers.

摘要

为了确定抗胰腺自身抗体的特征，并阐明1型糖尿病患者突尼斯一级亲属中HLA DRB1、DQB1基因多态性，我们从21个至少有一个糖尿病儿童的家庭中招募了96名亲属。通过对猴胰腺进行免疫荧光检测胰岛细胞抗体（ICA）；采用放射免疫分析法测定谷氨酸脱羧酶（GADA）、IA2（IA2 - A）和胰岛素（IAA）抗体。通过聚合酶链反应 - 序列特异性引物（PCR - SSP）对HLA II类DRB1和DQB1等位基因进行分型。在亲属中，ICA、GADA、IA2 - A和IAA的检出率分别为11.5%、4.2%、5.2%和8.3%。96名亲属中有22名至少有一种抗体，这22名中有20名携带易感等位基因（DRB103、DRB104、DQB102或DQB10302），有或没有保护等位基因（DRB111、DRB113、DRB115或DQB106）。所有5名有两种或更多自身抗体的亲属都携带DRB104 - DQB10302易感单倍型。总之，这项观察性研究在突尼斯人群中证实了已知的流行病学数据，并证明了随访对于确定所研究标志物预测价值的有用性。