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[评估选定的HLA DRB1基因等位基因作为波兰东北部人群I型糖尿病的遗传标记]

[Evaluation of selected HLA DRB1 gene alleles as genetic markers of type I diabetes in the population of northeastern Poland].

作者信息

Kretowski A, Kinalska I

机构信息

Kliniki Endokrynologii, Akademia Medyczna w Białymstoku.

出版信息

Pol Merkur Lekarski. 1999 Nov;7(41):208-10.

PMID:10680451
Abstract

Insulin-dependent diabetes mellitus (IDDM) is an autoimmune disease and both environmental and genetic factors play a role in its pathogenesis. The second-generation screen of human genome has confirmed that diabetes mellitus type 1 is a polygenic disease. The identification of the alleles with the highest association with IDDM in the different populations gives the opportunity for better evaluation of the probability of IDDM development in subjects at risk (i.e. first degree relatives of IDDM patients with autoantibodies against B-cells). The aim of the present study was to estimate the frequency of chosen HLA DRB1 gene alleles in patients with insulin-dependent diabetes mellitus and their first degree relatives in comparison with the healthy population in the north-eastern region of Poland. The highest predisposition to IDDM in the population of the north-eastern region of Poland was associated with DRB10401 allele and DRB103-DRB104 haplotype, while the dominant protection was connected with DRB10403 and nonDRB103-nonDR04 haplotype. Our study suggests that the estimation of HLA DRB1*04 allele subtypes serves as a marker for better identification of subjects at risk of IDDM development in the first degree relatives of IDDM patients.

摘要

胰岛素依赖型糖尿病(IDDM)是一种自身免疫性疾病,环境和遗传因素均在其发病机制中起作用。人类基因组的第二代筛查已证实1型糖尿病是一种多基因疾病。在不同人群中鉴定出与IDDM关联度最高的等位基因,为更好地评估有患病风险的个体(即患有针对B细胞自身抗体的IDDM患者的一级亲属)发生IDDM的概率提供了机会。本研究的目的是估计波兰东北部地区胰岛素依赖型糖尿病患者及其一级亲属中所选HLA DRB1基因等位基因的频率,并与健康人群进行比较。波兰东北部地区人群中IDDM的最高易感性与DRB10401等位基因和DRB103 - DRB104单倍型相关,而主要的保护作用与DRB10403和非DRB103 - 非DR04单倍型有关。我们的研究表明,HLA DRB1*04等位基因亚型的估计可作为更好地识别IDDM患者一级亲属中发生IDDM风险个体的标志物。

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