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首页> 外文期刊>International journal of immunogenetics >HLA-G 14-bp polymorphism affects the age of onset in Type I Diabetes Mellitus
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HLA-G 14-bp polymorphism affects the age of onset in Type I Diabetes Mellitus

机译：HLA-G 14 bp多态性影响I型糖尿病的发病年龄

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摘要

Type I diabetes mellitus (T1DM) is an organ-specific autoimmune disorder affecting the insulin-producing pancreatic cells. T1DM genetic association studies have so far revealed the involvement of more than 40 loci, with particularly strong associations for the human leucocyte antigens (HLA). Further to the well-established HLA class II associations, the immunomodulatory elements in the telomeric major histocompatibility complex locus, specifically nonclassical HLA class I, were also associated with T1DM, either in conferring susceptibility or by contributing to the overall pathogenesis. This study investigates the involvement of a 14-bp deletion polymorphism (rs371194629) at the 3' untranslated region of HLA-G in the context of T1DM and age of onset. The frequency of the polymorphism was determined in unrelated T1DM Cypriot patients and findings that emerge from this study show a strong association between the HLA-G 14-bp polymorphism and T1DM with respect to the age of onset. Specifically, the deletion/deletion (DEL/DEL) genotype was found to be associated with an early age of onset (P = 0.001), while the presence of the insertion allele (INS) was associated to a later age of onset (P = 0.0001), portraying a possible dominant effect over the deletion allele, a role in delaying disease onset and an overall involvement of HLA-G in the pathogenesis of type I diabetes mellitus.
机译：I型糖尿病（T1DM）是一种器官特异性自身免疫性疾病，会影响产生胰岛素的胰腺细胞。到目前为止，T1DM遗传关联研究显示涉及40多个基因座，其中与人类白细胞抗原（HLA）的关联特别强。除了建立良好的II类HLA关联之外，端粒的主要组织相容性复合体位点（特别是非经典的HLA I类）中的免疫调节元件也与T1DM相关，或者是在赋予易感性方面，或者是通过促成整体发病机理。这项研究调查T1DM和发病年龄的背景下HLA-G 3'非翻译区14 bp缺失多态性（rs371194629）的参与。在不相关的T1DM塞浦路斯患者中确定了多态性的频率，这项研究显示的结果表明，HLA-G 14-bp多态性与T1DM在发病年龄方面密切相关。具体而言，发现缺失/缺失（DEL / DEL）基因型与发病年龄较早（P = 0.001）相关，而插入等位基因（INS）的存在与发病较晚年龄（P = 0.001）相关。 0.0001），描述了可能对缺失等位基因起主导作用，延迟疾病发作的作用以及HLA-G在I型糖尿病发病机理中的全面参与。

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