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Type 1 diabetes: genes associated with disease development
Central European Journal of Immunology ( IF 1.5 ) Pub Date : 2021-02-07 , DOI: 10.5114/ceji.2020.103386
Marta Klak , Magdalena Gomółka , Patrycja Kowalska , Justyna Cichoń , Filip Ambrożkiewicz , Marta Serwańska-Świętek , Andrzej Berman , Michał Wszoła

Type 1 diabetes (T1D) is the third most common autoimmune disease which develops due to genetic and environmental risk factors. Based on the World Health Organization (WHO) report from 2014

the number of people suffering from all types of diabetes ascended to 422 million, compared to 108 million in 1980. It was calculated that this number will double by the end of 2030. In 2015 American Diabetes Association (ADA) announced that 30.3 million Americans (that is 9.4% of the overall population) had diabetes of which only approximately 1.25 million had T1D. Nowadays, T1D represents roughly 10% of adult diabetes cases total. Multiple genetic abnormalities at different loci have been found to contribute to type 1 diabetes development. The analysis of genome-wide association studies (GWAS) of T1D has identified over 50 susceptible regions (and genes within these regions). Many of these regions are defined by single nucleotide polymorphisms (SNPs) but molecular mechanisms through which they increase or lower the risk of diabetes remain unknown. Genetic factors (in existence since birth) can be detected long before the emergence of immunological or clinical markers. Therefore, a comprehensive understanding of the multiple genetic factors underlying T1D is extremely important for further clinical trials and development of personalized medicine for diabetic patients. We present an overview of current studies and information about regions in the human genome associated with T1D. Moreover, we also put forward information about epigenetic modifications, non-coding RNAs and environmental factors involved in T1D development and onset.


中文翻译:

1型糖尿病:与疾病发展相关的基因

1型糖尿病(T1D)是第三大最常见的自身免疫性疾病,由于遗传和环境风险因素而发展。根据世界卫生组织(WHO)2014年的报告

患有各种糖尿病的人数从1980年的1.08亿增加到4.22亿。据计算,到2030年底,这个数字将翻一番。2015年,美国糖尿病协会(ADA)宣布,有3030万美国人( (占总人口的9.4%)患有糖尿病,其中只有约125万人患有T1D。如今,T1D约占成人糖尿病总数的10%。已发现在不同基因座的多个遗传异常会导致1型糖尿病的发展。T1D的全基因组关联研究(GWAS)的分析已确定了50多个易感区域(以及这些区域内的基因)。这些区域中的许多区域都由单核苷酸多态性(SNP)定义,但是增加或降低糖尿病风险的分子机制仍然未知。遗传因素(自出生以来就存在)可以在免疫学或临床标记出现之前很久就被发现。因此,全面了解T1D的多种遗传因素对于进一步的临床试验和糖尿病患者个性化药物的开发极为重要。我们提供了当前研究的概述和有关与T1D相关的人类基因组区域的信息。此外,我们还提出了有关表观遗传修饰,非编码RNA和参与T1D发育和发作的环境因素的信息。遗传因素(自出生以来就存在)可以在免疫学或临床标记出现之前很久就被发现。因此,全面了解T1D的多种遗传因素对于进一步的临床试验和糖尿病患者个性化药物的开发极为重要。我们提供了当前研究的概述和有关与T1D相关的人类基因组区域的信息。此外,我们还提出了有关表观遗传修饰,非编码RNA和参与T1D发育和发作的环境因素的信息。遗传因素(自出生以来就存在)可以在免疫学或临床标记出现之前很久就被发现。因此,全面了解T1D的多种遗传因素对于进一步的临床试验和糖尿病患者个性化药物的开发极为重要。我们提供了当前研究的概述和有关与T1D相关的人类基因组区域的信息。此外,我们还提出了有关表观遗传修饰,非编码RNA和参与T1D发育和发作的环境因素的信息。我们提供了当前研究的概述和有关与T1D相关的人类基因组区域的信息。此外,我们还提出了有关表观遗传修饰,非编码RNA和参与T1D发育和发作的环境因素的信息。我们提供了当前研究的概述和有关与T1D相关的人类基因组区域的信息。此外,我们还提出了有关表观遗传修饰,非编码RNA和参与T1D发育和发作的环境因素的信息。
更新日期:2021-02-11
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