eISSN: 1644-4124
ISSN: 1426-3912
Central European Journal of Immunology
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4/2020
vol. 45
 
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abstract:
Review paper

Type 1 diabetes: genes associated with disease development

Marta Klak
1
,
Magdalena Gomółka
1
,
Patrycja Kowalska
1
,
Justyna Cichoń
1
,
Filip Ambrożkiewicz
1, 2
,
Marta Serwańska-Świętek
1
,
Andrzej Berman
1
,
Michał Wszoła
1

  1. Foundation for Research and Science Development, Warsaw, Poland
  2. Department of Genetics, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland
Centr Eur J Immunol 2020; 45 (4): 439-453
DOI: https://doi.org/10.5114/ceji.2020.103386
Online publish date: 2021/02/07
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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.
keywords:

non-coding RNA, genetic factors, type 1 diabetes, genome-wide association studies, linkage, epigenetic factors
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