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Genetic Insights from a Large-Scale Exome Sequencing Study of Type 1 Diabetesin Ukraine

Biochemical/Metabolic and Therapeutics
  • Primary Categories:
    • Population Genetics
  • Secondary Categories:
    • Population Genetics
Introduction:
Type 1 Diabetes (T1D) genetic research in Europe has largely focused on Western

populations, leaving Eastern European populations underrepresented. Rare, population-

specific genetic variants that may significantly influence T1D risk are often overlooked

due to their low frequency in broader analyses. Our study represents the largest exome

sequencing and genome-wide genotyping initiative focused on T1D in Europe, providing

critical insights into the genetic landscape of T1D and other forms of diabetes.

Methods:
We established a collaborative network of scientists and physicians across Ukraine and

neighboring countries, which has already collected samples from 4,000 Ukrainian T1D patients and 4,000 matched controls. Exome sequencing was conducted on these samples, and a

genome-wide association study (GWAS) was performed to identify novel genetic factors

influencing T1D development. Variants associated with Maturity-Onset Diabetes of the

Young (MODY) were also screened.

Results:
Our analysis confirmed the significant role of HLA loci (e.g., HLA-DQA1, HLA-G) in T1D incidence (p < 5×10⁻⁵⁰). Importantly, we identified several novel loci, including DTX4, that are significantly associated with T1D risk in the studied population from Eastern Europe. Additionally, we uncovered several novel MODY-related variants, prompting further clinical genetic testing. This led not only to the reclassification of many cases previously misdiagnosed as T1D but also to changes in management, which resulted in significant positive responses. These findings underscore the critical need for genetic research and testing to ensure accurate diagnosis and treatment.

Conclusion:
This study provides new insights into the genetic architecture of T1D and MODY in

Eastern Europe, emphasizing the importance of including diverse populations in genetic

research to enhance disease prediction, diagnosis, and personalized treatment

strategies. Our work is conducted under challenging conditions due to ongoing war

and demonstrates the feasibility of large-scale genetic studies in resource-limited

settings, offering valuable lessons for similar initiatives. We aim to expand the study to

include whole-genome genotypes, exomes, and matching clinical phenotypes of 10,000

T1D patients and 10,000 matched controls from Ukraine and neighboring countries. The

genetic data collected will be made available as an open-access resource on the

“Genomics of T1D in Ukraine” web portal and in European Nucleotide Archive, advocating collaboration and supporting global efforts in T1D research.

Agenda

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