The landmark study of type 1 diabetes so far is the largest genomic analysis to find the cause...

In a paper recently published in the journal Nature, researchers at the University of California San Diego (UCSD) School of Medicine mapped out the basis of genetic variation that leads to the onset of type 1 diabetes at the cellular level.

This study provides supporting evidence for the role of exocrine pancreas in the pathogenesis of type 1 diabetes, confirming that genetic variation in specific cell types is an important factor in the pathogenesis of type 1 diabetes; at the same time, it emphasizes genome-wide association studies (GWAS) and The two methods of single-cell epigenomics help to understand the cellular origin of complex diseases.

Type 1 diabetes is a chronic autoimmune disease.

Type 1 diabetes is less common than type 2 diabetes, but its prevalence is rising, and there is currently a lack of methods to prevent the onset of type 1 diabetes for high-risk groups.

Little is known about the pathogenesis of type 1 diabetes, including how autoimmunity is triggered.

According to reports, this research team conducted the largest type 1 diabetes GWAS to date, combined with single-cell epigenomics (single-cell epigenomics) analysis methods.

▲Some genes regulated by genetic variation have special pancreatic exocrine function, which affects the risk of type 1 diabetes (picture source: reference [1])

"By combining GWAS with the epigenome atlas, we were able to determine the function of genetic variants related to type 1 diabetes in different types of cells, and found that pancreatic exocrine cells have a predictable causal role in the disease, and then verify it through experiments.

Professor Maike Sander, one of the authors of this study, said that this is a "milestone" study.

Reference materials:

[1] Chiou, J.