New Type 1 Diabetes Genetic Associations Discovered


The largest ever genome-wide association study of those with type 1 diabetes has discovered three new genetic anomalies associated with the disease.

The largest ever genetic analysis of those with type 1 diabetes (T1D) has discovered three new genetic anomalies associated with the disease. The results of the analysis were published in the September edition of PLoS Genetics.

Genome-wide association studies such as this one look at genetic information for large numbers of people with a given condition as well as control subjects to detect genetic variations that can be statistically associated with the condition. Such studies look at single-nucleotide polymorphisms (SNPs), points in the genetic code that commonly vary and frequently indicate the presence of significant genetic mutations.

In the current study, researchers combined genetic data from six large publicly available datasets that included data from 9,934 people with T1D and 16,956 controls. In addition to validating a number of genetic variations previously associated with T1D, the study discovered three new SNPs associated with the condition. The new SNPs are of particular interest because they are in areas of the genome involved in protein-protein interaction, inflammation, and cell signaling activity.

“Our study found SNPs that we had not expected to have any connection to type 1 diabetes,” said lead author Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at The Children’s Hospital of Philadelphia, in a press release. “The strongest association among the three SNPs was in the region of the LMO7 gene on chromosome 13. We previously associated another member of the LMO gene family with the childhood cancer neuroblastoma. This gene family plays an important role in protein-protein interactions, but it would not have occurred to anyone that it may be active in type 1 diabetes.”

Further study will be necessary to uncover the actual genetic mutations that may play a role in causing T1D, which researchers hope will lead to the discovery of new treatments for the disease.


Large Meta-analysis Finds New Genes for Type 1 Diabetes [Press Release]

A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci [PLoS Genetics]

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