The findings add to knowledge of gene networks involved in the origin of this complex disorder, in which patients depend on frequent insulin injections to control their blood sugar levels.
“Genome-wide association studies, as we used here, have been extremely powerful in identifying gene locations involved in the pathogenesis of complex, common diseases,” said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children’s Hospital of Philadelphia. “The larger the cohort used, the more discoveries we can make, and the more we find intriguing biological pathways offering insight into causes of disease.”
The study appears online today in Public Library of Science Genetics (PLoS Genetics).
The genome-wide association study (GWAS), in which Hakonarson collaborated with Constantine Polychronakos, M.D., director of Pediatric Endocrinology at McGill University, was a meta-analysis, investigating combined DNA data from six large publicly available datasets of type 1 diabetes. The six studies included data from approximately 10,000 individuals with the disease and 17,000 control subjects. The databases contained single nucleotide polymorphisms (SNPs)-single-base changes in DNA sequence that serve as signposts for gene mutations associated with them.
SNPs are not disease-causing mutations, but they reside in gene regions associated with the disease, and set the stage for more detailed sequencing studies to pinpoint causative mutations. Previous studies by Hakonarson and colleagues over the past four years had already discovered SNPs related to type 1 diabetes.
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