Principal Investigator: Dr Simranjeet Kaur
Steno Diabetes Center Copenhagen, Gentofte, DenmarkTags: 48498, HLA, Imputation, Meta-analysis, risk variants, Type 1 diabetes
Type 1 Diabetes (T1D) is a chronic autoimmune disease resulting from immune-mediated attack on insulin producing beta-cells in pancreatic islets. T1D has a strong genetic component and siblings of patients have a higher risk (6%) for developing type 1 diabetes compared to the general population (0.4%). Detailed investigation of the genomes of a very large population has identified more than 50 T1D risk areas of the genome. Several specific small variations within the gene coding for the human leukocyte antigen (HLA) on chromosome 6, contribute to an overall genetic risk of 30-50%.
There are a range of classical methods for directly determining the genomic sequence of the HLA region, however, these classical methods are time consuming, expensive and not practical for studies including larger cohorts. More accurate genomic sequence estimates and determination of amino-acid of variation in amino acid has recently been developed based on previously very detailed sequenced populations. This study aims to stratify T1D patients by determining the variations within the HLA region based on these new methods in the UK-Biobank cohort. In future, early screening and diagnosis of high-risk individuals based on the detailed sequencing of the HLA region might prevent T1D and/or diabetes-related complications.