Function of Type 1 Diabetes Genes

'Type 1 diabetes (T1D) is characterized by autoimmune destruction of insulin-producing pancreatic beta cells.  It has a strong genetic basis that is modified by environmental factors.  T1D is a “polygenic” disease; it arises from the interaction of variations in multiple genes. Many studies have been conducted to identify genes for T1D. Just a few years ago, only five genes involved in the disease were known. Now approximately 50 genes or gene regions have been identified. 
(...)
Recently, the application of genome-wide SNP typing technology to large sample sets by The Type 1 Diabetes Genetics Consortium (T1DGC) and its collaborators and other investigators, and comparisons with results from other immune-mediated diseases, have provided convincing support for approximately 50 genes or gene regions that significantly affect the risk T1D.  Although more than 70% of heritability has been identified, work is already underway to identify the missing heritability.  The remaining missing heritability for T1D is likely to be explained by as yet unmapped common variants, rare variants, structural polymorphisms, and gene-gene and/or gene-environmental interactions, in which we can expect epigenetic effects to play a role. Thus additional work is needed to identify causal genes and potential causal variants for further differentiation in allele-specific expression and genotype-to-phenotype studies. The examination of the T1D genes and their pathways may reveal the earliest pathogenic mechanisms that result in the engagement of the innate and adaptive immune systems to produce massive β-cell destruction and clinical disease and provide leads for new therapeutic targets.
(...)
It has been observed that some of the genes that predispose to T1D are common with other autoimmune diseases (e.g. PTPN22) and these could lead to generalized autoimmunity whereas others may be specific to T1D. Unraveling of the mechanisms whereby changes in the function or regulation of these genes alter T1D risk is likely to provide crucial new insights into disease pathogenesis. In addition, there are many human T1D regions for which there is no compelling functional candidate gene (www.t1dbase.org) and thus additional work is also needed to identify causal genes and potential causal variants and elucidate the mechanisms whereby changes in the function or regulation of these genes are likely to provide crucial new insights into disease pathogenesis. The discovery of the genes would be relevant to developing a predictive strategy for individuals who may develop diabetes as well as new targets for therapy. In the future, genetic testing may lead to personalized treatment regimens by identifying the most appropriate class of drugs for particular patients.'


Este texto foi retirado de um anúncio para candidaturas a um fundo que patrocina a investigação nesta área. Um dia destes ficamos a saber todos os 'porquês'!! Leia tudo aqui.