Abstract
Type 1 Diabetes (T1D) is a chronic multifactorial disease with a strong genetic component, which, through interactions with specific environmental factors, triggers disease onset. T1D typically manifests in early to mid childhood through the autoimmune destruction of pancreatic β cells resulting in a lack of insulin production. Historically, prior to genome-wide association studies (GWAS), six loci in the genome were fully established to be associated with T1D. With the advent of high-throughput single nucleotide polymorphism (SNP) genotyping array technologies, enabling investigators to perform high-density GWAS, many additional T1D susceptibility genes have been discovered. Indeed, recent meta-analyses of multiple datasets from independent investigators have brought the tally of well-validated T1D disease genes to almost 60. In this mini-review, we address recent advances in the genetics of T1D and provide an update on the latest susceptibility loci added to the list of genes involved in the pathogenesis of T1D.
Highlights
Type 1 Diabetes (T1D) is a chronic multifactorial disease with a strong genetic component
The human leukocyte antigen (HLA) region on chromosome 6p21 was the first known candidate to be strongly associated with T1D in the 1970s [8,9,10]
In addition to finding the “usual” suspects, including an impressive 392 single nucleotide polymorphism (SNP) capturing the very strong association across the major histocompatibility complex (MHC), we identified significant association with variation at the KIAA0350 gene, which we replicated in an additional cohort
Summary
Type 1 Diabetes (T1D) is a chronic multifactorial disease with a strong genetic component. It arises as a consequence of autoimmune destruction of pancreatic β-cells, resulting in insufficient insulin production. The prevalence of diabetes is increasing worldwide [1]. T1D represents approximately 10% of these patients and is most prevalent in populations of European ancestry [3,4]. While cumulative evidence supports a strong genetic component associated with T1D, epidemiological data show wide differences in geographic prevalence with populations of European ancestry having the highest presentation rate. Studies in human and animal models have shown that both innate and adaptive immune responses participate in disease pathogenesis, possibly reflecting the multifactorial nature of this autoimmune disorder. Including recent meta-analyses and discuss the latest associated regions added to the growing repertoire of gene networks predisposing to T1D
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