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International Textbook of Diabetes Mellitus, 4th Ed., Excerpt #170: Molecular Genetics of Type 1 Diabetes Part 7

Clinical utility of T1DM susceptibility genes: One of the goals of genetic studies of complex disease is to identify a profile of susceptibility variants that can be used to predict an individual’s risk of developing a given disease. The long prodrome for T1DM, characterized by progressive loss of beta-cell mass, provides an attractive opportunity for intervention to prevent disease development if “at-risk” individuals can be identified. Currently the best markers of disease risk are a positive family history of T1DM and the presence of autoantibodies to islet cell proteins. Over 90% of T1DM patients have no affected relatives, however, so effective preventive efforts will need to target the general population. Unfortunately screening such huge numbers of individuals for islet autoantibodies is logistically unfeasible, particularly given the need for repeated annual testing for those with a negative result. Genetic markers are therefore needed to stratify risk in the general population,

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International Textbook of Diabetes Mellitus, 4th Ed., Excerpt #169: Molecular Genetics of Type 1 Diabetes Part 6

Other genetic markers—the “missing heritability": Collectively the confirmed T1DM risk loci account for approximately 70% of disease heritability, with around 40–50% being attributed to the HLA genes. These figures are well in excess of the 10–20% of heritability of other complex diseases that can be explained by genetic factors. Experience from GWAS suggests that overall disease risk is likely to be influenced by many genes, most having a weak biologic effect. This may be due to the subtle effects of risk alleles on gene function or the modest contribution of individual gene products to the biologic pathways involved in disease pathogenesis. None of the confirmed T1DM risk variants have complete penetrance and are therefore neither necessary nor sufficient for disease to develop. This makes it difficult to use genetic profiling to predict disease risk as T1DM can develop in the absence of susceptibility variants and does not always occur in subjects with known risk markers.

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