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Yearly Archives: 2019

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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March 16, 2019

Metformin was approved in Canada in 1972, but did not receive approval by the FDA for type 2 diabetes until 1994, this because its sister drug phenformin happened to kill people. Although it took us 22 years to get approval we have certainly used enough in the past 25 years to make up for it. …

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