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Be Aware, Proactive to Manage PCOS

Woman, 43 years of age, PCOS, prediabetes, BMI 26, B/P 130/70, A1C 5.5%, Lipids, TC-156, HDL 52, Trig 76, LDL 84, mother of 3 children, visited today. She reports that her mother had PCOS, so was very carefully watching her as a child and adolescent hoping to prevent her from developing the complications of PCOS, such as infertility, obesity, type 2 diabetes, cardiovascular disease, and/or cancer later in life.

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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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