Diabetes is a common disease characterized by the disruption of glucose homeostasis that results when insulin, the hormone that converts glucose from the blood into energy used by the body’s cellular machinery, is absent (through autoimmune destruction of the pancreatic β-cells in type 1 diabetes) or inefficient (increased insulin resistance or reduced insulin sensitivity in type 2 diabetes). There are multiple pathways to developing diabetes, yet practically all involve an underlying genetic etiology with an environmental trigger. The extent of knowledge of genetic factors and environmental factors differs across the forms of diabetes. In the case of type 1 diabetes, the concordance in monozygotic twins (genetically identical) is ∼50%, with familial aggregation and modeling suggesting a major impact of genetics on risk (1). The genetic contribution to type 1 diabetes is well described, with HLA genes accounting for one-half of the genetic risk (2) and ∼50 other sites in the genome contributing the majority of the remaining genetic risk (3). The familial (heritable) contribution to type 2 diabetes has also been estimated through twin studies, with monozygotic twin concordance rising from ∼50% in middle age to nearly 80% later in life (4). Complexity in assessment of the contribution of genetic factors to type 2 diabetes arises from the impact of other familial and behavioral factors that are associated with risk, including obesity, reduced physical activity, and dietary habits. Although the overall risk of type 2 diabetes appears “more heritable” than type 1 diabetes, the estimated effects of ∼100 sites across the genome account for ∼10% of the risk (5). Similar investigations have shown other types of diabetes to be heritable, including neonatal diabetes (6), maturity-onset diabetes of the young (MODY) (7), gestational diabetes mellitus (8), and latent autoimmune diabetes in adults (LADA) (9), and numerous studies have shown diabetes complications …

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糖尿病护理遗传学的承诺与实践：雾的显现揭示了HNF1B基因复杂性的领域

糖尿病是一种常见的疾病，其特征是缺乏葡萄糖稳态，这是由于胰岛素（一种将血液中的葡萄糖转化为人体细胞机械所消耗的能量的激素）缺乏（通过对1型糖尿病的胰岛β细胞进行自身免疫破坏而引起的）而导致的。 ）或效率低下（在2型糖尿病中，胰岛素抵抗增加或胰岛素敏感性降低）。发生糖尿病的途径多种多样，但实际上都涉及具有环境触发作用的潜在遗传病因。遗传因素和环境因素的知识程度因糖尿病的形式而异。对于1型糖尿病，单卵双胞胎（遗传上相同）的一致性约为50％，家族聚集和建模表明遗传学对风险有重大影响（1）。对1型糖尿病的遗传贡献已得到充分描述，HLA基因占遗传风险的一半（2），而基因组中约50个其他位点占了其余大部分遗传风险（3）。通过双胞胎研究还估计了家族对2型糖尿病的贡献（遗传），单卵双胞胎的一致性从中年的约50％上升到生命后期的近80％（4）。遗传因素对2型糖尿病的贡献评估中的复杂性来自与风险相关的其他家族和行为因素的影响，这些因素包括肥胖，体育活动减少和饮食习惯。尽管2型糖尿病的总体风险似乎比1型糖尿病“更可遗传”，但估计整个基因组中约100个位点的影响约占该风险的10％（5）。