糖尿病病的遗传和表观遗传背景
Niina Sandholm1,2,3, Emma H Dahlström1,2,3, Per-Henrik Groop1,2,3,4
1Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
Frontiers in endocrinology
|June 16, 2023
概括
糖尿病病 (DKD) 涉及遗传和表观遗传因素. 研究正在使用先进的遗传研究来识别这些遗传风险,以了解DKD的发展.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
背景情况:
- 糖尿病病 (DKD) 是一种严重的并发症,影响多达50%的糖尿病患者.
- 虽然高血糖是主要的驱动因素,但DKD是一种复杂的,多因素的疾病,具有很长的发展期.
- 正如家庭研究表明的,遗传倾向在DKD风险中起着重要作用.
研究的目的:
- 审查糖尿病病 (DKD) 确定的遗传和表观遗传风险因素.
- 提供对目前对DKD遗传贡献的理解的概述.
- 突出新兴遗传和表观遗传研究在DKD中的作用.
主要方法:
- 对全基因组关联研究 (GWAS) 的审查,以确定常见的遗传风险因素.
- 对罕见遗传风险因素的全外体和全基因组测序研究的分析.
- 包括调查DKD中DNA甲基化的全表观基因组关联研究 (EWAS).
主要成果:
- GWAS已经成功地确定了许多与DKD风险相关的常见遗传变异.
- 新兴的测序研究正在发现导致DKD的罕见遗传变异.
- EWAS正在揭示DNA甲基化模式在DKD病变发生过程中的作用.
结论:
- 遗传和表观遗传因素是糖尿病病风险的关键决定因素.
- 基因组技术的进步正在加强与DKD相关的变异的识别.
- 了解这些遗传因素对于制定针对性预防和治疗DKD的策略至关重要.
相关概念视频
Pathophysiology of Diabetes
1.0K
Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
1.0K
Chronic Kidney Disease I: Introduction
43
Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage kidney disease (ESKD). At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate...
43
Diabetes Mellitus: Type 2 and Gestational
2.6K
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
2.6K
Diabetes Mellitus: Overview and Type I Subtype
2.8K
Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
2.8K
Chronic Kidney Disease II: Clinical Manifestations
42
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
42
Kidney Transplant I: Introduction
29
A kidney transplant is a surgical approach that involves replacing a non-functioning kidney with a healthy one from a donor. This procedure is often a treatment option for end-stage renal disease (ESRD) patients. The method requires careful recipient selection, including evaluating various medical and psychosocial factors. These criteria vary between transplant centers but generally include assessments of the patient's overall health, adherence to medical recommendations, and lifestyle...
29


