[阿迪波涅克丁拷贝数变异区域与妊娠糖尿病之间的关联]
1Department of Epidemiology, School of Public Health, Fudan University/Key Laboratory for Health Technology Assessment, National Commission of Health/Key Laboratory of Public Health Safety, Ministry of Education, Shanghai 200032, China.
概括
与阿迪波涅丁相关的特定拷贝数变异区域 (CNVRs) 可能会增加妊娠糖尿病 (GDM) 的风险. 确定CNVR_254和CNVR_691是孕妇GDM发病率的潜在风险因素.
科学领域:
- 遗传学 遗传学 是一个
- 生殖医学 生殖医学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 孕期糖尿病 (GDM) 对母亲和胎儿的健康构成风险.
- 阿迪波内克在新陈代谢调节中起作用.
- 副本数变异 (CNV) 与各种疾病有关,但它们在GDM中的作用尚未完全理解.
研究的目的:
- 调查与脂肪素相关的拷贝数变异区域 (CNVRs) 和妊娠糖尿病 (GDM) 之间的关联.
主要方法:
- 对一组孕妇进行了调查,以获得基线信息,并采集了血液样本.
- 使用乳增强免疫突变测量和ASA-CHIA芯片分别检测了血清皮素水平和CNV.
- 使用PennCNV和R软件处理了CNV数据;使用日志二项式回归分析了与阿迪波涅丁和GDM风险的关联.
主要成果:
- 观察到GDM检测率为9.54%.
- 四个CNVR (CNVR_132,CNVR_254,CNVR_691,CNVR_1101) 与阿迪波内克丁水平相关.
- 在对共变量进行调整后,CNVR_254和CNVR_691与GDM风险增加有关 (分别为aRR=1.83和aRR=1.73).
结论:
- 与皮菌素相关的CNVR_254和CNVR_691可能是GDM发病率的风险因素.
- 这些发现凸显了特定的CNVR在GDM病变发生过程中的潜在作用.
相关概念视频
Comparing Copy Number Variations and SNPs
17.6K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.6K
Diabetes Mellitus: Type 2 and Gestational
2.2K
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...
2.2K
Pathophysiology of Diabetes
894
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,...
894
Genomic Imprinting and Inheritance
34.1K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.1K
Genome-wide Association Studies-GWAS
13.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.2K
Diabetes Mellitus: Overview and Type I Subtype
2.5K
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...
2.5K


