印度人口中2型糖尿病的全基因组多基因风险评分
Sandhya Kiran Pemmasani1, Shravya Atmakuri2, Anuradha Acharya2
1Mapmygenome India Limited, Hyderabad, India. drsandhyakiran@mapmygenome.in.
Scientific reports
|July 18, 2023
概括
在印度人群中开发多基因风险评分 (PRS) 对2型糖尿病 (T2D) 可以识别高风险个体. 这使得个性化策略能够用于早期预防T2D.
科学领域:
- 遗传学 遗传学 是一个
- 公共卫生 公共卫生
- 个性化医疗是个性化的医疗.
背景情况:
- 全基因组多基因风险评分 (PRS) 对于早期识别2型糖尿病 (T2D) 等生活方式疾病风险的个体是有价值的.
- 开发特定于人口的PRS对于准确的风险预测和有针对性的干预措施至关重要.
研究的目的:
- 专门为印度人口开发和验证2型糖尿病的多基因风险评分 (PRS).
- 评估PRS在识别印度人口群体中面临T2D风险的个人的有效性.
主要方法:
- 利用来自英国生物银行959例T2D病例和2818例印度血统对照的归算基因型数据来开发PRS.
- 使用来自 DIAMANTE 联盟 (南亚数据) 的总结统计数据来权衡遗传变异,并使用 LDpred2 算法来解释链接不平衡.
- 在一个独立的印度数据集 (GenomegaDB) 上验证了开发的PRS,其中包括445个人.
主要成果:
- 在发育队列中,PRS与T2D有显著的关联 (AUC=0.7953,OR=2.9856),最高的PRS四分位数显示风险增加5.79倍.
- 在独立的印度测试数据集中,PRS也显示出显著的关联 (AUC=0.7781,OR=1.6656).
- 较高的PRS四分位数连续与患T2D的几率增加有关.
结论:
- 已经成功建立了一个为T2D衍生印度特有的PRS的框架.
- 开发的PRS显示出作为基于T2D风险的个人分层的预后指标的潜力.
- 这些发现支持使用PRS来推印度人群中2型糖尿病的个性化预防策略.
相关概念视频
Genome-wide Association Studies-GWAS
13.6K
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...
13.6K
Diabetes Mellitus: Type 2 and Gestational
2.5K
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...
2.5K
Polygenic Traits
66.0K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
66.0K
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
Single Nucleotide Polymorphisms-SNPs
15.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.3K
Human Genetics
616
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
616


