多种祖先的可转移性多基因风险分数的分歧炎
Thomas E Ueland1, Jonathan D Mosley2,3, Christopher Neylan4
1Vanderbilt University School of Medicine, Nashville, Tennessee, USA thomasueland09@gmail.com.
BMJ open gastroenterology
|September 23, 2024
概括
多遗传风险评分 (PRS) 对于分歧性疾病显示一致的关联与严重的表现跨不同的祖先. 虽然PRS改善了风险分层模型,但绝对性能增长很小,这凸显了对遗传倾向的进一步研究的需要.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 胃肠病学 胃肠病学
- 人口健康 人口健康
背景情况:
- 多基因风险评分 (PRS) 需要在不同人群中进行验证,以确保公平的临床应用.
- 脊椎病 (DD) 呈现出由遗传和环境因素影响的复杂病因.
研究的目的:
- 在多样化的"我们所有人"研究计划队列中评估 44 种变异的 PRS 对分歧性疾病.
- 探索与DD遗传易感性的全现象关联.
- 评估PRS在不同祖先群体中对症状性和严重分炎风险进行分层的能力.
主要方法:
- 在全现象关联研究 (PheWAS) 中,对181,719人进行了44种变异的PRS,在风险建模中,对50,037人进行了PRS.
- PheWAS发现了与DD遗传相关的疾病,包括结缔组织疾病和.
- 将PRS纳入的后勤回归模型与使用AUROC和Nagelkerke的R2进行绩效评估的基线模型进行了比较.
主要成果:
- 在欧洲,非洲和混合美国祖先中,PRS显示出一致的关联,增加了欧洲,非洲和混合美国祖先的症状和严重椎炎的几率.
- 整个现象的分析揭示了DD,结缔组织疾病和之间的遗传联系.
- 欧洲祖先模型产生了最高的性能指标 (AUROC:0.78,R2:0.25),PRS贡献了0.034.2的适度R2增加.
结论:
- 转性疾病PRS有效地识别出具有较高严重疾病呈现遗传风险的个体,即使考虑到传统的风险因素.
- 在不同的人群中,PRS在风险分层模型中提供了相对改进.
- 来自PRS的绝对性能提升是温和的,表明未来改进和与其他风险预测器集成的潜力.
更多相关视频
相关概念视频
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
Bulimia Nervosa
55
Bulimia nervosa is a complex and severe eating disorder characterized by a cyclical pattern of binge-and-purge eating pattern. It generally involves an episode of binge eating, followed by compensatory behaviors such as vomiting, excessive exercise, laxative use, or fasting, to prevent weight gain. Despite often maintaining a normal weight, individuals with bulimia are intensely preoccupied with their body image and harbor an overwhelming fear of gaining weight. This can contribute to the...
55
Probability Laws
40.7K
Overview
40.7K
Inflammatory Bowel Disease I: Ulcerative Colitis
151
Introduction
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
151
Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
323
Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
323
Human Genetics
542
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...
542


