基于多基因风险得分的关联分析在两个独立样本中确定了与年龄相关听力困难相关的遗传并发症
Ishan Sunilkumar Bhatt1, Juan Antonio Raygoza Garay2,3, Srividya Grama Bhagavan2
1Department of Communication Sciences & Disorders, University of Iowa, 250 Hawkins Dr, Iowa City, IA, 52242, USA. Ishan-Bhatt@uiowa.edu.
概括
对与年龄相关的听力障碍的遗传倾向与许多健康特征有关. 具有高遗传风险的年轻人表现出早期听力下降的迹象,这表明预防策略至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 听力学 听力学是指听力学.
- 公共卫生 公共卫生
背景情况:
- 与年龄相关的听力损失是一种常见的疾病,与阿尔茨海默病,认知衰退和抑郁症等各种健康问题有关.
- 全基因组关联研究已经确定了许多与常见的成人发病健康状况相关的基因组位置.
- 多基因风险评分 (PRS) 可以量化复杂特征的遗传易感性.
研究的目的:
- 为了确定与年龄相关的听力困难相关的遗传并发症.
- 在一个大规模的英国生物库样本中,对与年龄相关的听力障碍进行基于PRS的关联分析.
- 在年轻成年人中,使用听力值 (HTs) 和扭曲产品耳声排放 (DPOAEs) 来复制研究结果.
主要方法:
- 利用英国生物库数据 (N=425,240) 进行基于PRS的与年龄相关的听力障碍的关联分析.
- 从多基因风险评分目录中提取了2627个PRS预测因子.
- 在242名年轻成年人中测量HT和DPOAE,随后进行全基因组归算和PRS计算.
主要成果:
- 确定了977个与年龄相关的听力困难相关的PRS预测因子,听力困难和助听器使用PRS显示了最强的关联.
- 发现,具有更高遗传倾向的青少年出现听力障碍,在HT的亚临床上升和DPOAEs的下降.
- 复制了50个HT和DPOAEs的PRS预测器,在心理健康,生活方式,代谢和免疫特征上显著丰富.
结论:
- 确定了与年龄相关的听力损失相关的多种遗传并发症.
- 年轻人具有较高的遗传倾向可能会在临床表现前几十年导致亚临床听力下降.
- 对遗传风险的早期沟通,促进健康的生活方式和减少环境风险因素可以帮助预防或延迟与年龄相关的听力困难.
相关概念视频
Genome-wide Association Studies-GWAS
13.3K
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...
13.3K
Gene-Environment Interactions
293
Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
293
Pleiotropy
40.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.4K
Human Genetics
559
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...
559
Heritability
196
Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
196
Genetic Lingo
102.7K
Overview
102.7K


