全基因组洞察力和常见的多基因风险评分:叙述性审查
Mario Mastrangelo1,2, Simona Petrucci3,4, Giuliana Lentini5
1Woman/Child Health and Urological Sciences Department, Sapienza University of Rome, Rome, Italy.
概括
基因组方法正在彻底改变的诊断,全基因组关联研究确定了关键的遗传位置和多基因风险评分,预测了对各种类型和并发症的易感性.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 的研究研究.
背景情况:
- 重症儿科的诊断方法已经转向基因组方法,由对单基因疾病和拷贝数变异的研究驱动.
- 全基因组关联研究 (GWAS) 对于识别常见的遗传敏感位点和理解常见变异在单一性疾病中的作用至关重要.
研究的目的:
- 总结一下在中进行的大规模全基因组关联研究 (GWAS) 的发现.
- 探索多基因风险评分 (PRS) 对预测风险和相关并发症的有用性.
主要方法:
- 对大型全基因组关联研究 (GWAS) 的分析,以确定与相关的显著遗传位置.
- 计算和分析多基因风险评分 (PRS),以评估对易感和并发症的累积遗传影响.
主要成果:
- GWAS确定了八个主要的位置与相关,无论综合征,与特定的位置与遗传通用,青少年肌性,童年缺席和非获得的焦点有关.
- 在遗传通用性 (尤其是家族性,女性和先前有的人) 和并发症 (如抑郁症,精神病和多动症) 中观察到升高的PRS.
结论:
- 包括GWAS和PRS在内的基因组方法正在显著提高我们对遗传学的理解.
- 在风风险预测和理解并发症发展方面,PRS具有临床应用的潜力.
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