| 陈曦,王斯悦,薛恩慈,王雪珩,彭和香,范梦,王梦莹,武轶群,秦雪英,李劲,吴涛,朱洪平,李静,周治波,陈大方,胡永华.基于家系数据的罕见变异关联分析方法研究进展[J].Chinese journal of Epidemiology,2022,43(9):1497-1502 |
| 基于家系数据的罕见变异关联分析方法研究进展 |
| Family-based association tests for rare variants |
| Received:December 24, 2021 |
| DOI：10.3760/cma.j.cn112338-20211224-01013 |
| KeyWord: 罕见变异 家系数据 多位点关联分析 |
| English Key Word: Rare variant Family data Multi-locus association study |
| FundProject:国家自然科学基金(81230066,81872695,81573225) |
| Author Name | Affiliation | E-mail | | Chen Xi | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Wang Siyue | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Xue Enci | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Wang Xueheng | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Peng Hexiang | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Fan Meng | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Wang Mengying | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Wu Yiqun | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Qin Xueying | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Li Jing | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Wu Tao | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | twu@bjmu.edu.cn | | Zhu Hongping | Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing 100081, China | | | Li Jing | Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology, Beijing 100081, China | | | Zhou Zhibo | Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing 100081, China | | | Chen Dafang | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | | | Hu Yonghua | Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China | |
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| Abstract: |
| 二代测序技术的发展促进了复杂疾病致病性罕见遗传变异的研究。罕见变异的低频性使得单位点关联分析功效不足，因此负荷检验、方差成分检验等整合多个位点信息的关联分析方法得到了广泛应用。但这些方法大多基于人群研究设计，针对家系数据的分析方法较为少见。本文综述了基于家系数据的常用罕见变异关联分析方法，介绍基本原理和特点、适用条件等，并讨论了当前分析方法存在的不足和未来发展的方向。 |
| English Abstract: |
| Next-generation sequencing has revolutionized family-based association tests for rare variants.As the lower power of genome wide association study for detecting casual rare variants,methods aggregating effects of multiple variants have been proposed,such as burden tests and variance component tests.This paper summarizes the methods of rare variants association test that can be applied for family data,introduces their principles,characteristics and applicable conditions and discusses the shortcomings and the improvement of the present methods. |
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