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

作　　者：陈曦 王斯悦 薛恩慈 王雪珩 彭和香 范梦 王梦莹[1] 武轶群[1] 秦雪英[1] 李劲[1] 吴涛[1] 朱洪平[2] 李静[3] 周治波[2] 陈大方[1] 胡永华[1] Chen Xi;Wang Siyue;Xue Enci;Wang Xueheng;Peng Hexiang;Fan Meng;Wang Mengying;Wu Yiqun;Qin Xueying;Li Jing;Wu Tao;Zhu Hongping;Li Jing;Zhou Zhibo;Chen Dafang;Hu Yonghua(Department of Epidemiology and Biostatistics,School of Public Health,Peking University,Beijing 100191,China;Department of Oral and Maxillofacial Surgery,Peking University School and Hospital of Stomatology,Beijing 100081,China;Department of Pediatric Dentistry,Peking University School and Hospital of Stomatology,Beijing 100081,China)

机构地区：[1]北京大学公共卫生学院流行病与卫生统计学系,北京100191 [2]北京大学口腔医学院口腔颌面外科,北京100081 [3]北京大学口腔医学院儿童口腔科,北京100081

出　　处：《中华流行病学杂志》2022年第9期1497-1502,共6页Chinese Journal of Epidemiology

基　　金：国家自然科学基金(81230066,81872695,81573225)。

摘　　要：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。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.

关 键 词：罕见变异 家系数据 多位点关联分析 

分 类 号：R394[医药卫生—医学遗传学]