A tutorial on statistical methods for population association studies

被引:883
作者
Balding, David J. [1 ]
机构
[1] Univ London Imperial Coll Sci Technol & Med, Dept Epidemiol & Publ Hlth, London WC 1PG, England
基金
英国医学研究理事会;
关键词
D O I
10.1038/nrg1916
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Although genetic association studies have been with us for many years, even for the simplest analyses there is little consensus on the most appropriate statistical procedures. Here I give an overview of statistical approaches to population association studies, including preliminary analyses (Hardy-Weinberg equilibrium testing, inference of phase and missing data, and SNP tagging), and single-SNP and multipoint tests for association. My goal is to outline the key methods with a brief discussion of problems ( population structure and multiple testing), avenues for solutions and some ongoing developments.
引用
收藏
页码:781 / 791
页数:11
相关论文
共 108 条
[1]   A general test of association for quantitative traits in nuclear families [J].
Abecasis, GR ;
Cardon, LR ;
Cookson, WOC .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (01) :279-292
[2]   GOLD - Graphical Overview of Linkage Disequilibrium [J].
Abecasis, GR ;
Cookson, WOC .
BIOINFORMATICS, 2000, 16 (02) :182-183
[3]   A haplotype map of the human genome [J].
Altshuler, D ;
Brooks, LD ;
Chakravarti, A ;
Collins, FS ;
Daly, MJ ;
Donnelly, P ;
Gibbs, RA ;
Belmont, JW ;
Boudreau, A ;
Leal, SM ;
Hardenbol, P ;
Pasternak, S ;
Wheeler, DA ;
Willis, TD ;
Yu, FL ;
Yang, HM ;
Zeng, CQ ;
Gao, Y ;
Hu, HR ;
Hu, WT ;
Li, CH ;
Lin, W ;
Liu, SQ ;
Pan, H ;
Tang, XL ;
Wang, J ;
Wang, W ;
Yu, J ;
Zhang, B ;
Zhang, QR ;
Zhao, HB ;
Zhao, H ;
Zhou, J ;
Gabriel, SB ;
Barry, R ;
Blumenstiel, B ;
Camargo, A ;
Defelice, M ;
Faggart, M ;
Goyette, M ;
Gupta, S ;
Moore, J ;
Nguyen, H ;
Onofrio, RC ;
Parkin, M ;
Roy, J ;
Stahl, E ;
Winchester, E ;
Ziaugra, L ;
Shen, Y .
NATURE, 2005, 437 (7063) :1299-1320
[4]  
[Anonymous], 2011, Categorical data analysis
[5]   Patterns of linkage disequilibrium in the human genome [J].
Ardlie, KG ;
Kruglyak, L ;
Seielstad, M .
NATURE REVIEWS GENETICS, 2002, 3 (04) :299-309
[6]   TESTS FOR LINEAR TRENDS IN PROPORTIONS AND FREQUENCIES [J].
ARMITAGE, P .
BIOMETRICS, 1955, 11 (03) :375-386
[7]   Primate segmental duplications: crucibles of evolution, diversity and disease [J].
Bailey, Jeffrey A. ;
Eichler, Evan E. .
NATURE REVIEWS GENETICS, 2006, 7 (07) :552-564
[8]   Haploview: analysis and visualization of LD and haplotype maps [J].
Barrett, JC ;
Fry, B ;
Maller, J ;
Daly, MJ .
BIOINFORMATICS, 2005, 21 (02) :263-265
[9]   Haplotype sharing analysis using mantel statistics [J].
Beckmann, L ;
Thomas, DC ;
Fischer, C ;
Chang-Claude, J .
HUMAN HEREDITY, 2005, 59 (02) :67-78
[10]   Hidden population substructures in an apparently homogeneous population bias association studies [J].
Berger, M ;
Stassen, HH ;
Köhler, K ;
Krane, V ;
Mönks, D ;
Wanner, C ;
Hoffmann, K ;
Hoffmann, MM ;
Zimmer, M ;
Bickeböller, H ;
Lindner, TH .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (02) :236-244