Strategies in analysis of the genetic component of multifactorial diseases; biostatistical aspects

被引:9
作者
Barnetche, T [1 ]
Gourraud, PA [1 ]
Cambon-Thomsen, A [1 ]
机构
[1] Fac Med Toulouse, INSERM, Dept Epidemiol, U558, F-31073 Toulouse, France
关键词
multifactorial diseases; association studies; linkage studies; immunogenetics; statistics methods;
D O I
10.1016/j.trim.2005.03.015
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Complex polygenic and multifactorial diseases remain a challenge for human geneticists. Here we aim to remind basic definitions of multifactorial diseases and the genetic related concepts underlying classical methods. Knowledge on pathophysiological process and the genetic information available conditions the design of study. The choice of methodology, between candidate gene approach and genome scan approach, between linkage and association studies, is the most important step. Both methods, linkage analysis and association studies are usually considered as complementary approaches for a given disease. For this reason, in this article, we present the most important classical methodologies in genetic epidemiology of complex disorders. References and examples are given to illustrate. (C) 2005 Elsevier B.V All rights reserved.
引用
收藏
页码:255 / 266
页数:12
相关论文
共 20 条
[1]   A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data:: Application to HLA in type 1 diabetes [J].
Cordell, HJ ;
Clayton, DG .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (01) :124-141
[2]   THE GENETIC DISSECTION OF MULTIFACTORIAL TRAITS [J].
ELSTON, RC .
CLINICAL AND EXPERIMENTAL ALLERGY, 1995, 25 :103-106
[3]   Genome-wide association studies for common diseases and complex traits [J].
Hirschhorn, JN ;
Daly, MJ .
NATURE REVIEWS GENETICS, 2005, 6 (02) :95-108
[4]  
HYER RN, 1991, AM J HUM GENET, V48, P243
[5]   Screening the rheumatoid arthritis genome for susceptibility genes - A replication study and combined analysis of 512 multicase families [J].
Jawaheer, D ;
Seldin, MF ;
Amos, CI ;
Chen, WV ;
Shigeta, R ;
Etzel, C ;
Damle, A ;
Xiao, XL ;
Chen, D ;
Lum, RF ;
Kern, M ;
Criswell, LA ;
Albani, S ;
Nelson, JL ;
Clegg, DO ;
Pope, R ;
Schroeder, HW ;
Bridges, SL ;
Pisetsky, DS ;
Ward, R ;
Kastner, DL ;
Wilder, RL ;
Pincus, T ;
Callahan, LF ;
Flemming, D ;
Wener, MH ;
Gregersen, PK .
ARTHRITIS AND RHEUMATISM, 2003, 48 (04) :906-916
[6]   Additional genetic susceptibility for rheumatoid arthritis telomeric of the DRB1 locus [J].
Kilding, R ;
Iles, MM ;
Timms, JM ;
Worthington, J ;
Wilson, AG .
ARTHRITIS AND RHEUMATISM, 2004, 50 (03) :763-769
[7]  
Kruglyak L, 1996, AM J HUM GENET, V58, P1347
[8]   GENETIC DISSECTION OF COMPLEX TRAITS [J].
LANDER, ES ;
SCHORK, NJ .
SCIENCE, 1994, 265 (5181) :2037-2048
[9]   The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene [J].
Lie, BA ;
Todd, JA ;
Pociot, F ;
Nerup, J ;
Akselsen, HE ;
Joner, G ;
Dahl-Jorgensen, K ;
Ronningen, KS ;
Thorsby, E ;
Undlien, DE .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (03) :793-800
[10]   SNPing away at complex diseases:: Analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease [J].
Martin, ER ;
Lai, EH ;
Gilbert, JR ;
Rogala, AR ;
Afshari, AJ ;
Riley, L ;
Finch, KL ;
Stevens, F ;
Livak, KJ ;
Slotterbeck, BD ;
Slifer, SH ;
Warren, LL ;
Conneally, PM ;
Schmechel, DE ;
Purvis, I ;
Pericak-Vance, MA ;
Roses, AD ;
Vance, JM .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (02) :383-394