Mapping complex disease loci in whole-genome association studies

被引：427

作者：

Carlson, CS

Eberle, MA

Kruglyak, L

Nickerson, DA

机构：

[1] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[2] Fred Hutchinson Canc Res Ctr, Howard Hughes Med Inst, Seattle, WA 98109 USA

[3] Fred Hutchinson Canc Res Ctr, Div Human Biol, Seattle, WA 98109 USA

来源：

NATURE | 2004年 / 429卷 / 6990期

关键词：

D O I：

10.1038/nature02623

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Identification of the genetic polymorphisms that contribute to susceptibility for common diseases such as type 2 diabetes and schizophrenia will aid in the development of diagnostics and therapeutics. Previous studies have focused on the technique of genetic linkage, but new technologies and experimental resources make whole-genome association studies more feasible. Association studies of this type have good prospects for dissecting the genetics of common disease, but they currently face a number of challenges, including problems with multiple testing and study design, definition of intermediate phenotypes and interaction between polymorphisms.

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收藏

页码：446 / 452

页数：7

相关论文

共 68 条

[1]

ADKINS S, 1993, AM J HUM GENET, V52, P598

[2] Association testing by DNA pooling: An effective initial screen [J].

Bansal, A ;

van den Boom, D ;

Kammerer, S ;

Honisch, C ;

Adam, G ;

Cantor, CR ;

Kleyn, P ;

Braun, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (26) :16871-16874

[3] Genetic analysis of multiple sclerosis in Europeans [J].

Barcellos, LF ;

Thomson, G .

JOURNAL OF NEUROIMMUNOLOGY, 2003, 143 (1-2) :1-6

[4]

BEGG CB, 1994, CANCER EPIDEM BIOMAR, V3, P173

[5] Phylogenetic shadowing of primate sequences to find functional regions of the human genome [J].

Boffelli, D ;

McAuliffe, J ;

Ovcharenko, D ;

Lewis, KD ;

Ovcharenko, I ;

Pachter, L ;

Rubin, EM .

SCIENCE, 2003, 299 (5611) :1391-1394

[6] A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus [J].

Bolk, S ;

Pelet, A ;

Hofstra, RMW ;

Angrist, M ;

Salomon, R ;

Croaker, D ;

Buys, CHCM ;

Lyonnet, S ;

Chakravarti, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (01) :268-273

[7] Gene expression signatures identify novel regulatory pathways during murine lung development: implications for lung tumorigenesis [J].

Bonner, AE ;

Lemon, WJ ;

You, M .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (06) :408-417

[8] Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease [J].

Botstein, D ;

Risch, N .

NATURE GENETICS, 2003, 33 (Suppl 3) :228-237

[9] Effects of 5′ regulatory-region polymorphisms on paraoxonase-gene (PON1) expression [J].

Brophy, VH ;

Jampsa, RL ;

Clendenning, JB ;

McKinstry, LA ;

Jarvik, GP ;

Furlong, CE .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1428-1436

[10] Combined carrier status of prothrombin 20210A and factor XIII-A Leu34 alleles as a strong risk factor for myocardial infarction: evidence of a gene-gene interaction [J].

Butt, C ;

Zheng, H ;

Randell, E ;

Robb, D ;

Parfrey, P ;

Xie, YG .

BLOOD, 2003, 101 (08) :3037-3041

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