The complex genetics of multiple sclerosis: pitfalls and prospects

被引：74

作者：

Sawcer, Stephen ^{[1
]}

机构：

[1] Univ Cambridge, Addenbrookes Hosp, Dept Clin Neurosci, Cambridge CB2 2QQ, England

来源：

BRAIN | 2008年 / 131卷

基金：

英国惠康基金;

关键词：

D O I：

10.1093/brain/awn081

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The genetics of complex disease is entering a new and exciting era. The exponentially growing knowledge and technological capabilities emerging from the human genome project have finally reached the point where relevant genes can be readily and affordably identified. As a result, the last 12 months has seen a virtual explosion in new knowledge with reports of unequivocal association to relevant genes appearing almost weekly. The impact of these new discoveries in Neuroscience is incalculable at this stage but potentially revolutionary. In this review, an attempt is made to illuminate some of the mysteries surrounding complex genetics. Although focused almost exclusively on multiple sclerosis all the points made are essentially generic and apply equally well, with relatively minor addendums, to any other complex trait, neurological or otherwise.

引用

页码：3118 / 3131

页数：14

共 141 条

[1] A genome-wide screen for linkage in Nordic sib-pairs with multiple sclerosis [J].

Akesson, E ;

Oturai, A ;

Berg, J ;

Fredrikson, S ;

Andersen, O ;

Harbo, HF ;

Laaksonen, M ;

Myhr, KM ;

Nyland, HI ;

Ryder, LP ;

Sandberg-Wollheim, M ;

Sorensen, PS ;

Spurkland, A ;

Svejgaard, A ;

Holmans, P ;

Compston, A ;

Hillert, J ;

Sawcer, S .

GENES AND IMMUNITY, 2002, 3 (05) :279-285

[2] The MHC haplotype project: A resource for HLA-linked association studies [J].

Allcock, RJN ;

Atrazhev, AM ;

Beck, S ;

de Jong, PJ ;

Elliott, JF ;

Forbes, S ;

Halls, K ;

Horton, R ;

Osoegawa, K ;

Rogers, J ;

Sawcer, S ;

Todd, JA ;

Trowsdale, J ;

Wang, Y ;

Williams, S .

TISSUE ANTIGENS, 2002, 59 (06) :520-521

[3]

ALPEROVITCH A, 1992, ANN NEUROL, V32, P724

[4] The power of genomic control [J].

Bacanu, SA ;

Devlin, B ;

Roeder, K .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) :1933-1944

[5] A genome screen for linkage in Australian sibling-pairs with multiple sclerosis [J].

Ban, M ;

Stewart, GJ ;

Bennetts, BH ;

Heard, R ;

Simmons, R ;

Maranian, M ;

Compston, A ;

Sawcer, SJ .

GENES AND IMMUNITY, 2002, 3 (08) :464-469

[6] Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis [J].

Barcellos, Lisa F. ;

Sawcer, Stephen ;

Ramsay, Patricia P. ;

Baranzini, Sergio E. ;

Thomson, Glenys ;

Briggs, Farren ;

Cree, Bruce C. A. ;

Begovich, Ann B. ;

Villoslada, Pablo ;

Montalban, Xavier ;

Uccelli, Antonio ;

Savettieri, Giovanni ;

Lincoln, Robin R. ;

DeLoa, Carolyn ;

Haines, Jonathan L. ;

Pericak-Vance, Margaret A. ;

Compston, Alastair ;

Hauser, Stephen L. ;

Oksenberg, Jorge R. .

HUMAN MOLECULAR GENETICS, 2006, 15 (18) :2813-2824

[7] A genome screen for multiple sclerosis in Italian families [J].

Broadley, S ;

Sawcer, S ;

D'Alfonso, S ;

Hensiek, A ;

Coraddu, F ;

Gray, J ;

Roxburgh, R ;

Clayton, D ;

Buttinelli, C ;

Quattrone, A ;

Trojano, M ;

Massacesi, L ;

Compston, A .

GENES AND IMMUNITY, 2001, 2 (04) :205-210

[8] Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].

Burton, Paul R. ;

Clayton, David G. ;

Cardon, Lon R. ;

Craddock, Nick ;

Deloukas, Panos ;

Duncanson, Audrey ;

Kwiatkowski, Dominic P. ;

McCarthy, Mark I. ;

Ouwehand, Willem H. ;

Samani, Nilesh J. ;

Todd, John A. ;

Donnelly, Peter ;

Barrett, Jeffrey C. ;

Davison, Dan ;

Easton, Doug ;

Evans, David ;

Leung, Hin-Tak ;

Marchini, Jonathan L. ;

Morris, Andrew P. ;

Spencer, Chris C. A. ;

Tobin, Martin D. ;

Attwood, Antony P. ;

Boorman, James P. ;

Cant, Barbara ;

Everson, Ursula ;

Hussey, Judith M. ;

Jolley, Jennifer D. ;

Knight, Alexandra S. ;

Koch, Kerstin ;

Meech, Elizabeth ;

Nutland, Sarah ;

Prowse, Christopher V. ;

Stevens, Helen E. ;

Taylor, Niall C. ;

Walters, Graham R. ;

Walker, Neil M. ;

Watkins, Nicholas A. ;

Winzer, Thilo ;

Jones, Richard W. ;

McArdle, Wendy L. ;

Ring, Susan M. ;

Strachan, David P. ;

Pembrey, Marcus ;

Breen, Gerome ;

St Clair, David ;

Caesar, Sian ;

Gordon-Smith, Katherine ;

Jones, Lisa ;

Fraser, Christine ;

Green, Elain K. .

NATURE, 2007, 447 (7145) :661-678

[9] APOE epsilon variation in multiple sclerosis susceptibility and disease severity - Some answers [J].

Burwick, RM ;

Ramsay, PP ;

Haines, JL ;

Hauser, SL ;

Oksenberg, JR ;

Pericak-Vance, MA ;

Schmidt, S ;

Compston, A ;

Sawcer, S ;

Cittadella, R ;

Savettieri, G ;

Quattrone, A ;

Polman, CH ;

Uitdehaag, BMJ ;

Zwemmer, JNP ;

Hawkins, P ;

Ollier, WER ;

Weatherby, S ;

Enzinger, C ;

Fazekas, F ;

Schmidt, H ;

Schmidt, R ;

Hillert, J ;

Masterman, T ;

Hogh, P ;

Niino, M ;

Kikuchi, S ;

Maciel, P ;

Santos, M ;

Rio, ME ;

Kwiecinski, H ;

Zakrzewska-Pniewska, B ;

Evangelou, N ;

Palace, J ;

Barcellos, LF .

NEUROLOGY, 2006, 66 (09) :1373-1383

[10] Association study designs for complex diseases [J].

Cardon, LR ;

Bell, JI .

NATURE REVIEWS GENETICS, 2001, 2 (02) :91-99

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