Journal ArticleDOI
Association study designs for complex diseases
Lon R. Cardon,John I. Bell +1 more
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TLDR
With the discovery of massive numbers of genetic markers and the development of better tools for genotyping, association studies will inevitably proliferate and now is the time to consider critically the design of such studies to avoid the mistakes of the past and to maximize their potential to identify new components of disease.Abstract:
Assessing the association between DNA variants and disease has been used widely to identify regions of the genome and candidate genes that contribute to disease. However, there are numerous examples of associations that cannot be replicated, which has led to skepticism about the utility of the approach for common conditions. With the discovery of massive numbers of genetic markers and the development of better tools for genotyping, association studies will inevitably proliferate. Now is the time to consider critically the design of such studies, to avoid the mistakes of the past and to maximize their potential to identify new components of disease.read more
Citations
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Gene Polymorphism of Platelet Glycoprotein I bα in Chinese Patients with Large- and Small-Artery Subtypes of Ischemic Stroke
TL;DR: Results suggest that the polymorphism of the GP I bα HPA2 genotype might not be a genetic risk factor of ischemic stroke.
Journal ArticleDOI
Genetic association of FKBP5 with PTSD in US service members deployed to Iraq and Afghanistan.
Lei Zhang,Xian-Zhang Hu,Tianzheng Yu,Ze Chen,Jacob Dohl,Xiaoxia Li,David M. Benedek,Carol S. Fullerton,Gary H. Wynn,James E. Barrett,Mian Li,Dale W. Russell,Biomarker team,Robert J. Ursano +13 more
TL;DR: The association between FK BP5 and probable PTSD in US service members deployed to Iraq and Afghanistan is demonstrated, indicating that FKBP5 might be a risk factor for PTSD.
Journal ArticleDOI
Marker-trait associations for survival, growth, and flowering components in Eucalyptus cladocalyx under arid conditions
Paulina Ballesta,Freddy Mora,Eduardo Ruiz,Rodrigo Iván Contreras-Soto,Rodrigo Iván Contreras-Soto +4 more
TL;DR: Thirty-five half-sib families from Australia were used to identify inter-simple sequence repeat (ISSR) markers that are associated with growth, flowering traits, and tree survival under arid conditions in southern Atacama Desert, Chile.
Journal ArticleDOI
Congenic strains provide evidence that a mapped locus on chromosome 15 influences excitotoxic cell death
TL;DR: Findings confirm the existence of polymorphic loci within the reduced critical region of Sicd2 that regulate the severity of seizure‐induced cell death and confer strong protection against seizure‐ induced excitotoxic cell death.
Journal ArticleDOI
A genome-wide association and prediction study in grapevine deciphers the genetic architecture of multiple traits and identifies genes under many new QTLs
Timothée Flutre,Loïc Le Cunff,Agota Fodor,Amandine Launay,Charles Romieu,Gilles Berger,Yves Bertrand,Nancy Terrier,I. Beccavin,Virginie Bouckenooghe,Maryline Roques,Lucie Pinasseau,Arnaud Verbaere,Nicolas Sommerer,Véronique Cheynier,Roberto Bacilieri,Jean-Michel Boursiquot,Thierry Lacombe,Valérie Laucou,Patrice This,Jean-Pierre Péros,Agnès Doligez +21 more
TL;DR: In this article , a diverse panel of 279 Vitis vinifera L. cultivars was genotyped for 63k single nucleotide polymorphisms (SNPs) by combining an 18k microarray and genotyping-by-sequencing (GBS).
References
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Journal Article
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.
Manish A. Shah,Nicole A. Datson,Lakshmi Srinidhi,Vincent P. Stanton,Marcy E. MacDonald,Marc W. Allard,S. Youngman,Anna-Maria Frischauf,Richard Mott,KM Draths,Günther Zehetner,C. O’Donovan,Thomas J. Fielder,Bruce G. Jenkins,Manju Swaroop,Sherryl A.M. Taylor,Lynn Doucette-Stamm,Heather MacFarlane,Scott A. Strobel,H. E. McFarlane,Alan Buckler,Nicolet Groot,Holger Hummerich,Deanna M. Church,M. A. Anderson,Marianne James,Glenn Barnes,M. Christine,Francis S. Collins,Mabel P. Duyao,Peter B. Dervan,Gillian P. Bates,T Holloway,Peter S. Harper,TW Mcdonald,M North,K Blanchard,John J. Wasmuth,D. Shaw,Hans Lehrach,Danilo A. Tagle,Annemarie Poustka,David E. Housman,T. Huntington,Zdenek Sedlacek,Laura Riba,Susan F. Kirby,Carol Lin,Richard H. Myers,Leslie M. Thompson,Russell G. Snell,Michael Conlon O'Donovan,K Gillespie,Rita Shiang,Nancy S. Wexler,Christine Ambrose,J. F. Gusella,Sarah Baxendale,N. Groat,John Valdes +59 more
TL;DR: The Huntington's disease mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.
Journal ArticleDOI
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
John R. Riordan,Johanna M. Rommens,Batsheva Kerem,Noa Alon,Richard Rozmahel,Zbyszko Grzelczak,Julian Zielenski,Si Lok,Natasa Plavsic,Jia Ling Chou,Mitchell L. Drumm,Michael C. Iannuzzi,Francis S. Collins,Lap-Chee Tsui +13 more
TL;DR: A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.
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