Open Access
A genome-wide asociation study identifies new psoriasis susceptibility loci and an interaction betwEn HLA-C and ERAP1
A. Strange,Francesca Capon,C. C. A. Spencer,Joanne Knight,Michael E. Weale,Michael H. Allen,Anne Barton,Céline Bellenguez,Judith G.M. Bergboer,J. M. BlackweL,Elvira Bramon,Suzannah Bumpstead,Juan P. Casas,Michael J. Cork,Aiden Corvin,Panagiotis Deloukas,Alexander T. Dilthey,Audrey Duncanson,Sarah Edkins,X. EstiviL,Oliver FitzGerald,C. FrEman,Emiliano Giardina,Emma Gray,Angelika Hofer,Ulrike Hüffmeier,Sarah E. Hunt,Alan D. Irvine,Janusz Jankowski,Brian Kirby,Cordelia Langford,Jesús Lascorz,Joyce Leman,Stephen Leslie,L. MaLbris,Hugh S. Markus,Christopher G. Mathew,Whi McLean,Ross McManus,R. MöSner,Loukas Moutsianas,Åsa Torinsson Naluai,Frank O. Nestle,G. NoveLi,Alexandros Onoufriadis,Colin N. A. Palmer,Carlo Perricone,Matti Pirinen,Robert Plomin,S. C. PoTer,Ramon M. Pujol,Anna Rautanen,Eva Riveira-Muñoz,Anthony W. Ryan,Wolfgang Salmhofer,L. SamuelSon,Stephen Sawcer,Joost Schalkwijk,Catherine H. Smith,Mona Ståhle,Zhan Su,Rachid Tazi-Ahnini,Heiko Traupe,Ananth C. Viswanathan,Richard B. Warren,Wolfgang Weger,Katarina Wolk,N. Wod,Jane Worthington,Helen S. Young,Patrick L.J.M. Zeeuwen,Adrian Hayday,A D Burden,Christopher E.M. Griffiths,Juha Kere,André Reis,Gil McVean,David M. Evans,Matthew A. Brown,J. Barker,Leena Peltonen,P. Donely,Richard C. Trembath +82 more
- 17 Oct 2010
773
TL;DR: In this article, a genome-wide asociation study of 594,224 SNPs in 2,622 individuals with psoriasis and 5,667 controls was conducted.
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Abstract: To identify new susceptibility loci for psoriasis, we undertOk a genome-wide asociation study of 594,224 SNPs in 2,622 individuals with psoriasis and 5,667 controls. We identified asociations at eight previously unreported genomic loci. Seven loci harbored genes with recognized iMune functions (IL28RA, REL, IFIH1, ERAP1, TRAF3IP2, NFKBIA and TYK2). These asociations were replicated in 9,079 European samples (six loci with a combined P < 5-10 -8 and two loci with a combined P < 5-10-7). We also report compeLing evidence for an interaction betwEn the HLA-C and ERAP1 loci (combined P = 6.95-10-6). ERAP1 plays an important role in MHC claS I peptide proceSing. ERAP1 variants only influenced psoriasis susceptibility in individuals carrying the HLA-C risk aLele. Our findings implicate pathways that integrate epidermal barrier dysfunction with iNate and adaptive iMune dysregulation in psoriasis pathogenesis.
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Genome-Wide Association Studies of malaria susceptibility and resistance: progress, pitfalls and prospects
TL;DR: An overview of the current progress in post-GWAS approaches is provided and how these approaches can potentially be implemented in malaria susceptibility GWASs to extract further functional information is discussed.
Genetic contribution of endoplasmic reticulum aminopeptidase 1 polymorphisms to liver fibrosis progression in patients with HCV infection.
Jose Ramón Vidal-Castiñeira,Antonio López-Vázquez,Antonio López-Vázquez,Paula Diaz-Bulnes,Susana Díaz-Coto,Leonardo Márquez-Kisinousky,Jesús Martínez-Borra,Jesús Martínez-Borra,Carmen A Navascues,Paloma Sanz-Cameno,Juan de la Vega,Aurora Astudillo,Manuel Rodríguez,Carlos López-Larrea,Carlos López-Larrea +14 more
TL;DR: ERAP1 variants may influence the clinical course of fibrogenesis in HCV-infected patients and highlight the possibility of using modulators of ERAP1 to generate a protective immune response against chronic HCV infection.
2
Patient empowerment increases capacity and widens access to phototherapy.
TL;DR: This study links the major psoriasis susceptibility genetic polymorphism HLA-Cw6 to the clinical response with the interleukin (IL)-23/IL-12 blocking agent ustekinumab and provides proof-of-principle evidence that genetic polymorphisms could, in future, be used to predict response to biologic therapy in patients with Psoriasis.
2
Psoriasis vulgaris and familial cancer risk- a population-based study
Romuald Maleszka,Katarzyna Paszkowska-Szczur,Ewa Soczawa,Magdalena Boer,Monika Różewicka-Czabańska,Joanna Wiśniewska,A. Mirecka,Lidia Krysztoforska,Zygmunt Adamski,Jan Lubinski,Tadeusz Dębniak +10 more
TL;DR: An increased risk of Hodgkin’s lymphoma is suggested for male members of psoriasis families and the application of cancer surveillance protocols for Hodgkin's lymphoma, leukaemia and laryngeal cancer are justified in these families.
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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
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TL;DR: This study has demonstrated that careful use of a shared control group represents a safe and effective approach to GWA analyses of multiple disease phenotypes; generated a genome-wide genotype database for future studies of common diseases in the British population; and shown that, provided individuals with non-European ancestry are excluded, the extent of population stratification in theBritish population is generally modest.
A new statistical method for haplotype reconstruction from population data.
TL;DR: A new statistical method is presented, applicable to genotype data at linked loci from a population sample, that improves substantially on current algorithms and performs well in absolute terms, suggesting that reconstructing haplotypes experimentally or by genotyping additional family members may be an inefficient use of resources.
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Shared principles in NF-kappaB signaling
Matthew S. Hayden,Sankar Ghosh +1 more
TL;DR: The authors synthesize some of the basic principles that have emerged from studies of NF-kappaB, and aim to generate a more unified view of the regulation of the transcription factor.
4.5K
A flexible and accurate genotype imputation method for the next generation of genome-wide association studies.
TL;DR: It is found that imputation accuracy can be greatly enhanced by expanding the reference panel to contain thousands of chromosomes and that IMPUTE v2 outperforms other methods in this setting at both rare and common SNPs, with overall error rates that are 15%–20% lower than those of the closest competing method.
Genomic control for association studies.
Bernie Devlin,Kathryn Roeder +1 more
TL;DR: The performance of the genomic control method is quite good for plausible effects of liability genes, which bodes well for future genetic analyses of complex disorders.
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