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Promise and pitfalls of the Immunochip.
Cortes A, Brown MA. Cortes A, et al. Arthritis Res Ther. 2011 Feb 1;13(1):101. doi: 10.1186/ar3204. Arthritis Res Ther. 2011. PMID: 21345260 Free PMC article. Review.
Genomewide association studies (GWAS) have proven a powerful hypothesis-free method to identify common disease-associated variants. ...This chip provides a powerful tool for immunogenetics gene mapping....
Genomewide association studies (GWAS) have proven a powerful hypothesis-free method to identify common disease-associated variants. . …
Association study of genes related to bone formation and resorption and the extent of radiographic change in ankylosing spondylitis.
Cortes A, Maksymowych WP, Wordsworth BP, Inman RD, Danoy P, Rahman P, Stone MA, Corr M, Gensler LS, Gladman D, Morgan A, Marzo-Ortega H, Ward MM; SPARCC (Spondyloarthritis Research Consortium of Canada); TASC (Australo-Anglo-American Spondyloarthritis Consortium), Learch TJ, Reveille JD, Brown MA, Weisman MH. Cortes A, et al. Ann Rheum Dis. 2015 Jul;74(7):1387-93. doi: 10.1136/annrheumdis-2013-204835. Epub 2014 Mar 20. Ann Rheum Dis. 2015. PMID: 24651623 Free PMC article.
In phase 2, 15 SNPs exhibiting p<0.05 were genotyped in a further cohort of 830 AS cases; results were analysed both separately and in combination with the discovery phase data. ...RESULTS: Experiment-wise association was observed with the SNP rs8092336 (combined OR 0.3 …
In phase 2, 15 SNPs exhibiting p<0.05 were genotyped in a further cohort of 830 AS cases; results were analysed both separately an …
Investigation of a possible extended risk haplotype in the IL23R region associated with ankylosing spondylitis.
Roberts AR, Vecellio M, Cortes A, Knight JC, Cohen CJ, Wordsworth BP. Roberts AR, et al. Among authors: cortes a. Genes Immun. 2017 Mar;18(2):105-108. doi: 10.1038/gene.2017.5. Epub 2017 Apr 6. Genes Immun. 2017. PMID: 28381868 Free PMC article.
We used publicly available epigenomic information and historical genetic association data to identify a putative regulatory element (PRE) in the intergenic region between IL23R and IL12RB2, which includes two single-nucleotide polymorphisms (SNPs) independently associated …
We used publicly available epigenomic information and historical genetic association data to identify a putative regulatory element ( …
Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1.
Cortes A, Pulit SL, Leo PJ, Pointon JJ, Robinson PC, Weisman MH, Ward M, Gensler LS, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Haroon N, Mulero J, Blanco FJ, Gonzalez-Gay MA, Lopez-Larrea C, Bowness P, Gaffney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Crusius JB, van der Horst-Bruinsma IE, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Martin J, Breban M, Wordsworth BP, Reveille JD, Evans DM, de Bakker PI, Brown MA. Cortes A, et al. Nat Commun. 2015 May 21;6:7146. doi: 10.1038/ncomms8146. Nat Commun. 2015. PMID: 25994336 Free PMC article.
Ankylosing spondylitis (AS) is a common, highly heritable, inflammatory arthritis for which HLA-B*27 is the major genetic risk factor, although its role in the aetiology of AS remains elusive. ...After controlling for the associated haplotypes in HLA-B, we observe independ …
Ankylosing spondylitis (AS) is a common, highly heritable, inflammatory arthritis for which HLA-B*27 is the major genetic risk factor …
Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank.
Cortes A, Dendrou CA, Motyer A, Jostins L, Vukcevic D, Dilthey A, Donnelly P, Leslie S, Fugger L, McVean G. Cortes A, et al. Nat Genet. 2017 Sep;49(9):1311-1318. doi: 10.1038/ng.3926. Epub 2017 Jul 31. Nat Genet. 2017. PMID: 28759005 Free PMC article.
However, a critical question when analyzing high-dimensional and heterogeneous data is how best to interrogate increasingly specific subphenotypes while retaining statistical power to detect genetic associations. ...Our method displays a more than 20% increase in po …
However, a critical question when analyzing high-dimensional and heterogeneous data is how best to interrogate increasingly specific …
Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.
Leo PJ, Madeleine MM, Wang S, Schwartz SM, Newell F, Pettersson-Kymmer U, Hemminki K, Hallmans G, Tiews S, Steinberg W, Rader JS, Castro F, Safaeian M, Franco EL, Coutlée F, Ohlsson C, Cortes A, Marshall M, Mukhopadhyay P, Cremin K, Johnson LG, Trimble CL, Garland S, Tabrizi SN, Wentzensen N, Sitas F, Little J, Cruickshank M, Frazer IH, Hildesheim A, Brown MA. Leo PJ, et al. Among authors: cortes a. PLoS Genet. 2017 Aug 14;13(8):e1006866. doi: 10.1371/journal.pgen.1006866. eCollection 2017 Aug. PLoS Genet. 2017. PMID: 28806749 Free PMC article.
A small percentage of women with cervical HPV infection progress to cervical neoplasia, and the risk factors determining progression are incompletely understood. ...
A small percentage of women with cervical HPV infection progress to cervical neoplasia, and the risk factors determining progression …
An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3.
Zochling J, Newell F, Charlesworth JC, Leo P, Stankovich J, Cortes A, Zhou Y, Stevens W, Sahhar J, Roddy J, Nash P, Tymms K, Rischmueller M, Lester S, Proudman S, Brown MA. Zochling J, et al. Among authors: cortes a. Arthritis Res Ther. 2014 Oct 21;16(5):438. doi: 10.1186/s13075-014-0438-8. Arthritis Res Ther. 2014. PMID: 25332064 Free PMC article.
METHODS: We genotyped individuals from a well-characterized cohort of Australian scleroderma patients with the Immunochip, a custom array enriched for single nucleotide polymorphisms (SNPs) at immune loci. ...This study identified a likely functional variant …
METHODS: We genotyped individuals from a well-characterized cohort of Australian scleroderma patients with the Immunochip, a c …
ERAP1 association with ankylosing spondylitis is attributable to common genotypes rather than rare haplotype combinations.
Roberts AR, Appleton LH, Cortes A, Vecellio M, Lau J, Watts L, Brown MA, Wordsworth P. Roberts AR, et al. Among authors: cortes a. Proc Natl Acad Sci U S A. 2017 Jan 17;114(3):558-561. doi: 10.1073/pnas.1618856114. Epub 2017 Jan 3. Proc Natl Acad Sci U S A. 2017. PMID: 28049827 Free PMC article.
Genetic diagnostic profiling in axial spondyloarthritis: a real world study.
Thomas GP, Willner D, Robinson PC, Cortes A, Duan R, Rudwaleit M, Akkoc N, Braun J, Chou CT, Maksymowych WP, Ozgocmen S, Roussou E, Sieper J, Valle-Oñate R, van der Heijde D, Wei J, Leo P, Brown MA; and the International Genetics of Ankylosing Spondylitis Consortium. Thomas GP, et al. Among authors: cortes a. Clin Exp Rheumatol. 2017 Mar-Apr;35(2):229-233. Epub 2016 Oct 7. Clin Exp Rheumatol. 2017. PMID: 27749235
We have tested the ability of genetic profiling to diagnose axial SpA (axSpA) as a whole group, or ankylosing spondylitis (AS) alone, in a cohort of chronic back pain patients. ...CONCLUSIONS: In a clinical setting of referred back pain patients suspected to …
We have tested the ability of genetic profiling to diagnose axial SpA (axSpA) as a whole group, or ankylosing spondylitis (AS) alone, …
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
Ellinghaus D, Jostins L, Spain SL, Cortes A, Bethune J, Han B, Park YR, Raychaudhuri S, Pouget JG, Hübenthal M, Folseraas T, Wang Y, Esko T, Metspalu A, Westra HJ, Franke L, Pers TH, Weersma RK, Collij V, D'Amato M, Halfvarson J, Jensen AB, Lieb W, Degenhardt F, Forstner AJ, Hofmann A; International IBD Genetics Consortium (IIBDGC); International Genetics of Ankylosing Spondylitis Consortium (IGAS); International PSC Study Group (IPSCSG); Genetic Analysis of Psoriasis Consortium (GAPC); Psoriasis Association Genetics Extension (PAGE), Schreiber S, Mrowietz U, Juran BD, Lazaridis KN, Brunak S, Dale AM, Trembath RC, Weidinger S, Weichenthal M, Ellinghaus E, Elder JT, Barker JN, Andreassen OA, McGovern DP, Karlsen TH, Barrett JC, Parkes M, Brown MA, Franke A. Ellinghaus D, et al. Among authors: cortes a. Nat Genet. 2016 May;48(5):510-8. doi: 10.1038/ng.3528. Epub 2016 Mar 14. Nat Genet. 2016. PMID: 26974007 Free PMC article.
The comorbidities among the five immune diseases were best explained by biological pleiotropy rather than heterogeneity (a subgroup of cases genetically identical to those with another disease, possibly owing to diagnostic misclassification, molecular subtypes or excessive …
The comorbidities among the five immune diseases were best explained by biological pleiotropy rather than heterogeneity (a subgroup o …
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