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Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Dand N, Mucha S, Tsoi LC, Mahil SK, Stuart PE, Arnold A, Baurecht H, Burden AD, Callis Duffin K, Chandran V, Curtis CJ, Das S, Ellinghaus D, Ellinghaus E, Enerback C, Esko T, Gladman DD, Griffiths CEM, Gudjonsson JE, Hoffman P, Homuth G, Hüffmeier U, Krueger GG, Laudes M, Lee SH, Lieb W, Lim HW, Löhr S, Mrowietz U, Müller-Nurayid M, Nöthen M, Peters A, Rahman P, Reis A, Reynolds NJ, Rodriguez E, Schmidt CO, Spain SL, Strauch K, Tejasvi T, Voorhees JJ, Warren RB, Weichenthal M, Weidinger S, Zawistowski M, Nair RP, Capon F, Smith CH, Trembath RC, Abecasis GR, Elder JT, Franke A, Simpson MA, Barker JN. Dand N, et al. Among authors: spain sl. Hum Mol Genet. 2017 Nov 1;26(21):4301-4313. doi: 10.1093/hmg/ddx328. Hum Mol Genet. 2017. PMID: 28973304 Free PMC article.
An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.
Clop A, Bertoni A, Spain SL, Simpson MA, Pullabhatla V, Tonda R, Hundhausen C, Di Meglio P, De Jong P, Hayday AC, Nestle FO, Barker JN, Bell RJ, Capon F, Trembath RC. Clop A, et al. Among authors: spain sl. PLoS One. 2013 Aug 19;8(8):e71690. doi: 10.1371/journal.pone.0071690. eCollection 2013. PLoS One. 2013. PMID: 23990973 Free PMC article.
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ, Lehne B, Stone K, Lee JC, Taylor K, Knight J, Papouli E, Mirza MM, Simpson MA, Spain SL, Lu G, Fraternali F, Bumpstead SJ, Gray E, Amar A, Bye H, Green P, Chung-Faye G, Hayee B, Pollok R, Satsangi J, Parkes M, Barrett JC, Mansfield JC, Sanderson J, Lewis CM, Weale ME, Schlitt T, Mathew CG; UK IBD Genetics Consortium. Prescott NJ, et al. Among authors: spain sl. PLoS Genet. 2015 Feb 11;11(2):e1004955. doi: 10.1371/journal.pgen.1004955. eCollection 2015 Feb. PLoS Genet. 2015. PMID: 25671699 Free PMC article.
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.
Onoufriadis A, Simpson MA, Pink AE, Di Meglio P, Smith CH, Pullabhatla V, Knight J, Spain SL, Nestle FO, Burden AD, Capon F, Trembath RC, Barker JN. Onoufriadis A, et al. Among authors: spain sl. Am J Hum Genet. 2011 Sep 9;89(3):432-7. doi: 10.1016/j.ajhg.2011.07.022. Epub 2011 Aug 11. Am J Hum Genet. 2011. PMID: 21839423 Free PMC article.
Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan.
Kemp Z, Carvajal-Carmona L, Spain S, Barclay E, Gorman M, Martin L, Jaeger E, Brooks N, Bishop DT, Thomas H, Tomlinson I, Papaemmanuil E, Webb E, Sellick GS, Wood W, Evans G, Lucassen A, Maher ER, Houlston RS; ColoRectal tumour Gene Identification (CoRGI) Study Consortium. Kemp Z, et al. Hum Mol Genet. 2006 Oct 1;15(19):2903-10. doi: 10.1093/hmg/ddl231. Epub 2006 Aug 21. Hum Mol Genet. 2006. PMID: 16923799
Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis.
Knight J, Spain SL, Capon F, Hayday A, Nestle FO, Clop A; Wellcome Trust Case Control Consortium; Genetic Analysis of Psoriasis Consortium; I-chip for Psoriasis Consortium; Barker JN, Weale ME, Trembath RC. Knight J, et al. Among authors: spain sl. Hum Mol Genet. 2012 Dec 1;21(23):5185-92. doi: 10.1093/hmg/dds344. Epub 2012 Aug 21. Hum Mol Genet. 2012. PMID: 22914738 Free PMC article.
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.
Pittman AM, Webb E, Carvajal-Carmona L, Howarth K, Di Bernardo MC, Broderick P, Spain S, Walther A, Price A, Sullivan K, Twiss P, Fielding S, Rowan A, Jaeger E, Vijayakrishnan J, Chandler I, Penegar S, Qureshi M, Lubbe S, Domingo E, Kemp Z, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop T, Gray R, Maher ER, Lucassen A, Kerr D, Evans GR; CORGI Consortium; van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A; EPICOLON Consortium; Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Cazier JB, Tomlinson IP, Houlston RS. Pittman AM, et al. Hum Mol Genet. 2008 Dec 1;17(23):3720-7. doi: 10.1093/hmg/ddn267. Epub 2008 Aug 27. Hum Mol Genet. 2008. PMID: 18753146
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