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Page 1
Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis.
Li Z, Wu X, Leo PJ, De Guzman E, Akkoc N, Breban M, Macfarlane GJ, Mahmoudi M, Marzo-Ortega H, Anderson LK, Wheeler L, Chou CT, Harrison AA, Stebbings S, Jones GT, Bang SY, Wang G, Jamshidi A, Farhadi E, Song J, Lin L, Li M, Wei JC, Martin NG, Wright MJ, Lee M, Wang Y, Zhan J, Zhang JS, Wang X, Jin ZB, Weisman MH, Gensler LS, Ward MM, Rahbar MH, Diekman L, Kim TH, Reveille JD, Wordsworth BP, Xu H, Brown MA; TCRI AS Group. Li Z, et al. Among authors: leo pj. Ann Rheum Dis. 2021 Sep;80(9):1168-1174. doi: 10.1136/annrheumdis-2020-219446. Epub 2021 Apr 20. Ann Rheum Dis. 2021. PMID: 34161253 Free PMC article.
The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis.
Robinson PC, Leo PJ, Pointon JJ, Harris J, Cremin K, Bradbury LA; Wellcome Trust Case Control Consortium; Australasian Osteoporosis Genetics Consortium (AOGC); Stebbings S, Harrison AA, Evans DM, Duncan EL, Wordsworth BP, Brown MA; Australasian Osteoporosis Genetics Consortium AOGC. Robinson PC, et al. Among authors: leo pj. Genes Immun. 2016 Jan-Feb;17(1):46-51. doi: 10.1038/gene.2015.49. Epub 2015 Nov 26. Genes Immun. 2016. PMID: 26610302
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
International Genetics of Ankylosing Spondylitis Consortium (IGAS); Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Kenna TJ, Haroon N, Ferreira MA, Yang J, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Deloukas P, Donnelly P; Australo-Anglo-American Spondyloarthritis Consortium (TASC); Groupe Française d'Etude Génétique des Spondylarthrites (GFEGS); Nord-Trøndelag Health Study (HUNT); Spondyloarthritis Research Consortium of Canada (SPARCC); Wellcome Trust Case Control Consortium 2 (WTCCC2); Bowness P, Gafney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Xu H, Crusius JB, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Videm V, Martin J, Breban M, Reveille JD, Evans DM, Kim TH, Wordsworth BP, Brown MA. International Genetics of Ankylosing Spondylitis Consortium (IGAS), et al. Nat Genet. 2013 Jul;45(7):730-8. doi: 10.1038/ng.2667. Epub 2013 Jun 9. Nat Genet. 2013. PMID: 23749187 Free PMC article.
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. Among authors: leo pj. Nat Commun. 2015 May 21;6:7146. doi: 10.1038/ncomms8146. Nat Commun. 2015. PMID: 25994336 Free PMC article.
Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.
Li Z, Akar S, Yarkan H, Lee SK, Çetin P, Can G, Kenar G, Çapa F, Pamuk ON, Pehlivan Y, Cremin K, De Guzman E, Harris J, Wheeler L, Jamshidi A, Vojdanian M, Farhadi E, Ahmadzadeh N, Yüce Z, Dalkılıç E, Solmaz D, Akın B, Dönmez S, Sarı İ, Leo PJ, Kenna TJ, Önen F, Mahmoudi M, Brown MA, Akkoc N. Li Z, et al. Among authors: leo pj. PLoS Genet. 2019 Apr 4;15(4):e1008038. doi: 10.1371/journal.pgen.1008038. eCollection 2019 Apr. PLoS Genet. 2019. PMID: 30946743 Free PMC article.
Genetic susceptibility to cervical neoplasia.
Brown MA, Leo PJ. Brown MA, et al. Among authors: leo pj. Papillomavirus Res. 2019 Jun;7:132-134. doi: 10.1016/j.pvr.2019.04.002. Epub 2019 Apr 5. Papillomavirus Res. 2019. PMID: 30954690 Free PMC article. Review.
Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease.
Robinson PC, Leo PJ, Pointon JJ, Harris J, Cremin K, Bradbury LA, Stebbings S, Harrison AA; Australian Osteoporosis Genetics Consortium; Wellcome Trust Case Control Consortium; Management Committee; Data and Analysis Group; DNA, Genotyping, Data QC and Informatics Group; Publications Committee; Duncan EL, Evans DM, Wordsworth PB, Brown MA. Robinson PC, et al. Among authors: leo pj. NPJ Genom Med. 2016 May 4;1:16008. doi: 10.1038/npjgenmed.2016.8. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263810 Free PMC article.
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.
Gratten J, Zhao Q, Benyamin B, Garton F, He J, Leo PJ, Mangelsdorf M, Anderson L, Zhang ZH, Chen L, Chen XD, Cremin K, Deng HW, Edson J, Han YY, Harris J, Henders AK, Jin ZB, Li Z, Lin Y, Liu X, Marshall M, Mowry BJ, Ran S, Reutens DC, Song S, Tan LJ, Tang L, Wallace RH, Wheeler L, Wu J, Yang J, Xu H, Visscher PM, Bartlett PF, Brown MA, Wray NR, Fan D. Gratten J, et al. Among authors: leo pj. Genome Med. 2017 Nov 17;9(1):97. doi: 10.1186/s13073-017-0487-0. Genome Med. 2017. PMID: 29149916 Free PMC article.
Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.
McInerney-Leo AM, West J, Wheeler L, Leo PJ, Summers KM, Anderson L, Brown MA, West M, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Mol Genet Genomic Med. 2020 Mar;8(3):e1116. doi: 10.1002/mgg3.1116. Epub 2020 Jan 16. Mol Genet Genomic Med. 2020. PMID: 31950671 Free PMC article.
88 results