SNP Genotyping, Imputation and GWAS Publications

Below are some recent publications from ATGC utilising SNP genotyping, imputation and genome-wide association studies.

 

Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis

Li, Zhixiu, Akar, Servet, Yarkan, Handan, Lee, Candice, Cetin, Pinar, Can, Gerçek, Kenar, Gokce, Capa, Fernur, Pamuk, Omer Nuri, Pehlivan, Yavuz, et al. (2019) Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis. PLoS Genetics, 15 (4), pp.Article number: e1008038 1-18.
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HLA alleles associated with risk of ankylosing spondylitis and rheumatoid arthritis influence the gut microbiome

Asquith, Mark, Sternes, Peter, Costello, Mary-Ellen, Karstens, Lisa, Diamond, Sarah, Martin, Tammy, Li, Zhixiu, Clout, Mhairi, Spector, Timothy, Le Cao, Kim-Anh, et al. (2019) HLA alleles associated with risk of ankylosing spondylitis and rheumatoid arthritis influence the gut microbiome. Arthritis and Rheumatology, 71 (10), pp.1642-1650.
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HLA class I and II alleles in susceptibility to ankylosing spondylitis

Reveille, John, Zhou, Xiaodong, Lee, MinJae, Weisman, Michael, Yi, Lin, Gensler, Lianne, Zou, Hejian, Ward, Michael, Ishimori, Mariko, Learch, Thomas, et al. (2019) HLA class I and II alleles in susceptibility to ankylosing spondylitis. Annals of the Rheumatic Diseases, 78 (1), pp.66-73.
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Genetic Variants in ERAP1 and ERAP2 Associated With Immune-Mediated Diseases Influence Protein Expression and the Isoform Profile

Hanson, Aimee, Cuddihy, Thomas, Haynes, Katelin, Loo, Dorothy, Morton, Craig, Oppermann, Udo, Leo, Paul, Thomas, Gethin, Le Cao, Kim-Anh, Kenna, Tony, et al. (2018) Genetic variants in ERAP1 and ERAP2 associated with immune-mediated diseases influence protein expression and the isoform profile. Arthritis and Rheumatology, 70 (2), pp.255-265.
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Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes

Gregson, Celia, Newell, Felicity, Leo, Paul, Clark, Graeme, Paternoster, Lavinia, Clout, Mhairi, Forgetta, Vincenzo, Morris, John, Ge, Bing, Bao, Xiao, et al. (2018) Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes. Bone, 114, pp.62-71.
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HLA and KIR Associations of Cervical Neoplasia.

Bao, Xiao, Hanson, Aimee, Madeleine, Margaret, Wang, Sophia, Schwartz, Stephen, Newell, Felicity, Pettersson-Kymmer, Ulrika, Hemminki, Kari, Tiews, Sven, Steinberg, Winfried, et al. (2018) HLA and KIR associations of cervical neoplasia. Journal of Infectious Diseases, 218 (12), pp.2003-2015.
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Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis

Cortes, Adrian, Gladman, Dafna, Raychaudhuri, Soumya, Cui, Jing, Wheeler, Lawrie, Brown, Matt (2018) Imputation-based analysis of MICA alleles in the susceptibility to ankylosing spondylitis. Annals of the Rheumatic Diseases, 77 (11), pp.1691-1692.
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Genome-wide association study in Guillain-Barré syndrome

Blum, Stefan, Ji, Ying, Pennisi, David, Li, Zhixiu, Leo, Paul, McCombe, Pamela, Brown, Matt (2018) Genome-wide association study in Guillain-Barré syndrome. Journal of Neuroimmunology, 323, pp.109-114.
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Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1

Cortes, Adrian, Pulit, Sara, Leo, Paul, Pointon, Jennifer, Robinson, Philip, Weisman, Michael, Ward, Michael, Gensler, Lianne, Zhou, Xiaodong, Brown, Matthew, et al. (2015) Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1. Nature Communications, 6, pp.Article number: 7146 1-8.
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Identification of multiple risk variants for ankylosing spondylitis

Cortes, Adrian, Hadler, Johanna, Pointon, Jennifer, Robinson, Philip, Karaderi, Tugce, Leo, Paul, Cremin, Katie, Pryce, Karena, Harris, Jessica, Brown, Matthew, et al. (2013) Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nature Genetics, 45 (7), pp.730-738.
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