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dc.contributor.authorUeda, Atsuhisa
dc.contributor.authorKirino, Yohei
dc.contributor.authorBertsias, George
dc.contributor.authorIshigatsubo, Yoshiaki
dc.contributor.authorMizuki, Nobuhisa
dc.contributor.authorSeyahi, Emire
dc.contributor.authorSacli, F. Sevgi
dc.contributor.authorErer, Burak
dc.contributor.authorInoko, Hidetoshi
dc.contributor.authorSatorius, Colleen
dc.contributor.authorTakeno, Mitsuhiro
dc.contributor.authorKim, Yoonhee
dc.contributor.authorWood, Geryl M.
dc.contributor.authorOmbrello, Michael J.
dc.contributor.authorMeguro, Akira
dc.contributor.authorRemmers, Elaine F.
dc.contributor.authorKastner, Daniel L.
dc.contributor.authorCakar, Atilla
dc.contributor.authorUstek, Duran
dc.contributor.authorOzyazgan, Yilmaz
dc.contributor.authorTugal-Tutkun, Ilknur
dc.contributor.authorGul, Ahmet
dc.contributor.authorAbaci, Neslihan
dc.contributor.authorEmrence, Zeliha
dc.date.accessioned2021-03-06T11:29:00Z
dc.date.available2021-03-06T11:29:00Z
dc.date.issued2013
dc.identifier.citationKirino Y., Bertsias G., Ishigatsubo Y., Mizuki N., Tugal-Tutkun I., Seyahi E., Ozyazgan Y., Sacli F. S. , Erer B., Inoko H., et al., "Genome-wide association analysis identifies new susceptibility loci for Behcet's disease and epistasis between HLA-B*51 and ERAP1", NATURE GENETICS, cilt.45, ss.202-207, 2013
dc.identifier.issn1061-4036
dc.identifier.otherav_ef45c9cd-eaad-46d3-8579-1e5f549295ea
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/157044
dc.identifier.urihttps://doi.org/10.1038/ng.2520
dc.description.abstractIndividuals with Behcet's disease suffer from episodic inflammation often affecting the orogenital mucosa, skin and eyes. To discover new susceptibility loci for Behcet's disease, we performed a genome-wide association study (GWAS) of 779,465 SNPs with imputed genotypes in 1,209 Turkish individuals with Behcet's disease and 1,278 controls. We identified new associations at CCR1, STAT4 and KLRC4. Additionally, two SNPs in ERAP1, encoding ERAP1 p.Asp575Asn and p.Arg725Gln alterations, recessively conferred disease risk. These findings were replicated in 1,468 independent Turkish and/or 1,352 Japanese samples (combined meta-analysis P < 2 x 10(-9)). We also found evidence for interaction between HLA-B*51 and ERAP1 (P = 9 x 10(-4)). The CCR1 and STAT4 variants were associated with gene expression differences. Three risk loci shared with ankylosing spondylitis and psoriasis (the MHC class I region, ERAP1 and IL23R and the MHC class I-ERAP1 interaction), as well as two loci shared with inflammatory bowel disease (IL23R and IL10) implicate shared pathogenic pathways in the spondyloarthritides and Behcet's disease.
dc.language.isoeng
dc.subjectYaşam Bilimleri
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titleGenome-wide association analysis identifies new susceptibility loci for Behcet's disease and epistasis between HLA-B*51 and ERAP1
dc.typeMakale
dc.relation.journalNATURE GENETICS
dc.contributor.departmentNational Institutes of Health (NIH) - USA , ,
dc.identifier.volume45
dc.identifier.issue2
dc.identifier.startpage202
dc.identifier.endpage207
dc.contributor.firstauthorID6565


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