Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study

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dc.contributor.authorOrtiz-Fernández L.
dc.contributor.authorSaruhan-Direskeneli G.
dc.contributor.authorAlibaz-Oner F.
dc.contributor.authorKaymaz-Tahra S.
dc.contributor.authorCoit P.
dc.contributor.authorKong X.
dc.contributor.authorKiprianos A.P.
dc.contributor.authorMaughan R.T.
dc.contributor.authorAydin S.Z.
dc.contributor.authorAksu K.
dc.contributor.authorKeser G.
dc.contributor.authorKamali S.
dc.contributor.authorInanc M.
dc.contributor.authorSpringer J.
dc.contributor.authorAkar S.
dc.contributor.authorOnen F.
dc.contributor.authorAkkoc N.
dc.contributor.authorKhalidi N.A.
dc.contributor.authorKoening C.
dc.contributor.authorKaradag O.
dc.contributor.authorKiraz S.
dc.contributor.authorForbess L.
dc.contributor.authorLangford C.A.
dc.contributor.authorMcAlear C.A.
dc.contributor.authorOzbalkan Z.
dc.contributor.authorYavuz S.
dc.contributor.authorÇetin G.Y.
dc.contributor.authorAlpay-Kanitez N.
dc.contributor.authorChung S.
dc.contributor.authorAtes A.
dc.contributor.authorKaraaslan Y.
dc.contributor.authorMcKinnon-Maksimowicz K.
dc.contributor.authorMonach P.A.
dc.contributor.authorOzer H.T.E.
dc.contributor.authorSeyahi E.
dc.contributor.authorFresko I.
dc.contributor.authorCefle A.
dc.contributor.authorSeo P.
dc.contributor.authorWarrington K.J.
dc.contributor.authorOzturk M.A.
dc.contributor.authorYtterberg S.R.
dc.contributor.authorCobankara V.
dc.contributor.authorOnat A.M.
dc.contributor.authorDuzgun N.
dc.contributor.authorBıcakcıgil M.
dc.contributor.authorYentür S.P.
dc.contributor.authorLally L.
dc.contributor.authorManfredi A.A.
dc.contributor.authorBaldissera E.
dc.contributor.authorErken E.
dc.contributor.authorYazici A.
dc.contributor.authorKısacık B.
dc.contributor.authorKaşifoğlu T.
dc.contributor.authorDalkilic E.
dc.contributor.authorCuthbertson D.
dc.contributor.authorPagnoux C.
dc.contributor.authorSreih A.
dc.contributor.authorReales G.
dc.contributor.authorWallace C.
dc.contributor.authorWren J.D.
dc.contributor.authorCunninghame-Graham D.S.
dc.contributor.authorVyse T.J.
dc.contributor.authorSun Y.
dc.contributor.authorChen H.
dc.contributor.authorGrayson P.C.
dc.contributor.authorTombetti E.
dc.contributor.authorJiang L.
dc.contributor.authorMason J.C.
dc.contributor.authorMerkel P.A.
dc.contributor.authorDireskeneli H.
dc.contributor.authorSawalha A.H.
dc.date.accessioned2024-07-22T08:06:24Z
dc.date.available2024-07-22T08:06:24Z
dc.date.issued2021
dc.description.abstractTakayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered HLA risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced IL12B, PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p < 5 × 10−5) and devised a genetic risk score for Takayasu arteritis. Takayasu arteritis was compared to hundreds of other traits, revealing the closest genetic relatedness to inflammatory bowel disease. Epigenetic patterns within risk loci suggest roles for monocytes and B cells in Takayasu arteritis. This work enhances understanding of the genetic basis and pathophysiology of Takayasu arteritis and provides clues for potential new therapeutic targets. © 2020 American Society of Human Genetics
dc.identifier.DOI-ID10.1016/j.ajhg.2020.11.014
dc.identifier.issn00029297
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/13502
dc.language.isoEnglish
dc.publisherCell Press
dc.rightsAll Open Access; Bronze Open Access
dc.subjectCase-Control Studies
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectGenome-Wide Association Study
dc.subjectHumans
dc.subjectInflammatory Bowel Diseases
dc.subjectMale
dc.subjectPolymorphism, Single Nucleotide
dc.subjectTakayasu Arteritis
dc.subjectfocal adhesion kinase 1
dc.subjectinterleukin 12p40
dc.subjectaortic arch syndrome
dc.subjectArticle
dc.subjectB lymphocyte
dc.subjectCFL2 gene
dc.subjectchromosome 13q
dc.subjectchromosome 21q
dc.subjectcohort analysis
dc.subjectcontrolled study
dc.subjectepigenetics
dc.subjectETS2 gene
dc.subjectgene
dc.subjectgene mapping
dc.subjectgenetic predisposition
dc.subjectgenetic risk score
dc.subjectgenome-wide association study
dc.subjectHLA system
dc.subjecthuman
dc.subjectIL12B gene
dc.subjectinflammatory bowel disease
dc.subjectmajor clinical study
dc.subjectmonocyte
dc.subjectpathophysiology
dc.subjectpriority journal
dc.subjectPTK2B gene
dc.subjectrisk factor
dc.subjectsusceptibility locus
dc.subjectSVEP1 gene
dc.subjectVPS8 gene
dc.subjectaortic arch syndrome
dc.subjectcase control study
dc.subjectfemale
dc.subjectgenetics
dc.subjectgenome-wide association study
dc.subjectmale
dc.subjectmeta analysis
dc.subjectprocedures
dc.subjectsingle nucleotide polymorphism
dc.titleIdentification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study
dc.typeArticle

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