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Search: WFRF:(Colombel Jean Frederic) > (2020-2024) > Human Leukocyte Ant...

  • Zheng, TenghaoKarolinska Institute,Monash University,Monash Univ, Australia; Karolinska Inst, Sweden (author)

Human Leukocyte Antigen Signatures as Pathophysiological Discriminants of Microscopic Colitis Subtypes

  • Article/chapterEnglish2024

Publisher, publication year, extent ...

  • OXFORD UNIV PRESS,2024
  • 11 s.

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:8ee4455e-30c9-4ed5-b985-fd248c7f5cbb
  • https://lup.lub.lu.se/record/8ee4455e-30c9-4ed5-b985-fd248c7f5cbbURI
  • https://doi.org/10.1093/ecco-jcc/jjad165DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:153972347URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-198977URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • Funding Agencies|Swedish Research Council [VR 2017-02403]
  • Background and Aims: Microscopic colitis [MC] is currently regarded as an inflammatory bowel disease that manifests as two subtypes: collagenous colitis [CC] and lymphocytic colitis [LC]. Whether these represent a clinical continuum or distinct entities is, however, an open question. Genetic investigations may contribute important insight into their respective pathophysiologies. Methods: We conducted a genome-wide association study [GWAS] meta-analysis in 1498 CC, 373 LC patients, and 13 487 controls from Europe and the USA, combined with publicly available MC GWAS data from UK Biobank and FinnGen [2599 MC cases and 552 343 controls in total]. Human leukocyte antigen [HLA] alleles and polymorphic residues were imputed and tested for association, including conditional analyses for the identification of key causative variants and residues. Genetic correlations with other traits and diagnoses were also studied. Results: We detected strong HLA association with CC, and conditional analyses highlighted the DRB1*03:01 allele and its residues Y26, N77, and R74 as key to this association (best p = 1.4 × 10-23, odds ratio [OR] = 1.96). Nominally significant genetic correlations were detected between CC and pneumonia [rg = 0.77; p = 0.048] and oesophageal diseases [rg = 0.45, p = 0.023]. An additional locus was identified in MC GWAS analyses near the CLEC16A and RMI2 genes on chromosome 16 [rs35099084, p = 2.0 × 10-8, OR = 1.31]. No significant association was detected for LC. Conclusion: Our results suggest CC and LC have distinct pathophysiological underpinnings, characterised by an HLA predisposing role only in CC. This challenges existing classifications, eventually calling for a re-evaluation of the utility of MC umbrella definitions.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Roda, GiuliaNational Institute Of Biostructures And Biosystems,Biostruct & Biosyst Natl Inst, Italy (author)
  • Zabana, YamileCIBER Enfermedades Hepaticas y Digestivas (CIBER-ehd),Mutua De Terrassa Hospital,Hosp Univ Mutua Terrassa, Spain; Ctr Invest Biomed Red Enfermedades Hepat & Digest, Spain (author)
  • Escudero-Hernández, CeliaLinköpings universitet,Linköping University,University of Kiel,Avdelningen för molekylär medicin och virologi,Medicinska fakulteten,Univ Kiel, Germany; Univ Med Ctr Schleswig Holstein, Germany(Swepub:liu)celes93 (author)
  • Liu, XingrongKarolinska Institutet,Karolinska Institute,Karolinska Inst, Sweden (author)
  • Chen, YeMassachusetts General Hospital,Massachusetts Gen Hosp, MA USA (author)
  • Tavares, Leticia CamargoMonash University,Monash Univ, Australia (author)
  • Bonfiglio, FerdinandoKarolinska Institute,Monash University,Monash Univ, Australia; Karolinska Inst, Sweden (author)
  • Mellander, Marie RoseSkåne University Hospital,Lund Univ, Sweden (author)
  • Janczewska, IzabellaErsta Hospital,Ersta Hosp, Sweden (author)
  • Vigren, LinaLund University,Lunds universitet,Gastroenterologi,Forskargrupper vid Lunds universitet,Gastroenterology,Lund University Research Groups,Lund Univ, Sweden(Swepub:lu)med-lvi (author)
  • Sjöberg, KlasLund University,Lunds universitet,Gastroenterologi,Forskargrupper vid Lunds universitet,LTH profilområde: Avancerade ljuskällor,LTH profilområden,Lunds Tekniska Högskola,LU profilområde: Ljus och material,Lunds universitets profilområden,Gastroenterology,Lund University Research Groups,LTH Profile Area: Photon Science and Technology,LTH Profile areas,Faculty of Engineering, LTH,LU Profile Area: Light and Materials,Lund University Profile areas,Skåne University Hospital,Lund Univ, Sweden(Swepub:lu)medf-ksj (author)
  • Ohlsson, BodilLund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups,Skåne University Hospital,Lund Univ, Sweden(Swepub:lu)kir-boh (author)
  • Almer, SvenKarolinska Institutet,Karolinska Univ Hosp, Sweden,Karolinska University Hospital (author)
  • Halfvarson, JonasÖrebro University Hospital,Orebro Univ Hosp, Sweden (author)
  • Miehlke, StephanUniversity Medical Center Hamburg-Eppendorf,Univ Hosp Eppendorf, Germany (author)
  • Madisch, AhmedCRH Clin Siloah, Germany (author)
  • Lieb, WolfgangUniversity of Kiel,Christian Albrechts Univ Kiel, Germany (author)
  • Kupčinskas, JuozasLithuanian University of Health Sciences,Lithuanian Univ Hlth Sci, Lithuania (author)
  • Weersma, Rinse K.University Medical Center Groningen,Univ Groningen, Netherlands; Univ Med Ctr Groningen, Netherlands (author)
  • Bujanda, LuisHospital Universitario Donostia,CIBER Enfermedades Hepaticas y Digestivas (CIBER-ehd),Ctr Invest Biomed Red Enfermedades Hepat & Digest, Spain; Donostia University Hospital, Spain (author)
  • Julià, AntonioVall d'Hebron University Hospital,Vall Hebron Res Inst, Spain (author)
  • Marsal, SaraVall d'Hebron University Hospital,Vall Hebron Res Inst, Spain (author)
  • Esteve, MariaMutua De Terrassa Hospital,CIBER Enfermedades Hepaticas y Digestivas (CIBER-ehd),Hosp Univ Mutua Terrassa, Spain; Ctr Invest Biomed Red Enfermedades Hepat & Digest, Spain (author)
  • Guagnozzi, DanilaVall d'Hebron University Hospital,CIBER Enfermedades Hepaticas y Digestivas (CIBER-ehd),Ctr Invest Biomed Red Enfermedades Hepat & Digest, Spain; Vall Hebron Univ Hosp, Spain (author)
  • Fernández-Bañares, FernandoCIBER Enfermedades Hepaticas y Digestivas (CIBER-ehd),Mutua De Terrassa Hospital,Hosp Univ Mutua Terrassa, Spain; Ctr Invest Biomed Red Enfermedades Hepat & Digest, Spain (author)
  • Ferrer, CarmenMutua De Terrassa Hospital,Hosp Univ Mutua Terrassa, Spain (author)
  • Peter, IngaIcahn School of Medicine at Mount Sinai,Icahn Sch Med Mt Sinai, NY USA (author)
  • Ludvigsson, Jonas F.Karolinska Institutet,Karolinska Institute,Karolinska Inst, Sweden (author)
  • Pardi, DarrellMayo Clinic Minnesota,Mayo Clin, MN USA (author)
  • Verhaegh, BasMaastricht University,Maastricht Univ, Netherlands (author)
  • Jonkers, DaisyMaastricht University,Maastricht Univ, Netherlands (author)
  • Pierik, MariekeMaastricht University,Maastricht Univ, Netherlands (author)
  • Münch, AndreasLinköpings universitet,Linköping University,Center For Cooperative Research In Biosciences (CIC bioGUNE),Avdelningen för molekylär medicin och virologi,Institutionen för hälsa, medicin och vård,Medicinska fakulteten,Region Östergötland, Mag- tarmmedicinska kliniken(Swepub:liu)andsa76 (author)
  • Franke, AndreUniversity of Kiel,Univ Kiel, Germany (author)
  • Bresso, FrancescaKarolinska Institutet,Karolinska Univ Hosp, Sweden,Karolinska University Hospital (author)
  • Khalili, HamedMassachusetts Institute of Technology,Massachusetts General Hospital,Massachusetts Gen Hosp, MA USA; Broad Inst Massachusetts Inst Technol & Harvard, MA USA (author)
  • Colombel, Jean FredericIcahn School of Medicine at Mount Sinai,Icahn Sch Med Mt Sinai, NY USA (author)
  • D’Amato, MauroKarolinska Institute,Basque Foundation for Science,Center For Cooperative Research In Biosciences (CIC bioGUNE),Karolinska Inst, Sweden; CIC bioGUNE BRTA, Spain; Basque Fdn Sci, Spain; LUM Univ, Italy (author)
  • Presser, Lance (author)
  • Teirlinck, Anne (author)
  • Knol, Mirjam (author)
  • Piqueras, MartaConsorci Sanitari de Terrassa (author)
  • Busquets, DavidHospital Universitari de Girona Dr. Josep Trueta (author)
  • Iglesias, EvaHospital Universitario Reina Sofia (author)
  • Lucendo, Alfredo J.CIBER Enfermedades Hepaticas y Digestivas (CIBER-ehd) (author)
  • Karolinska InstituteMonash University (creator_code:org_t)
  • MC-Europe GETECCU GWAS group

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