Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons

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Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons

Li, He (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Hlth Sci Ctr, Dept Pathol, Oklahoma City, OK USA.;Univ Calif San Diego, Inst Genom Med, La Jolla, CA 92093 USA.,Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA; University of Calif San Diego, CA 92093 USA

Reksten, Tove Ragna (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Bergen, Dept Clin Sci, Broegelmann Res Lab, Bergen, Norway.,Oklahoma Medical Research Fdn, OK 73104 USA; University of Bergen, Norway

Ice, John A. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

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Kelly, Jennifer A. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

Adrianto, Indra (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

Rasmussen, Astrid (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

Wang, Shaofeng (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

He, Bo (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Hlth Sci Ctr, Dept Pathol, Oklahoma City, OK USA.,Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA

Grundahl, Kiely M. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

Glenn, Stuart B. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

Miceli-Richard, Corinne (författare): Univ Paris Sud, Hop Univ Paris Sud, AP HP, INSERM,U1012, Le Kremlin Bicetre, France.,University of Paris Sud, France

Bowman, Simon (författare): Univ Hosp Birmingham, Rheumatol Dept, Birmingham, W Midlands, England.,University Hospital Birmingham, England

Lester, Sue (författare): Queen Elizabeth Hosp, Adelaide, SA, Australia.,Queen Elizabeth Hospital, Australia

Eriksson, Per, 1958- (författare): Linköpings universitet,Avdelningen för neuro- och inflammationsvetenskap,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland

Eloranta, Maija-Leena (författare): Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden

Brun, Johan G. (författare): Univ Bergen, Dept Clin Sci, Bergen, Norway.;Haukeland Hosp, Dept Rheumatol, Bergen, Norway.,University of Bergen, Norway; Haukeland Hospital, Norway

Goransson, Lasse G. (författare): Stavanger Univ Hosp, Dept Internal Med, Clin Immunol Unit, Stavanger, Norway.,Stavanger University Hospital, Norway

Harboe, Erna (författare): Stavanger Univ Hosp, Dept Internal Med, Clin Immunol Unit, Stavanger, Norway.,Stavanger University Hospital, Norway

Guthridge, Joel M. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

Kaufman, Kenneth M. (författare): Cincinnati Childrens Hosp Med Ctr, Div Rheurnatol, Cincinnati, OH 45229 USA.;US Dept Vet Affairs, Med Ctr, Cincinnati, OH USA.,Cincinnati Childrens Hospital Medical Centre, OH 45229 USA; US Department Vet Affairs, OH USA

Kvarnstrom, Marika (författare): Karolinska Institutet,Karolinska Inst, Dept Med, Stockholm, Sweden.,Karolinska Institute, Sweden

Graham, Deborah S. Cunninghame (författare): Kings Coll London, Dept Med & Mol Genet, London, England.

Patel, Ketan (författare): Univ Minnesota, Sch Dent, Dept Dev & Surg Sci, Div Oral & Maxillofacial Surg, Minneapolis, MN 55455 USA.;North Mem Med Ctr, Dept Oral & Maxillofacial Surg, Robbinsdale, MN USA.,University of Minnesota, MN 55455 USA; North Mem Medical Centre, MN USA

Adler, Adam J. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Hlth Sci Ctr, Dept Pathol, Oklahoma City, OK USA.;Univ Oklahoma, Hlth Sci Ctr, Dept Med, Oklahoma City, OK USA.,Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA; University of Oklahoma, OK USA

Farris, A. Darise (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Hlth Sci Ctr, Dept Pathol, Oklahoma City, OK USA.,Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA

Brennan, Michael T. (författare): Carolinas Med Ctr, Dept Oral Med, Charlotte, NC 28203 USA.,Carolinas Medical Centre, NC 28203 USA

Chodosh, James (författare): Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Boston, MA USA.,Harvard Medical Sch, MA USA

Gopalakrishnan, Rajaram (författare): Univ Minnesota, Sch Dent, Dept Diagnost & Biol Sci, Div Oral Pathol, Minneapolis, MN 55455 USA.,University of Minnesota, MN 55455 USA

Weisman, Michael H. (författare): Cedars Sinai Med Ctr, Div Rheumatol, Los Angeles, CA 90048 USA.,Cedars Sinai Medical Centre, CA 90048 USA

Venuturupalli, Swamy (författare): Cedars Sinai Med Ctr, Div Rheumatol, Los Angeles, CA 90048 USA.,Cedars Sinai Medical Centre, CA 90048 USA

Wallace, Daniel J. (författare): Cedars Sinai Med Ctr, Div Rheumatol, Los Angeles, CA 90048 USA.,Cedars Sinai Medical Centre, CA 90048 USA

Hefner, Kimberly S. (författare): Cedars Sinai Med Ctr, Div Rheumatol, Los Angeles, CA 90048 USA.;Hefner Eye Care & Opt Ctr, Oklahoma City, OK USA.,Cedars Sinai Medical Centre, CA 90048 USA; Hefner Eye Care and Opt Centre, OK USA

Houston, Glen D. (författare): Univ Oklahoma, Coll Dent, Dept Oral & Maxillofacial Pathol, Oklahoma City, OK USA.;Heartland Pathol Consultants, Edmond, OK USA.,University of Oklahoma, OK USA; Heartland Pathol Consultants, OK USA

Huang, Andrew J. W. (författare): Washington Univ, Dept Ophthalmol & Visual Sci, St Louis, MO 63130 USA.,Washington University, MO 63130 USA

Hughes, Pamela J. (författare): Univ Minnesota, Sch Dent, Dept Dev & Surg Sci, Div Oral & Maxillofacial Surg, Minneapolis, MN 55455 USA.,University of Minnesota, MN 55455 USA

Lewis, David M. (författare): Univ Oklahoma, Coll Dent, Dept Oral & Maxillofacial Pathol, Oklahoma City, OK USA.,University of Oklahoma, OK USA

Radfar, Lida (författare): Univ Oklahoma, Coll Dent, Oral Diagnosis & Radiol Dept, Oklahoma City, OK USA.,University of Oklahoma, OK USA

Vista, Evan S. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Santo Tomas Hosp, Manila, Philippines.,Oklahoma Medical Research Fdn, OK 73104 USA; University of Santo Tomas Hospital, Philippines

Edgar, Contessa E. (författare): Oklahoma Baptist Univ, Biol Dept, Oklahoma City, OK USA.,Oklahoma Baptist University, OK USA

Rohrer, Michael D. (författare): Univ Minnesota, Sch Dent, Hard Tissue Res Lab, Minneapolis, MN 55455 USA.,University of Minnesota, MN 55455 USA

Stone, Donald U. (författare): Johns Hopkins Univ, Dept Ophthalmol, Baltimore, MD USA.,Johns Hopkins University, MD USA

Vyse, Timothy J. (författare): Kings Coll London, Dept Med & Mol Genet, London, England.

Harley, John B. (författare): Cincinnati Childrens Hosp Med Ctr, Div Rheurnatol, Cincinnati, OH 45229 USA.;US Dept Vet Affairs, Med Ctr, Cincinnati, OH USA.,Cincinnati Childrens Hospital Medical Centre, OH 45229 USA; US Department Vet Affairs, OH USA

Gaffney, Patrick M. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

James, Judith A. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Hlth Sci Ctr, Dept Pathol, Oklahoma City, OK USA.;Univ Oklahoma, Hlth Sci Ctr, Dept Med, Oklahoma City, OK USA.

Turner, Sean (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

Alevizos, Ilias (författare): Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD USA.,National Institute Dent and Craniofacial Research, MD USA

Anaya, Juan-Manuel (författare): Univ Rosario, Cente Autoimmune Dis Res, Bogota, Colombia.,University of Rosario, Colombia

Rhodus, Nelson L. (författare): Univ Minnesota, Sch Dent, Dept Oral Surg, Minneapolis, MN 55455 USA.,University of Minnesota, MN 55455 USA

Segal, Barbara M. (författare): Univ Minnesota, Sch Med, Div Rheumatol, Minneapolis, MN 55455 USA.,University of Minnesota, MN 55455 USA

Montgomery, Courtney G. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

Scofield, R. Hal (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Hlth Sci Ctr, Dept Med, Oklahoma City, OK USA.;US Dept Vet Affairs, Med Ctr, Oklahoma City, OK USA.,Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA; US Department Vet Affairs, OK USA

Kovats, Susan (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Fdn, OK 73104 USA

Mariette, Xavier (författare): Univ Paris Sud, Hop Univ Paris Sud, AP HP, INSERM,U1012, Le Kremlin Bicetre, France.,University of Paris Sud, France

Rönnblom, Lars (författare): Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden

Witte, Torsten (författare): Hannover Med Sch, Clin Immunol & Rheumatol, Hannover, Germany.,Hannover Medical Sch, Germany

Rischmueller, Maureen (författare): Queen Elizabeth Hosp, Adelaide, SA, Australia.;Univ Adelaide, Adelaide, SA, Australia.,Queen Elizabeth Hospital, Australia; University of Adelaide, Australia

Wahren-Herlenius, Marie (författare): Karolinska Institutet,Karolinska Inst, Dept Med, Stockholm, Sweden.,Karolinska Institute, Sweden

Omdal, Roald (författare): Stavanger Univ Hosp, Dept Internal Med, Clin Immunol Unit, Stavanger, Norway.,Stavanger University Hospital, Norway

Jonsson, Roland (författare): Univ Bergen, Dept Clin Sci, Broegelmann Res Lab, Bergen, Norway.;Haukeland Hosp, Dept Rheumatol, Bergen, Norway.,University of Bergen, Norway; Haukeland Hospital, Norway

Ng, Wan-Fai (författare): Newcastle Univ, Inst Cellular Med, Newcastle Upon Tyne, Tyne & Wear, England.;Newcastle Univ, NIHR Newcastle Biomed Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England.,Newcastle University, England; Newcastle University, England

Nordmark, Gunnel (författare): Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden

Lessard, Christopher J. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Hlth Sci Ctr, Dept Pathol, Oklahoma City, OK USA.,Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA

Sivils, Kathy L. (författare): Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Hlth Sci Ctr, Dept Pathol, Oklahoma City, OK USA.,Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA

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Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA;Univ Oklahoma, Hlth Sci Ctr, Dept Pathol, Oklahoma City, OK USA.;Univ Calif San Diego, Inst Genom Med, La Jolla, CA 92093 USA. Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA; University of Calif San Diego, CA 92093 USA (creator_code:org_t)

2017-06-22
2017
Engelska.
Ingår i: PLOS Genetics. - : PUBLIC LIBRARY SCIENCE. - 1553-7390 .- 1553-7404. ; 13:6

Relaterad länk:: https://doi.org/10.1...; visa fler...; https://uu.diva-port... (primary) (Raw object); https://journals.plo...; https://liu.diva-por... (primary) (Raw object); https://urn.kb.se/re...; https://doi.org/10.1...; http://kipublication...; https://urn.kb.se/re...; visa färre...

Tidskriftsartikel (refereegranskat)

Abstract Ämnesord

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Sjogren's syndrome (SS) is a common, autoimmune exocrinopathy distinguished by keratoconjunctivitis sicca and xerostomia. Patients frequently develop serious complications including lymphoma, pulmonary dysfunction, neuropathy, vasculitis, and debilitating fatigue. Dysregulation of type I interferon (IFN) pathway is a prominent feature of SS and is correlated with increased autoantibody titers and disease severity. To identify genetic determinants of IFN pathway dysregulation in SS, we performed cis-expression quantitative trait locus (eQTL) analyses focusing on differentially expressed type I IFN-inducible transcripts identified through a transcriptome profiling study. Multiple cis-eQTLs were associated with transcript levels of 2'-5'-oligoadenylate synthetase 1 (OAS1) peaking at rs10774671 (PeQTL = 6.05 x 10(-14)). Association of rs10774671 with SS susceptibility was identified and confirmed through meta-analysis of two independent cohorts (P-meta = 2.59 x 10(-9); odds ratio = 0.75; 95% confidence interval = 0.66-0.86). The risk allele of rs10774671 shifts splicing of OAS1 from production of the p46 isoform to multiple alternative transcripts, including p42, p48, and p44. We found that the isoforms were differentially expressed within each genotype in controls and patients with and without autoantibodies. Furthermore, our results showed that the three alternatively spliced isoforms lacked translational response to type I IFN stimulation. The p48 and p44 isoforms also had impaired protein expression governed by the 3' end of the transcripts. The SS risk allele of rs10774671 has been shown by others to be associated with reduced OAS1 enzymatic activity and ability to clear viral infections, as well as reduced responsiveness to IFN treatment. Our results establish OAS1 as a risk locus for SS and support a potential role for defective viral clearance due to altered IFN response as a genetic pathophysiological basis of this complex autoimmune disease.

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Av författaren/redakt...: Li, He; Reksten, Tove Ra ...; Ice, John A.; Kelly, Jennifer ...; Adrianto, Indra; Rasmussen, Astri ...; visa fler...; Wang, Shaofeng; He, Bo; Grundahl, Kiely ...; Glenn, Stuart B.; Miceli-Richard, ...; Bowman, Simon; Lester, Sue; Eriksson, Per, 1 ...; Eloranta, Maija- ...; Brun, Johan G.; Goransson, Lasse ...; Harboe, Erna; Guthridge, Joel ...; Kaufman, Kenneth ...; Kvarnstrom, Mari ...; Graham, Deborah ...; Patel, Ketan; Adler, Adam J.; Farris, A. Daris ...; Brennan, Michael ...; Chodosh, James; Gopalakrishnan, ...; Weisman, Michael ...; Venuturupalli, S ...; Wallace, Daniel ...; Hefner, Kimberly ...; Houston, Glen D.; Huang, Andrew J. ...; Hughes, Pamela J ...; Lewis, David M.; Radfar, Lida; Vista, Evan S.; Edgar, Contessa ...; Rohrer, Michael ...; Stone, Donald U.; Vyse, Timothy J.; Harley, John B.; Gaffney, Patrick ...; James, Judith A.; Turner, Sean; Alevizos, Ilias; Anaya, Juan-Manu ...; Rhodus, Nelson L ...; Segal, Barbara M ...; Montgomery, Cour ...; Scofield, R. Hal; Kovats, Susan; Mariette, Xavier; Rönnblom, Lars; Witte, Torsten; Rischmueller, Ma ...; Wahren-Herlenius ...; Omdal, Roald; Jonsson, Roland; Ng, Wan-Fai; Nordmark, Gunnel; Lessard, Christo ...; Sivils, Kathy L.; visa färre...

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Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons

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