A plausibly causal functional lupus-associated risk variant in the STAT1–STAT4 locus

Author:

Patel Zubin H123,Lu Xiaoming12,Miller Daniel2,Forney Carmy R2,Lee Joshua2,Lynch Arthur2,Schroeder Connor2,Parks Lois2,Magnusen Albert F2,Chen Xiaoting2,Pujato Mario2,Maddox Avery2,Zoller Erin E2,Namjou Bahram24,Brunner Hermine I5,Henrickson Michael5,Huggins Jennifer L5,Williams Adrienne H6,Ziegler Julie T6,Comeau Mary E6,Marion Miranda C6,Glenn Stuart B7,Adler Adam7,Shen Nan284,Nath Swapan K7,Stevens Anne M910,Freedman Barry I11,Pons-Estel Bernardo A12,Tsao Betty P13,Jacob Chaim O14,Kamen Diane L13,Brown Elizabeth E1516,Gilkeson Gary S13,Alarcón Graciela S16,Martin Javier17,Reveille John D18,Anaya Juan-Manuel19,James Judith A72021,Sivils Kathy L7,Criswell Lindsey A22,Vilá Luis M23,Petri Michelle24,Scofield R Hal72025,Kimberly Robert P16,Edberg Jeffrey C16,Ramsey-Goldman Rosalind26,Bang So-Young27,Lee Hye-Soon27,Bae Sang-Cheol27,Boackle Susan A28,Cunninghame Graham Deborah29,Vyse Timothy J29ORCID,Merrill Joan T720,Niewold Timothy B30,Ainsworth Hannah C6,Silverman Earl D31,Weisman Michael H32,Wallace Daniel J32,Raj Prithvi33,Guthridge Joel M72021,Gaffney Patrick M7,Kelly Jennifer A7,Alarcón-Riquelme Marta E3435,Langefeld Carl D6,Wakeland Edward K33,Kaufman Kenneth M236437,Weirauch Matthew T2437,Harley John B2364,Kottyan Leah C24ORCID

Affiliation:

1. Immunology Graduate Program, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA

2. Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

3. Medical Scientist Training Program, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA

4. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45220, USA

5. Division of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

6. Center for Public Health Genomics and the Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA

7. Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA

8. Shanghai Institute of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200001, P.R. China

9. Center for Immunity and Immunotherapies, Seattle Children’s Research Institute, Seattle, WA 98101, USA

10. Division of Rheumatology, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA

11. Section on Nephrology, Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA

12. Servicio de Reumatología, Sanatorio Parque, Rosario 2000, Santa Fe, Argentina

13. Division of Rheumatology and Immunology, Medical University of South Carolina, Charleston, SC 29425, USA

14. Department of Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA

15. Division of Molecular and Cellular Pathology, Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, 35294, United States of America

16. Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA

17. Instituto de Parasitologia y Biomedicina Lopez-Neyra, CSIC, Granada 18001-18016, Spain

18. Rheumatology and Clinical Immunogenetics, University of Texas Health Science Center at Houston, Houston, TX 77030, USA

19. Center for Autoimmune Diseases Research (CREA), Universidad del Rosario, Bogota 111711, Colombia

20. Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, United States of America

21. Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA

22. Department of Medicine, Rosalind Russell/Ephraim P Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, CA 94143-0500, USA

23. Division of Rheumatology, Department of Medicine, University of Puerto Rico Medical Sciences Campus, San Juan, PR 00936, USA

24. Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA

25. United States Department of Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA

26. Division of Rheumatology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA

27. Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 04763, Korea

28. Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO 80045, USA

29. Divisions of Genetics/Molecular Medicine and Immunology, King’s College London, Guy’s Hospital, London SE1 9RT, UK

30. Division of Rheumatology, Department of Pathology, New York University, New York, NY 10016, USA

31. Division of Rheumatology, The Hospital for Sick Children, Hospital for Sick Research Institute, University of Toronto, Toronto, ON M5G 1X8, Canada

32. Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA

33. Department of Immunology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA

34. Unit of Chronic Inflammatory Diseases, Institute of Environmental Medicine, Karolinska Institutet, Stockholm 17167, Sweden

35. Center for Genomics and Oncological Research, Pfizer-University of Granada-Junta de Andalucia, Parque Tecnológica de la Salud, Granada 18016, Spain

36. United States Department of Veterans Affairs Medical Center, Cincinnati, OH 45220, USA

37. Divisions of Biomedical Informatics and Developmental Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA

Funder

NIH

Department of Veteran Affairs and Defense

National Institutes of Health

Cincinnati Children’s Research Foundation Endowed Scholar Award

Lupus Research Alliance “Novel Approaches” Award

Kirkland Scholar Award, National Basic Research

National Natural Science Foundation of China

State Key Laboratory of Oncogenes and Related Genes

Key Research Program of the Chinese Academy of Sciences

Program of the Shanghai Commission of Science and Technology

Proyecto de Excelencia of the Junta de Andalucía

Arthritis Foundation, Alliance for Lupus Research “Target Identification in Lupus”

Spaulding Paolozzi Autoimmunity Center of Excellence

Richard M Silver MD Endowment for Inflammation Research

SmartState Center of Economic Excellence in Inflammation and Fibrosis

Korea Healthcare technology R&D Project

Ministry for Health and Welfare

Republic of Korea

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference94 articles.

1. A revised estimate of twin concordance in systemic lupus erythematosus;Deafen;Arthritis. Rheum,1992

2. Recent insights into the genetic basis of systemic lupus erythematosus;Moser;Genes Immun,2009

3. Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1, 177 lupus patients from the GLADEL cohort;Alarcón-Segovia;Arthritis. Rheum,2005

4. Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree;Sestak;J. Rheumatol,1999

5. A family survey of lupus erythematosus. 1. Heritability;Lawrence;J. Rheumatol,1987

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