Genetic Registry for Rheumatoid Arthritis (NARAC)

Genetics of Rheumatoid Arthritis Registry

Many genes are thought to contribute to rheumatoid arthritis (RA). This study will attempt to identify genes that may contribute to RA.

Study Overview

• Status: Completed
• Conditions: Rheumatoid Arthritis

Detailed Description

The identification of genes for complex disorders such as RA requires large numbers of genetically informative families. This study enrolls people diagnosed with with RA and their families.

This study will enroll 1000 RA patients and their parents. Participants with RA will be evaluated at his or her doctor's office or other location convenient for the participant. Participants will have a brief phone interview with a study coordinator and a blood sample will be obtained. Disease evaluation will be done at one visit and will include confirmation of diagnosis, a 28 joint count, joint alignment and mobility score (JAMS) and administration of a health assessment questionnaire.

• Study Type: Observational
• Enrollment (Actual): 1062

Contacts and Locations

Study Locations

• United States
  • New York
    • Manhasset, New York, United States, 11030
      • Feinstein Institute for Medical Research

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Persons with RA who have two living biological parents. Parents can be affected or unaffected with RA. We call the family units "trios".

Description

Inclusion Criteria:

• Adult onset RA
• Diagnosis of RA made between 18 and 60 years old
• Both parents alive and willing to participate
• Parents may have diagnosis of RA (affected) or be unaffected

Exclusion Criteria:

• Inflammatory bowel disease
• Lupus
• Psoriatic arthritis

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genetic Association with risk for rheumatoid arthritis	The project aims to identify risk alleles for rheumatoid arthritis using association methods in trio families, combined with data from singleton cases and multiplex families	10 years

Collaborators and Investigators

• Sponsor: Northwell Health
• Collaborators: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); Arthritis Foundation
• Investigators: Principal Investigator: Peter K. Gregersen, MD, North Shore University Hospital

Publications and helpful links

General Publications

• Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, de Bakker PI, Le JM, Lee HS, Batliwalla F, Li W, Masters SL, Booty MG, Carulli JP, Padyukov L, Alfredsson L, Klareskog L, Chen WV, Amos CI, Criswell LA, Seldin MF, Kastner DL, Gregersen PK. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med. 2007 Sep 6;357(10):977-86. doi: 10.1056/NEJMoa073003.
• Jawaheer D, Li W, Graham RR, Chen W, Damle A, Xiao X, Monteiro J, Khalili H, Lee A, Lundsten R, Begovich A, Bugawan T, Erlich H, Elder JT, Criswell LA, Seldin MF, Amos CI, Behrens TW, Gregersen PK. Dissecting the genetic complexity of the association between human leukocyte antigens and rheumatoid arthritis. Am J Hum Genet. 2002 Sep;71(3):585-94. doi: 10.1086/342407. Epub 2002 Aug 9.
• Jawaheer D, Seldin MF, Amos CI, Chen WV, Shigeta R, Monteiro J, Kern M, Criswell LA, Albani S, Nelson JL, Clegg DO, Pope R, Schroeder HW Jr, Bridges SL Jr, Pisetsky DS, Ward R, Kastner DL, Wilder RL, Pincus T, Callahan LF, Flemming D, Wener MH, Gregersen PK. A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. Am J Hum Genet. 2001 Apr;68(4):927-36. doi: 10.1086/319518. Epub 2001 Mar 9.
• Jawaheer D, Seldin MF, Amos CI, Chen WV, Shigeta R, Etzel C, Damle A, Xiao X, Chen D, Lum RF, Monteiro J, Kern M, Criswell LA, Albani S, Nelson JL, Clegg DO, Pope R, Schroeder HW Jr, Bridges SL Jr, Pisetsky DS, Ward R, Kastner DL, Wilder RL, Pincus T, Callahan LF, Flemming D, Wener MH, Gregersen PK; North American Rheumatoid Arthritis Consortium. Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families. Arthritis Rheum. 2003 Apr;48(4):906-16. doi: 10.1002/art.10989.
• Eyre S, Bowes J, Diogo D, Lee A, Barton A, Martin P, Zhernakova A, Stahl E, Viatte S, McAllister K, Amos CI, Padyukov L, Toes RE, Huizinga TW, Wijmenga C, Trynka G, Franke L, Westra HJ, Alfredsson L, Hu X, Sandor C, de Bakker PI, Davila S, Khor CC, Heng KK, Andrews R, Edkins S, Hunt SE, Langford C, Symmons D; Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate; Wellcome Trust Case Control Consortium; Concannon P, Onengut-Gumuscu S, Rich SS, Deloukas P, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Arlsetig L, Martin J, Rantapaa-Dahlqvist S, Plenge RM, Raychaudhuri S, Klareskog L, Gregersen PK, Worthington J. High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet. 2012 Dec;44(12):1336-40. doi: 10.1038/ng.2462. Epub 2012 Nov 11.
• Raychaudhuri S, Sandor C, Stahl EA, Freudenberg J, Lee HS, Jia X, Alfredsson L, Padyukov L, Klareskog L, Worthington J, Siminovitch KA, Bae SC, Plenge RM, Gregersen PK, de Bakker PI. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Genet. 2012 Jan 29;44(3):291-6. doi: 10.1038/ng.1076.
• Gregersen PK, Amos CI, Lee AT, Lu Y, Remmers EF, Kastner DL, Seldin MF, Criswell LA, Plenge RM, Holers VM, Mikuls TR, Sokka T, Moreland LW, Bridges SL Jr, Xie G, Begovich AB, Siminovitch KA. REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. Nat Genet. 2009 Jul;41(7):820-3. doi: 10.1038/ng.395. Epub 2009 Jun 7.
• Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, Liew A, Khalili H, Chandrasekaran A, Davies LR, Li W, Tan AK, Bonnard C, Ong RT, Thalamuthu A, Pettersson S, Liu C, Tian C, Chen WV, Carulli JP, Beckman EM, Altshuler D, Alfredsson L, Criswell LA, Amos CI, Seldin MF, Kastner DL, Klareskog L, Gregersen PK. TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med. 2007 Sep 20;357(12):1199-209. doi: 10.1056/NEJMoa073491. Epub 2007 Sep 5.

Study record dates

Study Major Dates

• Study Start: October 1, 2002
• Primary Completion (Actual): August 1, 2015
• Study Completion (Actual): August 1, 2015

Study Registration Dates

• First Submitted: September 25, 2003
• First Submitted That Met QC Criteria: September 26, 2003
• First Posted (Estimate): September 29, 2003

Study Record Updates

• Last Update Posted (Estimate): September 10, 2015
• Last Update Submitted That Met QC Criteria: September 9, 2015
• Last Verified: September 1, 2015

More Information

Terms related to this study

• Keywords: Genetics
• Additional Relevant MeSH Terms: Immune System Diseases; Autoimmune Diseases; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Connective Tissue Diseases; Arthritis; Arthritis, Rheumatoid
• Other Study ID Numbers: NIAMS-107; N01AR72232-001 (U.S. NIH Grant/Contract)