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Oklahoma City, Oklahoma 73104


The Lupus Genetics Studies and Lupus Family Registry & Repository are working to find the genes that reveal the causes of systemic lupus erythematosus (SLE, or lupus). The study is enrolling families of all ethnic backgrounds from the United States, Canada, Puerto Rico, and the Virgin Islands that have one or more living members diagnosed with SLE.

Study summary:

SLE is an often crippling and potentially fatal autoimmune disease that is nine times more prevalent in women than in men, and four times more likely to affect African American females than Caucasian females. It is suspected that a genetic predisposition along with environmental factors contribute to the clinical manifestation of SLE. The Lupus Genetics Studies consist of several familial SLE studies, including the Lupus Family Registry & Repository (LFRR, formerly known as the Lupus Multiplex Registry & Repository, or LMRR). The Lupus Studies enroll families of all ethnicities with one or more members diagnosed with systemic lupus to determine what genes contribute to the development of the disease. Additionally, the Lupus Family Registry & Repository is the largest repository of its kind in North America. In addition to the research done on site, the Repository serves as a national resource for scientists interested in conducting research on SLE and families either simplex or multiplex for lupus. Data, serum samples, and DNA samples are available to researchers. By collecting families in which two or more living individuals have been diagnosed with SLE, the study is utilizing the genetic link between the affected family members to discover disease-associated genes. Records will be requested from the patients' treating physicians to document various lupus symptoms and related problems. One-time blood samples will be collected from the patients as well as from certain family members and an unrelated volunteer. There is no cost to participate and the study pays for sample draws and shipping.


Inclusion Criteria: - Families in which one or more living members have been diagnosed with systemic lupus erythematosus

Study is Available At:

Original ID:




Secondary ID:


Study Acronym:


Brief Title:

Lupus Genetics Studies

Official Title:

Lupus Genetic Studies; Lupus Family Registry & Repository

Overall Status:


Study Phase:




Minimum Age:


Maximum Age:


Quick Facts

Healthy Volunteers
Oversight Has DMC
Study Is FDA Regulated
Study Is Section 801
Has Expanded Access

Study Source:

Oklahoma Medical Research Foundation

Oversight Authority:

United States: Federal Government

Reasons Why Stopped:

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Study Design:

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Number of Groups:


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Enrollment Type:


Overall Contact Information

Official Name:John B. Harley, MD, PhD
Principal Investigator
Member & Program Head, Arthritis and Immunology Research Program; Oklahoma Medical Research Foun

Study Dates

Start Date:October 1995
Completion Date:November 2013
Completion Type:Actual
Primary Completion Date:September 2012
Primary Completion Type:Actual
Verification Date:September 2017
Last Changed Date:September 15, 2017
First Received Date:October 14, 2003

Study Outcomes

There are no available Study Outcomes

Study Interventions

There are no available Study Interventions

Study Arms

There are no available Study Arms

Study Agencies

Agency Class:Other
Agency Type:Lead Sponsor
Agency Name:Oklahoma Medical Research Foundation
Agency Class:NIH
Agency Type:Collaborator
Agency Name:National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Samples and Retentions

Sample Retention:Samples With DNA
Description: DNA, sera, plasma, cell lines
Study Population: Patients diagnosed with SLE Families with living members diagnosed with SLE
Sample Method:Non-Probability Sample

Study References

Reference Type:Results Reference
Citation:Kochi Y, Yamada R, Suzuki A, Harley JB, Shirasawa S, Sawada T, Bae SC, Tokuhiro S, Chang X, Sekine A, Takahashi A, Tsunoda T, Ohnishi Y, Kaufman KM, Kang CP, Kang C, Otsubo S, Yumura W, Mimori A, Koike T, Nakamura Y, Sasazuki T, Yamamoto K. A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat Genet. 2005 May;37(5):478-85. Epub 2005 Apr 17. Erratum in: Nat Genet. 2005 Jun;37(6):652.
Reference Type:Results Reference
Citation:Lee YH, Harley JB, Nath SK. CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. Hum Genet. 2005 Apr;116(5):361-7. Epub 2005 Feb 2.
Reference Type:Results Reference
Citation:Nath SK, Namjou B, Hutchings D, Garriott CP, Pongratz C, Guthridge J, James JA. Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity. Eur J Hum Genet. 2004 Aug;12(8):668-72. Erratum in: Eur J Hum Genet. 2004 Aug;12(8):688. James JJ [corrected to James JA].
Reference Type:Results Reference
Citation:Nath SK, Namjou B, Kilpatrick J, Garriott CP, Bruner GR, Scofield RH, Harley JB. A candidate region on 11p13 for systemic lupus erythematosus: a linkage identified in African-American families. J Investig Dermatol Symp Proc. 2004 Jan;9(1):64-7.
Reference Type:Results Reference
Citation:Nath SK, Namjou B, Garriott CP, Frank S, Joslin PA, Kilpatrick J, Kelly JA, Harley JB. Linkage analysis of SLE susceptibility: confirmation of SLER1 at 5p15.3. Genes Immun. 2004 May;5(3):209-14.
Reference Type:Results Reference
Citation:Nath SK, Kelly JA, Harley JB, Scofield RH. Mapping the systematic lupus erythematosus susceptibility genes. Methods Mol Med. 2004;102:11-29. Review.
Reference Type:Results Reference
Citation:Sawalha AH, Schmid WR, Binder SR, Bacino DK, Harley JB. Association between systemic lupus erythematosus and Helicobacter pylori seronegativity. J Rheumatol. 2004 Aug;31(8):1546-50.
Reference Type:Results Reference
Citation:Quintero-del-Rio AI, Kelly JA, Garriott CP, Hutchings DC, Frank SG, Aston CE, Harley JB. SLEN2 (2q34-35) and SLEN1 (10q22.3) replication in systemic lupus erythematosus stratified by nephritis. Am J Hum Genet. 2004 Aug;75(2):346-8.
Reference Type:Results Reference
Citation:Sawalha AH, Harley JB. Antinuclear autoantibodies in systemic lupus erythematosus. Curr Opin Rheumatol. 2004 Sep;16(5):534-40. Review.
Reference Type:Results Reference
Citation:Nath SK, Kilpatrick J, Harley JB. Genetics of human systemic lupus erythematosus: the emerging picture. Curr Opin Immunol. 2004 Dec;16(6):794-800. Review.
Reference Type:Results Reference
Citation:Nath SK, Quintero-Del-Rio AI, Kilpatrick J, Feo L, Ballesteros M, Harley JB. Linkage at 12q24 with systemic lupus erythematosus (SLE) is established and confirmed in Hispanic and European American families. Am J Hum Genet. 2004 Jan;74(1):73-82. Epub 2003 Dec 4.
Reference Type:Results Reference
Citation:Heinlen LD, McClain MT, Kim X, Quintero DR, James JA, Harley JB, Scofield RH. Anti-Ro and anti-nRNP response in unaffected family members of SLE patients. Lupus. 2003;12(4):335-7.
Reference Type:Results Reference
Citation:Scofield RH, Bruner GR, Kelly JA, Kilpatrick J, Bacino D, Nath SK, Harley JB. Thrombocytopenia identifies a severe familial phenotype of systemic lupus erythematosus and reveals genetic linkages at 1q22 and 11p13. Blood. 2003 Feb 1;101(3):992-7. Epub 2002 Sep 12.
Reference Type:Results Reference
Citation:Namjou B, Nath SK, Kilpatrick J, Kelly JA, Reid J, James JA, Harley JB. Stratification of pedigrees multiplex for systemic lupus erythematosus and for self-reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLER1) at 5p15.3. Arthritis Rheum. 2002 Nov;46(11):2937-45.
Reference Type:Results Reference
Citation:Tsao BP, Grossman JM, Riemekasten G, Strong N, Kalsi J, Wallace DJ, Chen CJ, Lau CS, Ginzler EM, Goldstein R, Kalunian KC, Harley JB, Arnett FC, Hahn BH, Cantor RM. Familiality and co-occurrence of clinical features of systemic lupus erythematosus. Arthritis Rheum. 2002 Oct;46(10):2678-85.
Reference Type:Results Reference
Citation:Rao S, Olson JM, Moser KL, Gray-McGuire C, Bruner GR, Kelly J, Harley JB. Linkage analysis of human systemic lupus erythematosus-related traits: a principal component approach. Arthritis Rheum. 2001 Dec;44(12):2807-18.
Reference Type:Results Reference
Citation:Moser KL, Gray-McGuire C, Kelly J, Asundi N, Yu H, Bruner GR, Mange M, Hogue R, Neas BR, Harley JB. Confirmation of genetic linkage between human systemic lupus erythematosus and chromosome 1q41. Arthritis Rheum. 1999 Sep;42(9):1902-7.
Reference Type:Results Reference
Citation:Harley JB, Moser KL, Gaffney PM, Behrens TW. The genetics of human systemic lupus erythematosus. Curr Opin Immunol. 1998 Dec;10(6):690-6. Review.
Reference Type:Reference
Citation:Sestak AL, Nath SK, Harley JB. Genetics of systemic lupus erythematosus: how far have we come? Rheum Dis Clin North Am. 2005 May;31(2):223-44, v. Review.
Reference Type:Reference
Citation:Namjou B, Kelly JA, Kilpatrick J, Kaufman KM, Nath SK, Scofield RH, Harley JB. Linkage at 5q14.3-15 in multiplex systemic lupus erythematosus pedigrees stratified by autoimmune thyroid disease. Arthritis Rheum. 2005 Nov;52(11):3646-50.
Reference Type:Reference
Citation:Lee YH, Witte T, Momot T, Schmidt RE, Kaufman KM, Harley JB, Sestak AL. The mannose-binding lectin gene polymorphisms and systemic lupus erythematosus: two case-control studies and a meta-analysis. Arthritis Rheum. 2005 Dec;52(12):3966-74.
Reference Type:Reference
Citation:Xing C, Gray-McGuire C, Kelly JA, Garriott P, Bukulmez H, Harley JB, Olson JM. Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members. Hum Genet. 2005 Dec;118(3-4):309-21. Epub 2005 Sep 28.
Reference Type:Reference
Citation:Nolsøe RL, Kelly JA, Pociot F, Moser KL, Kristiansen OP, Mandrup-Poulsen T, Harley JB. Functional promoter haplotypes of the human FAS gene are associated with the phenotype of SLE characterized by thrombocytopenia. Genes Immun. 2005 Dec;6(8):699-706.
Reference Type:Reference
Citation:Lee YH, Harley JB, Nath SK. Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility. Eur J Hum Genet. 2006 Mar;14(3):364-71.
Reference Type:Reference
Citation:Ramos PS, Kelly JA, Gray-McGuire C, Bruner GR, Leiran AN, Meyer CM, Namjou B, Espe KJ, Ortmann WA, Reichlin M, Langefeld CD, James JA, Gaffney PM, Behrens TW, Harley JB, Moser KL. Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus. Genes Immun. 2006 Jul;7(5):417-32. Epub 2006 Jun 15.
Reference Type:Reference
Citation:Kaufman KM, Kelly JA, Herring BJ, Adler AJ, Glenn SB, Namjou B, Frank SG, Dawson SL, Bruner GR, James JA, Harley JB. Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus. Arthritis Rheum. 2006 Aug;54(8):2533-40.
Reference Type:Reference
Citation:Scofield RH, Bruner GR, Harley JB, Namjou B. Autoimmune thyroid disease is associated with a diagnosis of secondary Sjögren's syndrome in familial systemic lupus. Ann Rheum Dis. 2007 Mar;66(3):410-3. Epub 2006 Sep 19.
Reference Type:Reference
Citation:Forabosco P, Gorman JD, Cleveland C, Kelly JA, Fisher SA, Ortmann WA, Johansson C, Johanneson B, Moser KL, Gaffney PM, Tsao BP, Cantor RM, Alarcón-Riquelme ME, Behrens TW, Harley JB, Lewis CM, Criswell LA. Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus. Genes Immun. 2006 Oct;7(7):609-14. Epub 2006 Sep 14.
Reference Type:Reference
Citation:Harley JB, Kelly JA, Kaufman KM. Unraveling the genetics of systemic lupus erythematosus. Springer Semin Immunopathol. 2006 Oct;28(2):119-30. Epub 2006 Sep 22. Review.
Reference Type:Reference
Citation:Xing C, Sestak AL, Kelly JA, Nguyen KL, Bruner GR, Harley JB, Gray-McGuire C. Localization and replication of the systemic lupus erythematosus linkage signal at 4p16: interaction with 2p11, 12q24 and 19q13 in European Americans. Hum Genet. 2007 Jan;120(5):623-31. Epub 2006 Sep 16.
Reference Type:Reference
Citation:Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, Harley JB. The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis. Rheumatology (Oxford). 2007 Jan;46(1):49-56. Epub 2006 Jun 7. Review.

Data Source: ClinicalTrials.gov

Date Processed: January 21, 2020

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