Clinical trial NCT00235378: Genetic Study of Lupus Patients and Their Families
Official title: Gene Mapping in Women With SLE
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Systemic Lupus Erythematosus
Keywords: Lupus
SLE
Lead sponsor: Oklahoma Medical Research Foundation
Sponsor class: OTHER
Collaborators: name: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
First posted: 2005-10-10
Enrollment: 2356
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants include SLE patients, their unaffected family members, and healthy controls.

Brief summary: The purpose of this study is to perform genetic testing in and to collect information from families affected by lupus in order to identify the genetic factors associated with systemic lupus erythematosus (SLE).

Detailed description: Little is known about the genetic factors that predispose people to developing SLE. Genes in patients with SLE may provide clues about SLE's pathogenesis. This study will compare genes from SLE patients, their unaffected family members, and control participants. Travel to the study site is not required.

In this study, blood samples will be collected from people diagnosed with SLE, their unaffected family members, and condition-matched controls. Participants will be asked questions about their health and will provide a small blood sample. Participants will also be asked to provide written permission for release of medical information, so that their disease status can be verified through medical record review or through consultation with their doctors. Study personnel may contact participants in the future for follow-up questions and additional blood draws, if the participant agrees.

Eligibility criteria: Inclusion Criteria:

* Diagnosis of SLE OR a family member of participant diagnosed with SLE

Exclusion Criteria:

* Pregnancy or breastfeeding

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Minneapolis
country: United States
facility: University of Minnesota
state: Minnesota
Study officials:
affiliation: University of Minnesota
name: Timothy W. Behrens, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Minnesota
name: Patrick Gaffney
role: PRINCIPAL_INVESTIGATOR
References:
citation: Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, Shark KB, Grande WJ, Hughes KM, Kapur V, Gregersen PK, Behrens TW. Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A. 2003 Mar 4;100(5):2610-5. doi: 10.1073/pnas.0337679100. Epub 2003 Feb 25.
citation: Gillett CD, Langefeld CD, Williams AH, Ortmann WA, Graham RR, Rodine PR, Selby SA, Gaffney PM, Behrens TW, Moser KL. Fine mapping chromosome 16q12 in a collection of 231 systemic lupus erythematosus sibpair and multiplex families. Genes Immun. 2005 Feb;6(1):19-23. doi: 10.1038/sj.gene.6364145.
citation: Graham RR, Ortmann WA, Langefeld CD, Jawaheer D, Selby SA, Rodine PR, Baechler EC, Rohlf KE, Shark KB, Espe KJ, Green LE, Nair RP, Stuart PE, Elder JT, King RA, Moser KL, Gaffney PM, Bugawan TL, Erlich HA, Rich SS, Gregersen PK, Behrens TW. Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet. 2002 Sep;71(3):543-53. doi: 10.1086/342290. Epub 2002 Jul 26.
citation: Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet. 2004 Sep;75(3):504-7. doi: 10.1086/423790. Epub 2004 Jul 23.
citation: Wakeland EK, Liu K, Graham RR, Behrens TW. Delineating the genetic basis of systemic lupus erythematosus. Immunity. 2001 Sep;15(3):397-408. doi: 10.1016/s1074-7613(01)00201-1.