The """"""""Research Resource for Genetics of Families with Multiple Autoimmune Diseases"""""""" (hereafter referred to as the Resource) will be a repository of genetic and clinical data and materials collected from families with multiple autoimmune diseases. The goal of the Resource is to collect and characterize multiplex (two or more individuals affected individuals) families affected by two or more distinct autoimmune diseases. This facility will provide research materials to the scientific community. Upon approval of research applications, researchers will be supplied with subject DNA, clinical, demographic and laboratory data. Subject's materials will be given anonymous identifiers to ensure the privacy of Resource participants. This proposal consists of nine specific objectives: 1) to identify and compile a list of suitable families with multiple autoimmune diseases; 2) to establish criteria for study entry and recruitment procedures; 3) to establish a comprehensive database for the storage and analysis of clinical and genetic data; 4) to collect a minimum of 400 multiplex families that have two or more individuals affected with two or more of five major autoimmune diseases; 5) to establish a centralized biorepository for the storage of DNA, plasma, and frozen PBL/cell lines on all appropriate family members whether affected or unaffected; 6) to perform limited genotyping analysis on all subjects to confirm the nature of the genetic relationships within these families; 7) to perform limited HLA typing on all appropriate family members whether affected or unaffected; 8) to establish a mechanism for the distribution of clinical data and biological materials to investigators who wish to utilize this resource for research purposes; and 9) to provide for annual follow up of all individuals in the study, for the purpose of identifying the new appearance of autoimmune disorders in these families.

Project Start
1999-09-30
Project End
2004-09-29
Budget Start
1999-09-30
Budget End
2000-09-29
Support Year
Fiscal Year
1999
Total Cost
Indirect Cost
Name
North Shore University Hospital
Department
Type
DUNS #
City
Manhasset
State
NY
Country
United States
Zip Code
11030
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Musone, S L; Taylor, K E; Nititham, J et al. (2011) Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases. Genes Immun 12:176-82
Taylor, Kimberly E; Remmers, Elaine F; Lee, Annette T et al. (2008) Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus. PLoS Genet 4:e1000084
Hom, Geoffrey; Graham, Robert R; Modrek, Barmak et al. (2008) Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 358:900-9
Musone, Stacy L; Taylor, Kimberly E; Lu, Timothy T et al. (2008) Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet 40:1062-4
Remmers, Elaine F; Plenge, Robert M; Lee, Annette T et al. (2007) STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 357:977-86
Criswell, Lindsey A; Pfeiffer, Kirsten A; Lum, Raymond F et al. (2005) Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 76:561-71
Criswell, Lindsey A (2004) Familial clustering of disease features: implications for the etiology and investigation of systemic autoimmune disease. Arthritis Rheum 50:1707-8