@article{b9587897a62e4f6592731c1d3fd08513,
title = "The lupus family registry and repository",
abstract = "The Lupus Family Registry and Repository (LFRR) was established with the goal of assembling and distributing materials and data from families with one or more living members diagnosed with SLE, in order to address SLE genetics. In the present article, we describe the problems and solutions of the registry design and biometric data gathering; the protocols implemented to guarantee data quality and protection of participant privacy and consent; and the establishment of a local and international network of collaborators. At the same time, we illustrate how the LFRR has enabled progress in lupus genetics research, answering old scientific questions while laying out new challenges in the elucidation of the biologic mechanisms that underlie disease pathogenesis. Trained staff ascertain SLE cases, unaffected family members and population-based controls, proceeding in compliance with the relevant laws and standards; participant consent and privacy are central to the LFRR's effort. Data, DNA, serum, plasma, peripheral blood and transformed B-cell lines are collected and stored, and subject to strict quality control and safety measures. Coded data and materials derived from the registry are available for approved scientific users. The LFRR has contributed to the discovery of most of the 37 genetic associations now known to contribute to lupus through 104 publications. The LFRR contains 2618 lupus cases from 1954 pedigrees that are being studied by 76 approved users and their collaborators. The registry includes difficult to obtain populations, such as multiplex pedigrees, minority patients and affected males, and constitutes the largest collection of lupus pedigrees in the world. The LFRR is a useful resource for the discovery and characterization of genetic associations in SLE.",
keywords = "Autoimmune diseases, Genetics, Genome-wide association studies, Heritability, Linkage analysis, Minorities, Registry, Repository, Systemic lupus erythematosus, Women",
author = "Astrid Rasmussen and Sydney Sevier and Kelly, {Jennifer A.} and Glenn, {Stuart B.} and Teresa Aberle and Cooney, {Carisa M.} and Anya Grether and Ellen James and Jared Ning and Joanne Tesiram and Jean Morrisey and Tiny Powe and Mark Drexel and Wes Daniel and Bahram Namjou and Ojwang, {Joshua O.} and Nguyen, {Kim L.} and Cavett, {Joshua W.} and Te, {Jeannie L.} and James, {Judith A.} and {Hal Scofield}, R. and Kathy Moser and Gilkeson, {Gary S.} and Kamen, {Diane L.} and Carson, {Craig W.} and Quintero-del-Rio, {Ana I.} and {del Carmen Ballesteros}, Maria and Punaro, {Marilynn G.} and Karp, {David R.} and Wallace, {Daniel J.} and Michael Weisman and Merrill, {Joan T.} and Roberto Rivera and Petri, {Michelle A.} and Albert, {Daniel A.} and Espinoza, {Luis R.} and Utset, {Tammy O.} and Shaver, {Timothy S.} and Eugene Arthur and Anaya, {Juan Manuel} and Bruner, {Gail R.} and Harley, {John B.}",
note = "Funding Information: Funding: This work was supported by the National Institutes of Health, mainly from the National Institute of Arthritis, Musculoskeletal and Skin Diseases (N01AR62277) with important contributions from additional grants from the National Institutes of Health (R37AI24717, R01AR42460, P20RR020743, R01AR053734, P01AR049084, P20AR04 6669, RC1AR058554 and R01AR043274). G.S.G. and D.L.K. were supported by the South Carolina Clinical & Translational Research Institute, Medical University of South Carolina{\textquoteright}s Clinical and Translational Science Award (CTSA) and National Institutes of Health/National Center for Research Resources (UL1RR029882). L.R.E. was funded by the Board of Regents of the State of Louisiana. Funding Information: In the early 1990s, Dr John Harley, at the Oklahoma Medical Research Foundation (OMRF), began assembling multiplex families for SLE, and caught the attention of the National Institute of Arthritis, Musculoskeletal and Skin Diseases (NIAMS) at the American College of Rheumatology (ACR) annual meeting in the fall of 1993. This was the conceptual birthplace of what became the Lupus Multiplex Registry and Repository and led to contractual funding from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) in the fall of 1995.",
year = "2011",
month = jan,
doi = "10.1093/rheumatology/keq302",
language = "English (US)",
volume = "50",
pages = "47--59",
journal = "Rheumatology and Rehabilitation",
issn = "1462-0324",
publisher = "Oxford University Press",
number = "1",
}