The lupus family registry and repository.
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.
Rasmussen
Astrid
A
Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Sevier
Sydney
S
Kelly
Jennifer A
JA
Glenn
Stuart B
SB
Aberle
Teresa
T
Cooney
Carisa M
CM
Grether
Anya
A
James
Ellen
E
Ning
Jared
J
Tesiram
Joanne
J
Morrisey
Jean
J
Powe
Tiny
T
Drexel
Mark
M
Daniel
Wes
W
Namjou
Bahram
B
Ojwang
Joshua O
JO
Nguyen
Kim L
KL
Cavett
Joshua W
JW
Te
Jeannie L
JL
James
Judith A
JA
Scofield
R Hal
RH
Moser
Kathy
K
Gilkeson
Gary S
GS
Kamen
Diane L
DL
Carson
Craig W
CW
Quintero-del-Rio
Ana I
AI
del Carmen Ballesteros
Maria
M
Punaro
Marilynn G
MG
Karp
David R
DR
Wallace
Daniel J
DJ
Weisman
Michael
M
Merrill
Joan T
JT
Rivera
Roberto
R
Petri
Michelle A
MA
Albert
Daniel A
DA
Espinoza
Luis R
LR
Utset
Tammy O
TO
Shaver
Timothy S
TS
Arthur
Eugene
E
Anaya
Juan-Manuel
JM
Bruner
Gail R
GR
Harley
John B
JB
D000465:Algorithms; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D010375:Pedigree; D012042:Registries; D012737:Sex Factors