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 re...

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Autores:
Tipo de recurso:
Fecha de publicación:
2011
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/23250
Acceso en línea:
https://doi.org/10.1093/rheumatology/keq302
https://repository.urosario.edu.co/handle/10336/23250
Palabra clave:
Dna
B lymphocyte
Blood
Clinical data repository
Disease registry
Genetic analysis
Genetic association
Human
Information processing
Information technology
Lupus family registry and repository
Medical record
Priority journal
Quality control
Review
Systemic lupus erythematosus
Algorithms
Female
Genetic linkage
Genetic predisposition to disease
Genome-wide association study
Humans
Male
Pedigree
Registries
Sex factors
Autoimmune diseases
Genetics
Genome-wide association studies
Heritability
Linkage analysis
Minorities
Registry
Repository
Systemic lupus erythematosus
Women
systemic
Lupus erythematosus
Rights
License
Abierto (Texto Completo)
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repository_id_str
dc.title.spa.fl_str_mv The lupus family registry and repository
title The lupus family registry and repository
spellingShingle The lupus family registry and repository
Dna
B lymphocyte
Blood
Clinical data repository
Disease registry
Genetic analysis
Genetic association
Human
Information processing
Information technology
Lupus family registry and repository
Medical record
Priority journal
Quality control
Review
Systemic lupus erythematosus
Algorithms
Female
Genetic linkage
Genetic predisposition to disease
Genome-wide association study
Humans
Male
Pedigree
Registries
Sex factors
Autoimmune diseases
Genetics
Genome-wide association studies
Heritability
Linkage analysis
Minorities
Registry
Repository
Systemic lupus erythematosus
Women
systemic
Lupus erythematosus
title_short The lupus family registry and repository
title_full The lupus family registry and repository
title_fullStr The lupus family registry and repository
title_full_unstemmed The lupus family registry and repository
title_sort The lupus family registry and repository
dc.subject.keyword.spa.fl_str_mv Dna
B lymphocyte
Blood
Clinical data repository
Disease registry
Genetic analysis
Genetic association
Human
Information processing
Information technology
Lupus family registry and repository
Medical record
Priority journal
Quality control
Review
Systemic lupus erythematosus
Algorithms
Female
Genetic linkage
Genetic predisposition to disease
Genome-wide association study
Humans
Male
Pedigree
Registries
Sex factors
Autoimmune diseases
Genetics
Genome-wide association studies
Heritability
Linkage analysis
Minorities
Registry
Repository
Systemic lupus erythematosus
Women
topic Dna
B lymphocyte
Blood
Clinical data repository
Disease registry
Genetic analysis
Genetic association
Human
Information processing
Information technology
Lupus family registry and repository
Medical record
Priority journal
Quality control
Review
Systemic lupus erythematosus
Algorithms
Female
Genetic linkage
Genetic predisposition to disease
Genome-wide association study
Humans
Male
Pedigree
Registries
Sex factors
Autoimmune diseases
Genetics
Genome-wide association studies
Heritability
Linkage analysis
Minorities
Registry
Repository
Systemic lupus erythematosus
Women
systemic
Lupus erythematosus
dc.subject.keyword.eng.fl_str_mv systemic
Lupus erythematosus
description 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. © The Author 2010. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.
publishDate 2011
dc.date.created.spa.fl_str_mv 2011
dc.date.accessioned.none.fl_str_mv 2020-05-26T00:00:38Z
dc.date.available.none.fl_str_mv 2020-05-26T00:00:38Z
dc.type.eng.fl_str_mv article
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dc.type.spa.spa.fl_str_mv Artículo
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1093/rheumatology/keq302
dc.identifier.issn.none.fl_str_mv 14620324
14620332
dc.identifier.uri.none.fl_str_mv https://repository.urosario.edu.co/handle/10336/23250
url https://doi.org/10.1093/rheumatology/keq302
https://repository.urosario.edu.co/handle/10336/23250
identifier_str_mv 14620324
14620332
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.citationEndPage.none.fl_str_mv 59
dc.relation.citationIssue.none.fl_str_mv No. 1
dc.relation.citationStartPage.none.fl_str_mv 47
dc.relation.citationTitle.none.fl_str_mv Rheumatology
dc.relation.citationVolume.none.fl_str_mv Vol. 50
dc.relation.ispartof.spa.fl_str_mv Rheumatology, ISSN:14620324, 14620332, Vol.50, No.1 (2011); pp. 47-59
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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. © The Author 2010. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.application/pdfhttps://doi.org/10.1093/rheumatology/keq3021462032414620332https://repository.urosario.edu.co/handle/10336/23250eng59No. 147RheumatologyVol. 50Rheumatology, ISSN:14620324, 14620332, Vol.50, No.1 (2011); pp. 47-59https://www.scopus.com/inward/record.uri?eid=2-s2.0-79951706007&doi=10.1093%2frheumatology%2fkeq302&partnerID=40&md5=ce09c053773182cce82fc9db295fa68aAbierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURDnaB lymphocyteBloodClinical data repositoryDisease registryGenetic analysisGenetic associationHumanInformation processingInformation technologyLupus family registry and repositoryMedical recordPriority journalQuality controlReviewSystemic lupus erythematosusAlgorithmsFemaleGenetic linkageGenetic predisposition to diseaseGenome-wide association studyHumansMalePedigreeRegistriesSex factorsAutoimmune diseasesGeneticsGenome-wide association studiesHeritabilityLinkage analysisMinoritiesRegistryRepositorySystemic lupus erythematosusWomensystemicLupus erythematosusThe lupus family registry and repositoryarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Rasmussen A.Sevier S.Kelly J.A.Glenn S.B.Aberle T.Cooney C.M.Grether A.James E.Ning J.Tesiram J.Morrisey J.Powe T.Drexel M.Daniel W.Namjou B.Ojwang J.O.Nguyen K.L.Cavett J.W.Te J.L.James J.A.Hal Scofield R.Moser K.Gilkeson G.S.Kamen D.L.Carson C.W.Quintero-del-Rio A.I.del Carmen Ballesteros M.Punaro M.G.Karp D.R.Wallace D.J.Weisman M.Merrill J.T.Rivera R.Petri M.A.Albert D.A.Espinoza L.R.Utset T.O.Shaver T.S.Arthur E.Anaya, Juan-ManuelBruner G.R.Harley J.B.ORIGINALkeq302.pdfapplication/pdf454497https://repository.urosario.edu.co/bitstreams/a69a85f9-c36c-4b77-b586-025febd51507/download7b447fc4746e85d8ca1e95c0c4c62efeMD51TEXTkeq302.pdf.txtkeq302.pdf.txtExtracted texttext/plain57335https://repository.urosario.edu.co/bitstreams/b7255b24-393d-492c-9e50-acb78654a485/download0c0be68e605c8d8ff4e08494d34528c7MD52THUMBNAILkeq302.pdf.jpgkeq302.pdf.jpgGenerated Thumbnailimage/jpeg5049https://repository.urosario.edu.co/bitstreams/097baf48-9914-4fa1-83a8-2c6da8a36e38/download9be3fc78f095222105c60cb90784d361MD5310336/23250oai:repository.urosario.edu.co:10336/232502022-05-02 07:37:13.269921https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co