D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome

Objective. To examine genetic variations in the region surrounding loci of the major histocompatibility complex, and to investigate the probable location of a new candidate region on the short arm of chromosome 6 predisposing to primary Sjögren’s syndrome (SS). Methods. We conducted an association s...

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Autores:
Tipo de recurso:
Fecha de publicación:
2003
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/26020
Acceso en línea:
https://repository.urosario.edu.co/handle/10336/26020
Palabra clave:
Sjögren’s syndrome
Bak
Major histocompatibility complex
Homozygosity
D6s439
Microsatellites
Rights
License
Restringido (Acceso a grupos específicos)
id EDOCUR2_b37f3a7c56b984201b18456d06fa7d3e
oai_identifier_str oai:repository.urosario.edu.co:10336/26020
network_acronym_str EDOCUR2
network_name_str Repositorio EdocUR - U. Rosario
repository_id_str
spelling 19474778600b2b5ed0d-6773-46bb-acd3-c50d9dc9460de8f9bd16-6e86-409e-98e0-bfe14df1bcf010548610db6634cb-78db-456d-82d5-fa71405100372020-08-06T16:20:28Z2020-08-06T16:20:28Z2003-10Objective. To examine genetic variations in the region surrounding loci of the major histocompatibility complex, and to investigate the probable location of a new candidate region on the short arm of chromosome 6 predisposing to primary Sjögren’s syndrome (SS). Methods. We conducted an association study and positional candidate gene approach by microsatellite analysis. Five polymorphic microsatellite markers, D6S273, D6S439, D6S1645, D6S291, and DS61019, spanning the region 6p21.3, and establishing particular landmarks to discriminate between the human leukocyte antigen class II and tumor necrosis factor-? loci, were genotyped by polymerase chain reaction technique. Results. A total of 64 patients with primary SS and 120 matched controls were examined. There was no genetic stratification among cases and controls. Genotype distribution analysis disclosed a significantly higher number of homozygotes for D6S439 locus in patients than in controls [odds ratio (OR): 3, 95% confidence interval (CI): 1.46-6.14, p = 0.004]. Confirmation of this homozygosity was established by the gene correlation intra-locus test (Fis value = +0.233, p = 0.0007). Allele D6S439*274 was associated to disease (OR: 3, 95% CI: 1.35-6.65, p = 0.006, pc = 0.04). Among patients, no significant linkage disequilibrium (LD) value was found between the studied microsatellites and TAP, HLA-DRB1, or HLA-DQB1 loci. In controls, there was LD between D6S1645 and D6S291 loci. Conclusion. Our results indicate that D6S439 microsatellite defines a new susceptibility region for primary SS, independent of LD with TAP and HLA DQ/DR. These findings might imply that a gene surrounding this location is causally related to the disease. (J Rheumatol 2003;30:2152–6)application/pdfISSN: 0315-162XEISSN: 1499-2752https://repository.urosario.edu.co/handle/10336/26020engThe Journal of Rheumatology Publishing2156No. 102152The Journal of RheumatologyVol. 30The Journal of Rheumatology, ISSN: 0315-162X;EISSN: 1499-2752, Vol.30 No.10 (2003) pp.2152-2156https://www.jrheum.org/content/jrheum/30/10/2152.full.pdfRestringido (Acceso a grupos específicos)http://purl.org/coar/access_right/c_16ecThe Journal of Rheumatologyinstname:Universidad del Rosarioreponame:Repositorio Institucional EdocURSjögren’s syndromeBakMajor histocompatibility complexHomozygosityD6s439MicrosatellitesD6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndromeEl microsatélite D6S439 identifica una nueva región de susceptibilidad para el síndrome de Sj ?? gren primarioarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Anaya, Juan-ManuelRivera, DoraPalacio, Luis G.Arcos-Burgos, MauricioCorrea, Paula A.10336/26020oai:repository.urosario.edu.co:10336/260202022-05-02 07:37:13.56056https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co
dc.title.spa.fl_str_mv D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome
dc.title.TranslatedTitle.spa.fl_str_mv El microsatélite D6S439 identifica una nueva región de susceptibilidad para el síndrome de Sj ?? gren primario
title D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome
spellingShingle D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome
Sjögren’s syndrome
Bak
Major histocompatibility complex
Homozygosity
D6s439
Microsatellites
title_short D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome
title_full D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome
title_fullStr D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome
title_full_unstemmed D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome
title_sort D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome
dc.subject.keyword.spa.fl_str_mv Sjögren’s syndrome
Bak
Major histocompatibility complex
Homozygosity
D6s439
Microsatellites
topic Sjögren’s syndrome
Bak
Major histocompatibility complex
Homozygosity
D6s439
Microsatellites
description Objective. To examine genetic variations in the region surrounding loci of the major histocompatibility complex, and to investigate the probable location of a new candidate region on the short arm of chromosome 6 predisposing to primary Sjögren’s syndrome (SS). Methods. We conducted an association study and positional candidate gene approach by microsatellite analysis. Five polymorphic microsatellite markers, D6S273, D6S439, D6S1645, D6S291, and DS61019, spanning the region 6p21.3, and establishing particular landmarks to discriminate between the human leukocyte antigen class II and tumor necrosis factor-? loci, were genotyped by polymerase chain reaction technique. Results. A total of 64 patients with primary SS and 120 matched controls were examined. There was no genetic stratification among cases and controls. Genotype distribution analysis disclosed a significantly higher number of homozygotes for D6S439 locus in patients than in controls [odds ratio (OR): 3, 95% confidence interval (CI): 1.46-6.14, p = 0.004]. Confirmation of this homozygosity was established by the gene correlation intra-locus test (Fis value = +0.233, p = 0.0007). Allele D6S439*274 was associated to disease (OR: 3, 95% CI: 1.35-6.65, p = 0.006, pc = 0.04). Among patients, no significant linkage disequilibrium (LD) value was found between the studied microsatellites and TAP, HLA-DRB1, or HLA-DQB1 loci. In controls, there was LD between D6S1645 and D6S291 loci. Conclusion. Our results indicate that D6S439 microsatellite defines a new susceptibility region for primary SS, independent of LD with TAP and HLA DQ/DR. These findings might imply that a gene surrounding this location is causally related to the disease. (J Rheumatol 2003;30:2152–6)
publishDate 2003
dc.date.created.spa.fl_str_mv 2003-10
dc.date.accessioned.none.fl_str_mv 2020-08-06T16:20:28Z
dc.date.available.none.fl_str_mv 2020-08-06T16:20:28Z
dc.type.eng.fl_str_mv article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_6501
dc.type.spa.spa.fl_str_mv Artículo
dc.identifier.issn.none.fl_str_mv ISSN: 0315-162X
EISSN: 1499-2752
dc.identifier.uri.none.fl_str_mv https://repository.urosario.edu.co/handle/10336/26020
identifier_str_mv ISSN: 0315-162X
EISSN: 1499-2752
url https://repository.urosario.edu.co/handle/10336/26020
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.citationEndPage.none.fl_str_mv 2156
dc.relation.citationIssue.none.fl_str_mv No. 10
dc.relation.citationStartPage.none.fl_str_mv 2152
dc.relation.citationTitle.none.fl_str_mv The Journal of Rheumatology
dc.relation.citationVolume.none.fl_str_mv Vol. 30
dc.relation.ispartof.spa.fl_str_mv The Journal of Rheumatology, ISSN: 0315-162X;EISSN: 1499-2752, Vol.30 No.10 (2003) pp.2152-2156
dc.relation.uri.spa.fl_str_mv https://www.jrheum.org/content/jrheum/30/10/2152.full.pdf
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_16ec
dc.rights.acceso.spa.fl_str_mv Restringido (Acceso a grupos específicos)
rights_invalid_str_mv Restringido (Acceso a grupos específicos)
http://purl.org/coar/access_right/c_16ec
dc.format.mimetype.none.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv The Journal of Rheumatology Publishing
dc.source.spa.fl_str_mv The Journal of Rheumatology
institution Universidad del Rosario
dc.source.instname.none.fl_str_mv instname:Universidad del Rosario
dc.source.reponame.none.fl_str_mv reponame:Repositorio Institucional EdocUR
repository.name.fl_str_mv Repositorio institucional EdocUR
repository.mail.fl_str_mv edocur@urosario.edu.co
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