Gene expression and chromosomal location for susceptibility to Sjögren's syndrome

Paola Pérez, Juan Manuel Anaya, Sergio Aguilera, Ulises Urzúa, David Munroe, Claudio Molina, Marcela A. Hermoso, James Michael Cherry, Cecilia Alliende, Nancy Olea, Edward Ruiz-Narváez, María Julieta González

Resultado de la investigación: Contribución a RevistaArtículo

42 Citas (Scopus)

Resumen

Primary Sjögren's syndrome (SS) is a chronic inflammatory autoimmune disease affecting mainly the exocrine glands. Its physio-pathology is poorly understood and most of the knowledge has been related to the inflammatory component. The aim of this work was to evaluate gene expression profiling in fractions enriched in epithelial cells from labial salivary glands (LSGs) of patients with primary SS and identify chromosomal regions harboring susceptibility genes expressed in epithelial cells. A combined approach of gene expression and genome-wide association study was used. Enriched epithelial cell fractions were obtained from LSGs of patients and controls. Amplified total RNA was labeled and hybridized to 10K cDNA microarrays. Results were normalized and subjected to statistical and functional analysis. A genome-wide microsatellite screen at 10 cM resolution (393 markers) was performed. In salivary gland-epithelial cells from patients 528 genes were expressed differentially in comparison to controls. Pathways not previously linked to disease were found to be altered. Twenty-eight and 15 genes associated with apoptosis were up-regulated and down regulated, respectively. Interferon-related genes, most of which participated in interferon signaling, were also found to be up-regulated. From the genome-wide screen, 6 markers showed evidence of highly significant association with the disease. Of these, five loci harbor genes differentially expressed in patients LSG-epithelial cells. Our results show that in enriched gland-epithelial cells of pSS, both pro-apoptotic/anti-apoptotic and interferon signaling inhibition/stimulation balances may occur. Genes found over-expressed in epithelial cells are candidates for disease susceptibility. © 2009 Elsevier Ltd. All rights reserved.
Idioma originalEnglish (US)
Páginas (desde-hasta)99-108
Número de páginas10
PublicaciónJournal of Autoimmunity
DOI
EstadoPublished - sep 1 2009

Huella dactilar

Sjogren's Syndrome
Epithelial Cells
Gene Expression
Salivary Glands
Lip
Interferons
Genes
Exocrine Glands
Genome
Genome-Wide Association Study
Disease Susceptibility
Gene Expression Profiling
Oligonucleotide Array Sequence Analysis
Microsatellite Repeats
Autoimmune Diseases
RNA
Apoptosis
Pathology

Citar esto

Pérez, Paola ; Anaya, Juan Manuel ; Aguilera, Sergio ; Urzúa, Ulises ; Munroe, David ; Molina, Claudio ; Hermoso, Marcela A. ; Cherry, James Michael ; Alliende, Cecilia ; Olea, Nancy ; Ruiz-Narváez, Edward ; González, María Julieta. / Gene expression and chromosomal location for susceptibility to Sjögren's syndrome. En: Journal of Autoimmunity. 2009 ; pp. 99-108.
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title = "Gene expression and chromosomal location for susceptibility to Sj{\"o}gren's syndrome",
abstract = "Primary Sj{\"o}gren's syndrome (SS) is a chronic inflammatory autoimmune disease affecting mainly the exocrine glands. Its physio-pathology is poorly understood and most of the knowledge has been related to the inflammatory component. The aim of this work was to evaluate gene expression profiling in fractions enriched in epithelial cells from labial salivary glands (LSGs) of patients with primary SS and identify chromosomal regions harboring susceptibility genes expressed in epithelial cells. A combined approach of gene expression and genome-wide association study was used. Enriched epithelial cell fractions were obtained from LSGs of patients and controls. Amplified total RNA was labeled and hybridized to 10K cDNA microarrays. Results were normalized and subjected to statistical and functional analysis. A genome-wide microsatellite screen at 10 cM resolution (393 markers) was performed. In salivary gland-epithelial cells from patients 528 genes were expressed differentially in comparison to controls. Pathways not previously linked to disease were found to be altered. Twenty-eight and 15 genes associated with apoptosis were up-regulated and down regulated, respectively. Interferon-related genes, most of which participated in interferon signaling, were also found to be up-regulated. From the genome-wide screen, 6 markers showed evidence of highly significant association with the disease. Of these, five loci harbor genes differentially expressed in patients LSG-epithelial cells. Our results show that in enriched gland-epithelial cells of pSS, both pro-apoptotic/anti-apoptotic and interferon signaling inhibition/stimulation balances may occur. Genes found over-expressed in epithelial cells are candidates for disease susceptibility. {\circledC} 2009 Elsevier Ltd. All rights reserved.",
author = "Paola P{\'e}rez and Anaya, {Juan Manuel} and Sergio Aguilera and Ulises Urz{\'u}a and David Munroe and Claudio Molina and Hermoso, {Marcela A.} and Cherry, {James Michael} and Cecilia Alliende and Nancy Olea and Edward Ruiz-Narv{\'a}ez and Gonz{\'a}lez, {Mar{\'i}a Julieta}",
year = "2009",
month = "9",
day = "1",
doi = "10.1016/j.jaut.2009.05.001",
language = "English (US)",
pages = "99--108",
journal = "Journal of Autoimmunity",
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Pérez, P, Anaya, JM, Aguilera, S, Urzúa, U, Munroe, D, Molina, C, Hermoso, MA, Cherry, JM, Alliende, C, Olea, N, Ruiz-Narváez, E & González, MJ 2009, 'Gene expression and chromosomal location for susceptibility to Sjögren's syndrome', Journal of Autoimmunity, pp. 99-108. https://doi.org/10.1016/j.jaut.2009.05.001

Gene expression and chromosomal location for susceptibility to Sjögren's syndrome. / Pérez, Paola; Anaya, Juan Manuel; Aguilera, Sergio; Urzúa, Ulises; Munroe, David; Molina, Claudio; Hermoso, Marcela A.; Cherry, James Michael; Alliende, Cecilia; Olea, Nancy; Ruiz-Narváez, Edward; González, María Julieta.

En: Journal of Autoimmunity, 01.09.2009, p. 99-108.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Gene expression and chromosomal location for susceptibility to Sjögren's syndrome

AU - Pérez, Paola

AU - Anaya, Juan Manuel

AU - Aguilera, Sergio

AU - Urzúa, Ulises

AU - Munroe, David

AU - Molina, Claudio

AU - Hermoso, Marcela A.

AU - Cherry, James Michael

AU - Alliende, Cecilia

AU - Olea, Nancy

AU - Ruiz-Narváez, Edward

AU - González, María Julieta

PY - 2009/9/1

Y1 - 2009/9/1

N2 - Primary Sjögren's syndrome (SS) is a chronic inflammatory autoimmune disease affecting mainly the exocrine glands. Its physio-pathology is poorly understood and most of the knowledge has been related to the inflammatory component. The aim of this work was to evaluate gene expression profiling in fractions enriched in epithelial cells from labial salivary glands (LSGs) of patients with primary SS and identify chromosomal regions harboring susceptibility genes expressed in epithelial cells. A combined approach of gene expression and genome-wide association study was used. Enriched epithelial cell fractions were obtained from LSGs of patients and controls. Amplified total RNA was labeled and hybridized to 10K cDNA microarrays. Results were normalized and subjected to statistical and functional analysis. A genome-wide microsatellite screen at 10 cM resolution (393 markers) was performed. In salivary gland-epithelial cells from patients 528 genes were expressed differentially in comparison to controls. Pathways not previously linked to disease were found to be altered. Twenty-eight and 15 genes associated with apoptosis were up-regulated and down regulated, respectively. Interferon-related genes, most of which participated in interferon signaling, were also found to be up-regulated. From the genome-wide screen, 6 markers showed evidence of highly significant association with the disease. Of these, five loci harbor genes differentially expressed in patients LSG-epithelial cells. Our results show that in enriched gland-epithelial cells of pSS, both pro-apoptotic/anti-apoptotic and interferon signaling inhibition/stimulation balances may occur. Genes found over-expressed in epithelial cells are candidates for disease susceptibility. © 2009 Elsevier Ltd. All rights reserved.

AB - Primary Sjögren's syndrome (SS) is a chronic inflammatory autoimmune disease affecting mainly the exocrine glands. Its physio-pathology is poorly understood and most of the knowledge has been related to the inflammatory component. The aim of this work was to evaluate gene expression profiling in fractions enriched in epithelial cells from labial salivary glands (LSGs) of patients with primary SS and identify chromosomal regions harboring susceptibility genes expressed in epithelial cells. A combined approach of gene expression and genome-wide association study was used. Enriched epithelial cell fractions were obtained from LSGs of patients and controls. Amplified total RNA was labeled and hybridized to 10K cDNA microarrays. Results were normalized and subjected to statistical and functional analysis. A genome-wide microsatellite screen at 10 cM resolution (393 markers) was performed. In salivary gland-epithelial cells from patients 528 genes were expressed differentially in comparison to controls. Pathways not previously linked to disease were found to be altered. Twenty-eight and 15 genes associated with apoptosis were up-regulated and down regulated, respectively. Interferon-related genes, most of which participated in interferon signaling, were also found to be up-regulated. From the genome-wide screen, 6 markers showed evidence of highly significant association with the disease. Of these, five loci harbor genes differentially expressed in patients LSG-epithelial cells. Our results show that in enriched gland-epithelial cells of pSS, both pro-apoptotic/anti-apoptotic and interferon signaling inhibition/stimulation balances may occur. Genes found over-expressed in epithelial cells are candidates for disease susceptibility. © 2009 Elsevier Ltd. All rights reserved.

U2 - 10.1016/j.jaut.2009.05.001

DO - 10.1016/j.jaut.2009.05.001

M3 - Article

C2 - 19523788

SP - 99

EP - 108

JO - Journal of Autoimmunity

JF - Journal of Autoimmunity

SN - 0896-8411

ER -