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

Juan Manuel Anaya, Dora Rivera, Luis G. Palacio, Mauricio Arcos-Burgos, Paula A Correa

Resultado de la investigación: Contribución a RevistaArtículo

5 Citas (Scopus)

Resumen

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 Sjogren'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-a 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.
Idioma originalEnglish (US)
Páginas (desde-hasta)2152-2156
Número de páginas5
PublicaciónRheumatology
DOI
EstadoPublished - oct 1 2003

Huella dactilar

Microsatellite Repeats
Sjogren's Syndrome
Linkage Disequilibrium
Odds Ratio
Confidence Intervals
HLA-DQ Antigens
HLA-DRB1 Chains
Chromosomes, Human, Pair 6
Homozygote
Genetic Association Studies
HLA-DR Antigens
HLA Antigens
Major Histocompatibility Complex
Genes
Tumor Necrosis Factor-alpha
Alleles
Genotype
Polymerase Chain Reaction

Citar esto

Anaya, Juan Manuel ; Rivera, Dora ; Palacio, Luis G. ; Arcos-Burgos, Mauricio ; Correa, Paula A. / D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome. En: Rheumatology. 2003 ; pp. 2152-2156.
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title = "D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome",
abstract = "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 Sjogren'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-a 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.",
author = "Anaya, {Juan Manuel} and Dora Rivera and Palacio, {Luis G.} and Mauricio Arcos-Burgos and Correa, {Paula A}",
year = "2003",
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doi = "0315162X-30-2152 [pii]",
language = "English (US)",
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D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome. / Anaya, Juan Manuel; Rivera, Dora; Palacio, Luis G.; Arcos-Burgos, Mauricio; Correa, Paula A.

En: Rheumatology, 01.10.2003, p. 2152-2156.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - D6S439 microsatellite identifies a new susceptibility region for primary Sj??gren's syndrome

AU - Anaya, Juan Manuel

AU - Rivera, Dora

AU - Palacio, Luis G.

AU - Arcos-Burgos, Mauricio

AU - Correa, Paula A

PY - 2003/10/1

Y1 - 2003/10/1

N2 - 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 Sjogren'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-a 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.

AB - 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 Sjogren'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-a 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.

U2 - 0315162X-30-2152 [pii]

DO - 0315162X-30-2152 [pii]

M3 - Article

C2 - 14528509

SP - 2152

EP - 2156

JO - Rheumatology

JF - Rheumatology

SN - 1462-0324

ER -