The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype

B Rueda; J Broen; O Torres; C Simeon; N Ortego-Centeno; M M V A P Schrijvenaars; M C Vonk; V Fonollosa; F H J van den Hoogen; M J H Coenen; J Sanchez-Román; M A Aguirre-Zamorano; R García-Portales; A Pros; M T Camps; M A Gonzalez-Gay; J Martin; T R D J Radstake

doi:10.1136/ard.2008.096719

The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype

B Rueda, J Broen, O Torres, C Simeon, N Ortego-Centeno, M M V A P Schrijvenaars, M C Vonk, V Fonollosa, F H J van den Hoogen, M J H Coenen, J Sanchez-Román, M A Aguirre-Zamorano, R García-Portales, A Pros, M T Camps, M A Gonzalez-Gay, J Martin, T R D J Radstake

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

OBJECTIVES: Multiple studies indicate the role of the interleukin (IL)-17/IL-23 axis in autoimmune diseases, including systemic sclerosis (SSc). The aim of the current study was to investigate the possible implication of the IL23R gene in SSc susceptibility and/or clinical phenotype.

METHODS: An initial case-control study in 143 Dutch patients with SSc and geographically matched healthy individuals (n = 246) was carried out and followed by a replication study in a cohort of 365 Spanish patients with SSc and 515 healthy individuals. Seven single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected and genotyped using a Taqman assay.

RESULTS: Using a Dutch cohort of patients with SSc and controls we observed an association between two (rs11209032, rs1495965) of the seven tested SNPs and disease susceptibility (allelic p values: p = 0.02 and p = 0.01 respectively). However, a replication study in an independent Spanish cohort did not confirm these findings and reveal no association of any of the IL23R-tested SNP with disease susceptibility or clinical phenotype. Similarly, a meta-analysis considering both populations did not reveal any significant association. In addition, no association was observed between IL23R genetic variants and SSc clinical phenotypes.

CONCLUSIONS: Our results suggest that the IL23R gene is not associated with SSc susceptibility or clinical phenotype.

Original language	English
Pages (from-to)	253-6
Number of pages	4
Journal	Annals of the Rheumatic Diseases
Volume	68
Issue number	2
DOIs	https://doi.org/10.1136/ard.2008.096719
Publication status	Published - Feb 2009
Externally published	Yes

Keywords

Adult
Aged
Case-Control Studies
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Male
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
Receptors, Interleukin
Scleroderma, Systemic
Journal Article
Meta-Analysis
Multicenter Study
Research Support, Non-U.S. Gov't

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10.1136/ard.2008.096719

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Rueda, B., Broen, J., Torres, O., Simeon, C., Ortego-Centeno, N., Schrijvenaars, M. M. V. A. P., Vonk, M. C., Fonollosa, V., van den Hoogen, F. H. J., Coenen, M. J. H., Sanchez-Román, J., Aguirre-Zamorano, M. A., García-Portales, R., Pros, A., Camps, M. T., Gonzalez-Gay, M. A., Martin, J., & Radstake, T. R. D. J. (2009). The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype. Annals of the Rheumatic Diseases, 68(2), 253-6. https://doi.org/10.1136/ard.2008.096719

@article{7668c59296324648a6a53e6a475acfe4,

title = "The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype",

abstract = "OBJECTIVES: Multiple studies indicate the role of the interleukin (IL)-17/IL-23 axis in autoimmune diseases, including systemic sclerosis (SSc). The aim of the current study was to investigate the possible implication of the IL23R gene in SSc susceptibility and/or clinical phenotype.METHODS: An initial case-control study in 143 Dutch patients with SSc and geographically matched healthy individuals (n = 246) was carried out and followed by a replication study in a cohort of 365 Spanish patients with SSc and 515 healthy individuals. Seven single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected and genotyped using a Taqman assay.RESULTS: Using a Dutch cohort of patients with SSc and controls we observed an association between two (rs11209032, rs1495965) of the seven tested SNPs and disease susceptibility (allelic p values: p = 0.02 and p = 0.01 respectively). However, a replication study in an independent Spanish cohort did not confirm these findings and reveal no association of any of the IL23R-tested SNP with disease susceptibility or clinical phenotype. Similarly, a meta-analysis considering both populations did not reveal any significant association. In addition, no association was observed between IL23R genetic variants and SSc clinical phenotypes.CONCLUSIONS: Our results suggest that the IL23R gene is not associated with SSc susceptibility or clinical phenotype.",

keywords = "Adult, Aged, Case-Control Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Receptors, Interleukin, Scleroderma, Systemic, Journal Article, Meta-Analysis, Multicenter Study, Research Support, Non-U.S. Gov't",

author = "B Rueda and J Broen and O Torres and C Simeon and N Ortego-Centeno and Schrijvenaars, \{M M V A P\} and Vonk, \{M C\} and V Fonollosa and \{van den Hoogen\}, \{F H J\} and Coenen, \{M J H\} and J Sanchez-Rom{\'a}n and Aguirre-Zamorano, \{M A\} and R Garc{\'i}a-Portales and A Pros and Camps, \{M T\} and Gonzalez-Gay, \{M A\} and J Martin and Radstake, \{T R D J\}",

year = "2009",

month = feb,

doi = "10.1136/ard.2008.096719",

language = "English",

volume = "68",

pages = "253--6",

journal = "Annals of the Rheumatic Diseases",

issn = "0003-4967",

publisher = "Elsevier",

number = "2",

}

Rueda, B, Broen, J, Torres, O, Simeon, C, Ortego-Centeno, N, Schrijvenaars, MMVAP, Vonk, MC, Fonollosa, V, van den Hoogen, FHJ, Coenen, MJH, Sanchez-Román, J, Aguirre-Zamorano, MA, García-Portales, R, Pros, A, Camps, MT, Gonzalez-Gay, MA, Martin, J & Radstake, TRDJ 2009, 'The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype', Annals of the Rheumatic Diseases, vol. 68, no. 2, pp. 253-6. https://doi.org/10.1136/ard.2008.096719

TY - JOUR

T1 - The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype

AU - Rueda, B

AU - Broen, J

AU - Torres, O

AU - Simeon, C

AU - Ortego-Centeno, N

AU - Schrijvenaars, M M V A P

AU - Vonk, M C

AU - Fonollosa, V

AU - van den Hoogen, F H J

AU - Coenen, M J H

AU - Sanchez-Román, J

AU - Aguirre-Zamorano, M A

AU - García-Portales, R

AU - Pros, A

AU - Camps, M T

AU - Gonzalez-Gay, M A

AU - Martin, J

AU - Radstake, T R D J

PY - 2009/2

Y1 - 2009/2

N2 - OBJECTIVES: Multiple studies indicate the role of the interleukin (IL)-17/IL-23 axis in autoimmune diseases, including systemic sclerosis (SSc). The aim of the current study was to investigate the possible implication of the IL23R gene in SSc susceptibility and/or clinical phenotype.METHODS: An initial case-control study in 143 Dutch patients with SSc and geographically matched healthy individuals (n = 246) was carried out and followed by a replication study in a cohort of 365 Spanish patients with SSc and 515 healthy individuals. Seven single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected and genotyped using a Taqman assay.RESULTS: Using a Dutch cohort of patients with SSc and controls we observed an association between two (rs11209032, rs1495965) of the seven tested SNPs and disease susceptibility (allelic p values: p = 0.02 and p = 0.01 respectively). However, a replication study in an independent Spanish cohort did not confirm these findings and reveal no association of any of the IL23R-tested SNP with disease susceptibility or clinical phenotype. Similarly, a meta-analysis considering both populations did not reveal any significant association. In addition, no association was observed between IL23R genetic variants and SSc clinical phenotypes.CONCLUSIONS: Our results suggest that the IL23R gene is not associated with SSc susceptibility or clinical phenotype.

AB - OBJECTIVES: Multiple studies indicate the role of the interleukin (IL)-17/IL-23 axis in autoimmune diseases, including systemic sclerosis (SSc). The aim of the current study was to investigate the possible implication of the IL23R gene in SSc susceptibility and/or clinical phenotype.METHODS: An initial case-control study in 143 Dutch patients with SSc and geographically matched healthy individuals (n = 246) was carried out and followed by a replication study in a cohort of 365 Spanish patients with SSc and 515 healthy individuals. Seven single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected and genotyped using a Taqman assay.RESULTS: Using a Dutch cohort of patients with SSc and controls we observed an association between two (rs11209032, rs1495965) of the seven tested SNPs and disease susceptibility (allelic p values: p = 0.02 and p = 0.01 respectively). However, a replication study in an independent Spanish cohort did not confirm these findings and reveal no association of any of the IL23R-tested SNP with disease susceptibility or clinical phenotype. Similarly, a meta-analysis considering both populations did not reveal any significant association. In addition, no association was observed between IL23R genetic variants and SSc clinical phenotypes.CONCLUSIONS: Our results suggest that the IL23R gene is not associated with SSc susceptibility or clinical phenotype.

KW - Adult

KW - Aged

KW - Case-Control Studies

KW - Female

KW - Gene Frequency

KW - Genetic Predisposition to Disease

KW - Genotype

KW - Humans

KW - Male

KW - Middle Aged

KW - Phenotype

KW - Polymorphism, Single Nucleotide

KW - Receptors, Interleukin

KW - Scleroderma, Systemic

KW - Journal Article

KW - Meta-Analysis

KW - Multicenter Study

KW - Research Support, Non-U.S. Gov't

U2 - 10.1136/ard.2008.096719

DO - 10.1136/ard.2008.096719

M3 - Article

C2 - 18713787

SN - 0003-4967

VL - 68

SP - 253

EP - 256

JO - Annals of the Rheumatic Diseases

JF - Annals of the Rheumatic Diseases

IS - 2

ER -

The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype

Abstract

Keywords

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