Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression

Jasper C.A. Broen; Phillipe Dieude; Madelon C. Vonk; Lorenzo Beretta; Francisco D. Carmona; Ariane Herrick; Jane Worthington; Nicholas Hunzelmann; Gabriela Riemekasten; Hans Kiener; Rafaella Scorza; Carmen P. Simeon; Vicent Fonollosa; Patricia Carreira; Norberto Ortego-Centeno; Miguel A. Gonzalez-Gay; Paolo Airo'; Marieke J. Coenen; Kelly Tsang; Antonios O. Aliprantis; Javier Martin; Yannick Allanore; Timothy R.D.J. Radstake

doi:10.3899/jrheum.110235

Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression

Jasper C.A. Broen, Phillipe Dieude, Madelon C. Vonk, Lorenzo Beretta, Francisco D. Carmona, Ariane Herrick, Jane Worthington, Nicholas Hunzelmann, Gabriela Riemekasten, Hans Kiener, Rafaella Scorza, Carmen P. Simeon, Vicent Fonollosa, Patricia Carreira, Norberto Ortego-Centeno, Miguel A. Gonzalez-Gay, Paolo Airo', Marieke J. Coenen, Kelly Tsang, Antonios O. AliprantisJavier Martin, Yannick Allanore, Timothy R.D.J. Radstake^*

^*Corresponding author for this work

Clinic of Rheumatology

9 Citations (Scopus)

Abstract

Objective. Polymorphisms in the genes encoding interleukin 4 (IL4), interleukin 13 (IL13), and their corresponding receptors have been associated with multiple immune-mediated diseases. Our aim was to validate these previous observations in patients with systemic sclerosis (SSc) and scrutinize the effect of the polymorphisms on gene expression in various populations of peripheral blood leukocytes. Methods. We genotyped a cohort of 2488 patients with SSc and 2246 healthy controls from The Netherlands, Spain, United Kingdom, Italy, Germany, and France. Taqman assays were used to genotype single-nucleotide polymorphisms (SNP) in the following genes: (1) IL4 (-590C>T/rs2243250); (2) IL4 receptor alpha (IL4RA) (Q576R/rs1801275); (3) IL13 (R130Q/rs20541 and -1112C>T/rs1800925); and (4) IL13RA1 (43163G>A/rs6646259). The effect of these polymorphisms on expression of the corresponding genes was assessed using quantitative RT-PCR on RNA derived from peripheral blood B cells, T cells, plasmacytoid dendritic cells, monocytes, and myeloid dendritic cells. We investigated whether these polymorphisms influenced development of pulmonary complications over 15 years in patients with SSc. Results. None of the investigated polymorphisms was associated with SSc or any SSc clinical subtype. We did not observe any effect on transcript levels in the cell subtypes or on development of pulmonary complications. Conclusion. Our data showed that polymorphisms in IL4, IL13, and their receptors do not play a role in SSc and do not influence the expression of their corresponding transcript in peripheral blood cells. The Journal of Rheumatology

Original language	English
Journal	Journal of Rheumatology
Volume	39
Issue number	1
Pages (from-to)	112-118
Number of pages	7
ISSN	0315-162X
DOIs	https://doi.org/10.3899/jrheum.110235
Publication status	Published - 01.2012

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Academic Focus: Center for Infection and Inflammation Research (ZIEL)

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10.3899/jrheum.110235

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Broen, J. C. A., Dieude, P., Vonk, M. C., Beretta, L., Carmona, F. D., Herrick, A., Worthington, J., Hunzelmann, N., Riemekasten, G., Kiener, H., Scorza, R., Simeon, C. P., Fonollosa, V., Carreira, P., Ortego-Centeno, N., Gonzalez-Gay, M. A., Airo', P., Coenen, M. J., Tsang, K., ... Radstake, T. R. D. J. (2012). Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression. Journal of Rheumatology, 39(1), 112-118. https://doi.org/10.3899/jrheum.110235

@article{f2ea811f1c5244cf84d262c23caa080a,

title = "Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression",

abstract = "Objective. Polymorphisms in the genes encoding interleukin 4 (IL4), interleukin 13 (IL13), and their corresponding receptors have been associated with multiple immune-mediated diseases. Our aim was to validate these previous observations in patients with systemic sclerosis (SSc) and scrutinize the effect of the polymorphisms on gene expression in various populations of peripheral blood leukocytes. Methods. We genotyped a cohort of 2488 patients with SSc and 2246 healthy controls from The Netherlands, Spain, United Kingdom, Italy, Germany, and France. Taqman assays were used to genotype single-nucleotide polymorphisms (SNP) in the following genes: (1) IL4 (-590C>T/rs2243250); (2) IL4 receptor alpha (IL4RA) (Q576R/rs1801275); (3) IL13 (R130Q/rs20541 and -1112C>T/rs1800925); and (4) IL13RA1 (43163G>A/rs6646259). The effect of these polymorphisms on expression of the corresponding genes was assessed using quantitative RT-PCR on RNA derived from peripheral blood B cells, T cells, plasmacytoid dendritic cells, monocytes, and myeloid dendritic cells. We investigated whether these polymorphisms influenced development of pulmonary complications over 15 years in patients with SSc. Results. None of the investigated polymorphisms was associated with SSc or any SSc clinical subtype. We did not observe any effect on transcript levels in the cell subtypes or on development of pulmonary complications. Conclusion. Our data showed that polymorphisms in IL4, IL13, and their receptors do not play a role in SSc and do not influence the expression of their corresponding transcript in peripheral blood cells. The Journal of Rheumatology",

author = "Broen, {Jasper C.A.} and Phillipe Dieude and Vonk, {Madelon C.} and Lorenzo Beretta and Carmona, {Francisco D.} and Ariane Herrick and Jane Worthington and Nicholas Hunzelmann and Gabriela Riemekasten and Hans Kiener and Rafaella Scorza and Simeon, {Carmen P.} and Vicent Fonollosa and Patricia Carreira and Norberto Ortego-Centeno and Gonzalez-Gay, {Miguel A.} and Paolo Airo' and Coenen, {Marieke J.} and Kelly Tsang and Aliprantis, {Antonios O.} and Javier Martin and Yannick Allanore and Radstake, {Timothy R.D.J.}",

year = "2012",

month = jan,

doi = "10.3899/jrheum.110235",

language = "English",

volume = "39",

pages = "112--118",

journal = "Journal of Rheumatology",

issn = "0315-162X",

number = "1",

}

Broen, JCA, Dieude, P, Vonk, MC, Beretta, L, Carmona, FD, Herrick, A, Worthington, J, Hunzelmann, N, Riemekasten, G, Kiener, H, Scorza, R, Simeon, CP, Fonollosa, V, Carreira, P, Ortego-Centeno, N, Gonzalez-Gay, MA, Airo', P, Coenen, MJ, Tsang, K, Aliprantis, AO, Martin, J, Allanore, Y & Radstake, TRDJ 2012, 'Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression', Journal of Rheumatology, vol. 39, no. 1, pp. 112-118. https://doi.org/10.3899/jrheum.110235

Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression. / Broen, Jasper C.A.; Dieude, Phillipe; Vonk, Madelon C. et al.
In: Journal of Rheumatology, Vol. 39, No. 1, 01.2012, p. 112-118.

Research output: Journal Articles › Journal articles › Research › peer-review

TY - JOUR

T1 - Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression

AU - Broen, Jasper C.A.

AU - Dieude, Phillipe

AU - Vonk, Madelon C.

AU - Beretta, Lorenzo

AU - Carmona, Francisco D.

AU - Herrick, Ariane

AU - Worthington, Jane

AU - Hunzelmann, Nicholas

AU - Riemekasten, Gabriela

AU - Kiener, Hans

AU - Scorza, Rafaella

AU - Simeon, Carmen P.

AU - Fonollosa, Vicent

AU - Carreira, Patricia

AU - Ortego-Centeno, Norberto

AU - Gonzalez-Gay, Miguel A.

AU - Airo', Paolo

AU - Coenen, Marieke J.

AU - Tsang, Kelly

AU - Aliprantis, Antonios O.

AU - Martin, Javier

AU - Allanore, Yannick

AU - Radstake, Timothy R.D.J.

PY - 2012/1

Y1 - 2012/1

N2 - Objective. Polymorphisms in the genes encoding interleukin 4 (IL4), interleukin 13 (IL13), and their corresponding receptors have been associated with multiple immune-mediated diseases. Our aim was to validate these previous observations in patients with systemic sclerosis (SSc) and scrutinize the effect of the polymorphisms on gene expression in various populations of peripheral blood leukocytes. Methods. We genotyped a cohort of 2488 patients with SSc and 2246 healthy controls from The Netherlands, Spain, United Kingdom, Italy, Germany, and France. Taqman assays were used to genotype single-nucleotide polymorphisms (SNP) in the following genes: (1) IL4 (-590C>T/rs2243250); (2) IL4 receptor alpha (IL4RA) (Q576R/rs1801275); (3) IL13 (R130Q/rs20541 and -1112C>T/rs1800925); and (4) IL13RA1 (43163G>A/rs6646259). The effect of these polymorphisms on expression of the corresponding genes was assessed using quantitative RT-PCR on RNA derived from peripheral blood B cells, T cells, plasmacytoid dendritic cells, monocytes, and myeloid dendritic cells. We investigated whether these polymorphisms influenced development of pulmonary complications over 15 years in patients with SSc. Results. None of the investigated polymorphisms was associated with SSc or any SSc clinical subtype. We did not observe any effect on transcript levels in the cell subtypes or on development of pulmonary complications. Conclusion. Our data showed that polymorphisms in IL4, IL13, and their receptors do not play a role in SSc and do not influence the expression of their corresponding transcript in peripheral blood cells. The Journal of Rheumatology

AB - Objective. Polymorphisms in the genes encoding interleukin 4 (IL4), interleukin 13 (IL13), and their corresponding receptors have been associated with multiple immune-mediated diseases. Our aim was to validate these previous observations in patients with systemic sclerosis (SSc) and scrutinize the effect of the polymorphisms on gene expression in various populations of peripheral blood leukocytes. Methods. We genotyped a cohort of 2488 patients with SSc and 2246 healthy controls from The Netherlands, Spain, United Kingdom, Italy, Germany, and France. Taqman assays were used to genotype single-nucleotide polymorphisms (SNP) in the following genes: (1) IL4 (-590C>T/rs2243250); (2) IL4 receptor alpha (IL4RA) (Q576R/rs1801275); (3) IL13 (R130Q/rs20541 and -1112C>T/rs1800925); and (4) IL13RA1 (43163G>A/rs6646259). The effect of these polymorphisms on expression of the corresponding genes was assessed using quantitative RT-PCR on RNA derived from peripheral blood B cells, T cells, plasmacytoid dendritic cells, monocytes, and myeloid dendritic cells. We investigated whether these polymorphisms influenced development of pulmonary complications over 15 years in patients with SSc. Results. None of the investigated polymorphisms was associated with SSc or any SSc clinical subtype. We did not observe any effect on transcript levels in the cell subtypes or on development of pulmonary complications. Conclusion. Our data showed that polymorphisms in IL4, IL13, and their receptors do not play a role in SSc and do not influence the expression of their corresponding transcript in peripheral blood cells. The Journal of Rheumatology

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U2 - 10.3899/jrheum.110235

DO - 10.3899/jrheum.110235

M3 - Journal articles

C2 - 22045834

AN - SCOPUS:84855382124

SN - 0315-162X

VL - 39

SP - 112

EP - 118

JO - Journal of Rheumatology

JF - Journal of Rheumatology

IS - 1

ER -

Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression

Abstract

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