Advanced

Influence of the IL6 Gene in Susceptibility to Systemic Sclerosis.

Cénit, Maria Carmen; Simeón, Carmen P; Vonk, Madelon C; Callejas-Rubio, Jose L; Espinosa, Gerard; Carreira, Patricia; Blanco, Francisco J; Narvaez, Javier; Tolosa, Carlos and Román-Ivorra, José A, et al. (2012) In Journal of Rheumatology
Abstract
OBJECTIVE: Systemic sclerosis (SSc) is a genetically complex autoimmune disease; the genetic component has not been fully defined. Interleukin 6 (IL-6) plays a crucial role in immunity and fibrosis, both key aspects of SSc. We investigated the influence of IL6 gene in the susceptibility and phenotype expression of SSc. METHODS: We performed a large metaanalysis including a total of 2749 cases and 3189 controls from 6 white populations (Germany, The Netherlands, Norway, Spain, Sweden, and United Kingdom). Three IL6 single-nucleotide polymorphisms (SNP; rs2069827, rs1800795, and rs2069840) were selected by SNP tagging and genotyped using TaqMan® allele discrimination technology. RESULTS: Individual SNP metaanalysis showed no evidence of... (More)
OBJECTIVE: Systemic sclerosis (SSc) is a genetically complex autoimmune disease; the genetic component has not been fully defined. Interleukin 6 (IL-6) plays a crucial role in immunity and fibrosis, both key aspects of SSc. We investigated the influence of IL6 gene in the susceptibility and phenotype expression of SSc. METHODS: We performed a large metaanalysis including a total of 2749 cases and 3189 controls from 6 white populations (Germany, The Netherlands, Norway, Spain, Sweden, and United Kingdom). Three IL6 single-nucleotide polymorphisms (SNP; rs2069827, rs1800795, and rs2069840) were selected by SNP tagging and genotyped using TaqMan® allele discrimination technology. RESULTS: Individual SNP metaanalysis showed no evidence of association of the 3 IL6 genetic variants with the global disease. Phenotype analyses revealed a significant association between the minor allele of rs2069840 and the limited cutaneous SSc clinical form (Bonferroni p = 0.036, OR 1.14, 95% CI 1.04-1.25). A trend of association between the minor allele of the rs1800795 and the diffuse cutaneous SSc clinical form was also evident (Bonferroni p = 0.072, OR 0.86, 95% CI 0.77-0.96). In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04-1.23). CONCLUSION: Our results suggest that the IL6 gene may influence the development of SSc and its progression. (Less)
Please use this url to cite or link to this publication:
author
, et al. (More)
(Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Rheumatology
publisher
J Rheumatol Publ Co
external identifiers
  • wos:000312355400010
  • pmid:23027890
  • scopus:84870315000
ISSN
0315-162X
DOI
10.3899/jrheum.120506
language
English
LU publication?
yes
id
a065cf22-3974-434e-876f-9395a6cb1eaf (old id 3161301)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/23027890?dopt=Abstract
date added to LUP
2012-11-01 12:05:41
date last changed
2017-10-29 04:27:51
@article{a065cf22-3974-434e-876f-9395a6cb1eaf,
  abstract     = {OBJECTIVE: Systemic sclerosis (SSc) is a genetically complex autoimmune disease; the genetic component has not been fully defined. Interleukin 6 (IL-6) plays a crucial role in immunity and fibrosis, both key aspects of SSc. We investigated the influence of IL6 gene in the susceptibility and phenotype expression of SSc. METHODS: We performed a large metaanalysis including a total of 2749 cases and 3189 controls from 6 white populations (Germany, The Netherlands, Norway, Spain, Sweden, and United Kingdom). Three IL6 single-nucleotide polymorphisms (SNP; rs2069827, rs1800795, and rs2069840) were selected by SNP tagging and genotyped using TaqMan® allele discrimination technology. RESULTS: Individual SNP metaanalysis showed no evidence of association of the 3 IL6 genetic variants with the global disease. Phenotype analyses revealed a significant association between the minor allele of rs2069840 and the limited cutaneous SSc clinical form (Bonferroni p = 0.036, OR 1.14, 95% CI 1.04-1.25). A trend of association between the minor allele of the rs1800795 and the diffuse cutaneous SSc clinical form was also evident (Bonferroni p = 0.072, OR 0.86, 95% CI 0.77-0.96). In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04-1.23). CONCLUSION: Our results suggest that the IL6 gene may influence the development of SSc and its progression.},
  author       = {Cénit, Maria Carmen and Simeón, Carmen P and Vonk, Madelon C and Callejas-Rubio, Jose L and Espinosa, Gerard and Carreira, Patricia and Blanco, Francisco J and Narvaez, Javier and Tolosa, Carlos and Román-Ivorra, José A and Gómez-García, Inmaculada and García-Hernández, Francisco J and Gallego, María and Garcia Sanchez, Rosa and Egurbide, María Victoria and Fonollosa, Vicente and de la Peña, Paloma García and López-Longo, Francisco J and González-Gay, Miguel A and Hesselstrand, Roger and Riemekasten, Gabriela and Witte, Torsten and Voskuyl, Alexandre E and Schuerwegh, Annemie J and Madhok, Rajan and Fonseca, Carmen and Denton, Christopher and Nordin, Annika and Palm, Oyvind and van Laar, Jacob M and Hunzelmann, Nicolas and Distler, Jörg H W and Kreuter, Alexander and Herrick, Ariane and Worthington, Jane and Koeleman, Bobby P and Radstake, Timothy R D J and Martín, Javier},
  issn         = {0315-162X},
  language     = {eng},
  month        = {10},
  publisher    = {J Rheumatol Publ Co},
  series       = {Journal of Rheumatology},
  title        = {Influence of the IL6 Gene in Susceptibility to Systemic Sclerosis.},
  url          = {http://dx.doi.org/10.3899/jrheum.120506},
  year         = {2012},
}