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Influence of the IL6 gene in susceptibility to systemic sclerosis
- Cenit, MC (author)
- Simeon, CP (author)
- Vonk, MC (author)
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- Callejas-Rubio, JL (author)
- Espinosa, G (author)
- Carreira, P (author)
- Blanco, FJ (author)
- Narvaez, J (author)
- Tolosa, C (author)
- Roman-Ivorra, JA (author)
- Gomez-Garcia, I (author)
- Garcia-Hernandez, FJ (author)
- Gallego, M (author)
- Garcia-Portales, R (author)
- Egurbide, MV (author)
- Fonollosa, V (author)
- de la Pena, PG (author)
- Lopez-Longo, FJ (author)
- Gonzalez-Gay, MA (author)
- Riemekasten, G (author)
- Witte, T (author)
- Voskuyl, AE (author)
- Schuerwegh, AJ (author)
- Madhok, R (author)
- Fonseca, C (author)
- Denton, C (author)
- Palm, O (author)
- van Laar, JM (author)
- Hunzelmann, N (author)
- Distler, JHW (author)
- Kreuter, A (author)
- Herrick, A (author)
- Worthington, J (author)
- Koeleman, BP (author)
- Radstake, TRDJ (author)
- Martin, J (author)
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- (creator_code:org_t)
- 2012-10-01
- 2012
- English.
- In: The Journal of rheumatology. - : The Journal of Rheumatology. - 0315-162X .- 1499-2752. ; 39:12, s. 2294-2302
- Journal article (peer-reviewed)
Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
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- ref (subject category)
- art (subject category)
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- Cenit, MC
- Simeon, CP
- Vonk, MC
- Callejas-Rubio, ...
- Espinosa, G
- Carreira, P
- show more...
- Blanco, FJ
- Narvaez, J
- Tolosa, C
- Roman-Ivorra, JA
- Gomez-Garcia, I
- Garcia-Hernandez ...
- Gallego, M
- Garcia-Portales, ...
- Egurbide, MV
- Fonollosa, V
- de la Pena, PG
- Lopez-Longo, FJ
- Gonzalez-Gay, MA
- Hesselstrand, Ro ...
- Riemekasten, G
- Witte, T
- Voskuyl, AE
- Schuerwegh, AJ
- Madhok, R
- Fonseca, C
- Denton, C
- Nordin, A
- Palm, O
- van Laar, JM
- Hunzelmann, N
- Distler, JHW
- Kreuter, A
- Herrick, A
- Worthington, J
- Koeleman, BP
- Radstake, TRDJ
- Martin, J
- Garcia Sanchez, ...
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- Karolinska Institutet
- Lund University
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