No evidence of association between functional polymorphisms located within <scp><i>IL6R</i></scp> and <scp><i>IL6ST</i></scp> genes and systemic sclerosis

Cénit, M C; Simeón, Carmen P.; Fonollosa, V.; Espinosa, Gerard; Beltrán, E.; Sáez‐Comet, Luis; Vicente-Rabaneda, Esther F.; García–Hernández, Francisco J.; Martínez-Estupiñán, Lina; Rodríguez-Carballeira, Mónica; Hernández, V. Hernández; Peña, Paloma García de la; Fernández‐Castro, Mónica; Narváez, Francisco Javier; Pros, Ana; Gallego, M.; Ríos-Fernández, Raquel; Camps, Maite; Fernández‐Nebro, Antonio; Egurbide, María Victoria; Carreira, Patrícia; Martı́n, Javier

doi:10.1111/j.1399-0039.2012.01915.x

Cited by 5 publications

(3 citation statements)

References 29 publications

(33 reference statements)

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“…The frequency of the minor C allele of IL-6R Asp358Ala (rs2228145) found in this study for the control (34.7%, 95% IC 27 -43) was similar to Americans (39.6%) (Qi, Rifai and Hu, 2007), Spanish (39.3%) (Cenit et al, 2012), Polish (33.2%) (Kapelski et al, 2015) and lower than in Korean (44.5%) (Kim et al, 2004) populations. We have not found information about this polymorphism in T1D.…”

Section: Discussionsupporting

confidence: 61%

Research Article Polymorphisms rs1800795 of interleukin-6 and rs2228145 of interleukin-6 receptor genes in Euro-Brazilians with adult-onset type 1 diabetes mellitus

Campos¹,

Graciolo²,

Sousa³

et al. 2019

Genet. Mol. Res.

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Type 1 Diabetes mellitus (T1D) is caused by the immune-mediated destruction of insulin-producing islet β cells, and its pathogenesis involves cytokines. Genetic background may influence cytokine signals, and polymorphisms may determine their impact on T1D autoimmunity. Several polymorphisms in and close to Interleukin-6 (IL-6) and Interleukin-6 Receptor (IL-6R) have been identified as associated with pathological processes. We investigated the IL-6 promoter-174G>C (rs1800795) and IL-6R Asp358Ala (rs2228145) polymorphisms in 141 Euro-Brazilian patients with adult-onset type 1 diabetes (diagnosis > 18 years old) and 150 healthy controls, matched by gender and age. Genotyping for both polymorphisms was performed by PCR-RFLP. PCR fragments for rs1800795 with Hsp92II and rs1800795 with HindIII were resolved by 15% polyacrylamide gel electrophoresis. The polymorphisms in both groups were in Hardy-Weinberg equilibrium. IL-6 rs1800795 was not different between healthy controls and T1D subjects, showing 27.3% (95% CI, 20-35%) and 30.1% (23-38%) for the C minor allele (-174C), respectively. For IL-6R rs2228145, the ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 18 (3): gmr18260 L.P. Campos et al. 2 genotype (P = 0.046) and allele (P = 0.021) were different in the groups. The frequencies for rs2228145 C minor allele (358Ala) were 34.7% (27-43%) and 44.0% (36-51%) for controls and T1D subjects, respectively. In conclusion, IL-6 rs1800795 was not associated with adult-onset T1D; however, IL-6R rs2228145 was associated with T1D development in adulthood, and carriers of the minor C allele are at increased risk for adult-onset T1D (OR = 1.48; 95% CI = 1.06-2.07).

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Section: Discussionsupporting

confidence: 61%

Research Article Polymorphisms rs1800795 of interleukin-6 and rs2228145 of interleukin-6 receptor genes in Euro-Brazilians with adult-onset type 1 diabetes mellitus

Campos¹,

Graciolo²,

Sousa³

et al. 2019

Genet. Mol. Res.

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“…35,42,43 Also, no significant correlations were detected between this SNP and susceptibility to systemic sclerosis. 48 However, some studies reported an association of the IL-6R Asp358Ala allele C with increased risk of atopic dermatitis and decreased risk of RA. 46,49 It should be noted that the relatively limited sample size constitutes a major limitation of the present study that could result in a statistical power insufficient to detect small or moderate effects.…”

Section: Discussionmentioning

confidence: 99%

“…Response to biological therapy in RA Lack of association [35,[42][43][44] Risk of cardiovascular disease in RA Lack of association [29,45] RA susceptibility C allele associated with decreased risk [46] Disease activity in RA C allele in patients correlated with lower disease activity [47] Susceptibility to systemic sclerosis Lack of association [48] Susceptibility to atopic dermatitis Allele C correlated with increased risk of disease [49] Pharmacogenomics and Personalized Medicine 2021:14 years. Fifty-four patients had type 1 psoriasis, the rest had type 2 psoriasis.…”

Section: Il-6r Asp358alamentioning

confidence: 99%

Relationship Between Interleukin-6 −174G/C Genetic Variant and Efficacy of Methotrexate Treatment in Psoriatic Arthritis Patients

Sokolik¹,

Iwaszko²,

Świerkot³

et al. 2021

PGPM

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Introduction The purpose of the study was to investigate whether single-nucleotide polymorphisms (SNPs) IL-6 −174 G/C and IL-6R Asp358Ala are associated with susceptibility to psoriatic arthritis (PsA) or affect response to treatment with methotrexate (MTX). Patients and Methods Seventy-four patients diagnosed with PsA and qualified for MTX treatment were enrolled to the study. The control group consisted of 120 healthy individuals. Polymorphisms IL-6 −174 G/C and IL-6R Asp358Ala were genotyped using a polymerase chain reaction (PCR) amplification employing LightSNiP assays. Results A significant association between the IL-6 −174 CC genotype and an improved clinical outcome of MTX therapy was observed. A good response was more frequently observed among PsA patients bearing the IL-6 −174 CC genotype than patients with the GC or GG genotypes ( P = 0.007). On the other hand, patients carrying the IL-6 −174 GC genotype less frequently responded to MTX treatment as compared to patients with other genotypes ( P = 0.006). With respect to the IL-6R Asp358Ala SNP, there were no significant differences in genotype and allelic frequencies in relation to clinical outcome of MTX treatment. No association was found between the IL-6 −174 G/C or IL-6R Asp358Ala SNPs and PsA susceptibility. Conclusion Results from this study provide evidence that the IL-6 −174 G/C polymorphism might influence efficacy of MTX treatment.

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Genetics of immunoglobulin-A vasculitis (Henoch-Schönlein purpura): An updated review

López‐Mejías

Castañeda

Genre

et al. 2018

Autoimmunity Reviews

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Immunoglobulin-A vasculitis (IgAV) is classically a childhood small-sized blood vessel vasculitis with predominant involvement of the skin. Gastrointestinal and joint manifestations are common in patients diagnosed with this condition. Nephritis, which is more severe in adults, constitutes the most feared complication of this vasculitis. The molecular bases underlying the origin of IgAV have not been completely elucidated. Nevertheless, several pieces of evidence support the claim that genes play a crucial role in the pathogenesis of this disease. The human leukocyte antigen (HLA) region is, until now, the main genetic factor associated with IgAV pathogenesis. Besides a strong association with HLA class II alleles, specifically HLA-DRB1 alleles, HLA class I alleles also seem to influence on the predisposition of this disease. Other gene polymorphisms located outside the HLA region, including those coding cytokines, chemokines, adhesion molecules as well as those related to T-cells, aberrant glycosylation of IgA1, nitric oxide production, neoangiogenesis, renin-angiotensin system and lipid, Pyrin and homocysteine metabolism, may be implicated not only in the predisposition to IgAV but also in its severity. An update of the current knowledge of the genetic component associated with the pathogenesis of IgAV is detailed in this review.

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No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis

Cited by 5 publications

References 29 publications

Research Article Polymorphisms rs1800795 of interleukin-6 and rs2228145 of interleukin-6 receptor genes in Euro-Brazilians with adult-onset type 1 diabetes mellitus

Research Article Polymorphisms rs1800795 of interleukin-6 and rs2228145 of interleukin-6 receptor genes in Euro-Brazilians with adult-onset type 1 diabetes mellitus

Relationship Between Interleukin-6 −174G/C Genetic Variant and Efficacy of Methotrexate Treatment in Psoriatic Arthritis Patients

Genetics of immunoglobulin-A vasculitis (Henoch-Schönlein purpura): An updated review

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