Bi-allelic presence of the interleukin-10 receptor 1 G330R allele is associated with cirrhosis in chronic HCV-1 infection

Hofer, Harald; Neufeld, J B; Oesterreicher, C.; Grundtner, P; Wrba, Fritz; Gangl, Alfred; Ferenci, Péter; Gasché, Christoph

doi:10.1038/sj.gene.6364168

Cited by 19 publications

(17 citation statements)

References 46 publications

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“…Our results are in line with previous studies suggesting that the investigated IL-10R1 variants are loss-of-function alleles that may be associated with certain disease phenotypes when homozygously present [Hofer et al, 2005]. It is assumed that the variants analyzed in this study may potentially alter IL-10 signaling during immune stimulation.…”

Section: Discussionsupporting

confidence: 94%

Homozygosity of the interleukin‐10 receptor 1 G330R allele is associated with schizophrenia

Schosser

Aschauer

Wildenauer

et al. 2006

American J of Med Genetics Pt B

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Infections of unknown origin and an altered immune response have been hypothesized to play a role in the pathogenesis of schizophrenia. We have previously identified two single nucleotide polymorphisms (SNPs) of the IL-10 receptor 1 (IL-10R1) causing a substitution of glycine 330 to arginine (G330R) and of serine 138 to glycine (S138G). A possible association between these IL-10R1 variants and schizophrenia has been investigated in the present study. DNA of 101 unrelated Austrian patients with a DSM-III-R (Diagnostic and Statistical Manual of Mental Disorders) consensus diagnosis of schizophrenia (n = 70) or schizoaffective disorder (n = 31) and DNA of 121 German schizophrenic patients (DSM-III-R) was analyzed for the presence of S138G and G330R by allele-specific multiplex PCRs. Data from patients were compared with 250 unrelated, psychiatric healthy controls. No difference in allele frequency was detected between patients and controls (G330R: 34.0% vs. 30.0%, P = 0.208; S138G: 19.7% vs. 16.6%, P = 0.235; by Fisher's exact test). However, there was a significant difference in genotype distribution (wt/wt, wt/mut, mut/mut) for G330R between patients (46.8%, 38.3%, 14.9%) and controls (47.6%, 44.8%, 7.6%; Fisher's test P = 0.032). No such difference was seen for S138G. Our results suggest that homozygosity of the IL-10R1 G330R allele is associated with schizophrenia and may contribute to the expression of disease phenotype in susceptible individuals.

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Section: Discussionsupporting

confidence: 94%

Homozygosity of the interleukin‐10 receptor 1 G330R allele is associated with schizophrenia

Schosser

Aschauer

Wildenauer

et al. 2006

American J of Med Genetics Pt B

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“…31 This variant was recently correlated with hepatic cirrhosis in hepatitis C virus infection. 32 For the second variant (Ser138Gly), structure analyses suggested a potential impact on the conformation of the IL10-IL10RA complex. 31 In our study, this polymorphism was associated with a reduced risk of lymphoma, mainly driven by the 50% risk reduction for HL.…”

Section: Discussionmentioning

confidence: 99%

Gene polymorphisms in Toll-like receptors, interleukin-10, and interleukin-10 receptor alpha and lymphoma risk

et al. 2006

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Interactions between environment and immune system play an essential role in the aetiology of immunopathologies, including lymphomas. Toll-like receptors (TLR) belong to a group of pattern recognition receptors, with importance for innate immune response and inflammatory processes. Interleukin-10 (IL-10) is a key regulatory cytokine and has been implicated in lymphomagenesis. Functional polymorphisms in these inflammation-associated genes may affect the susceptibility towards lymphoma. To test this hypothesis, we have genotyped DNA of 710 lymphoma cases and 710 controls within the context of a population-based epidemiological study for 11 functionally important single-nucleotide polymorphisms in TLR1, À2, À4, À5, À9, IL10 and IL10 receptor (IL10RA). The IL10RA Ser138Gly variant was underrepresented among lymphoma cases (odds ratio (OR) ¼ 0.81, 95 per cent confidence interval (95% CI) ¼ 0.65-1.02), mainly owing to an inverse association with Hodgkin's lymphoma (HL). The TLR2 À16933T4A variant was associated with a 2.8-fold increased risk of follicular lymphoma (95% CI ¼ 1.43-5.59) and a decreased risk of chronic lymphocytic leukaemia (OR ¼ 0.61, 95% CI ¼ 0.38-0.95). Furthermore, the TLR4 Asp299Gly variant was positively associated with the risk of mucosa-associated lymphoid tissue lymphoma (OR ¼ 2.76, 95% CI ¼ 1.12-6.81) and HL (OR ¼ 1.80, 95% CI ¼ 0.99-3.26). In conclusion, this study suggests an effect of polymorphisms in factors of the innate immune response in the aetiology of some lymphoma subtypes.

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“…Potential roles for IL-10 receptor polymorphisms in infectious disease outcomes have also been suggested. Specifically, effects of IL-10R1 variants in hepatitis C [22, 23] and progression to AIDS [24]. On the other hand, IL-10 variants that modulate IL-10 transcript production also regulate AIDS progression in HIV-1 infected individuals [24–27].…”

Section: Introductionmentioning

confidence: 99%

Effect of Host Genetics on the Development of Cytomegalovirus Retinitis in Patients with AIDS

Sezgın¹,

Jabs²,

Hendrickson³

et al. 2010

J INFECT DIS

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Background Cytomegalovirus (CMV) retinitis is a common opportunistic infection among patients with AIDS and still causes visual morbidity despite the wide spread usage of highly active antiretroviral therapy (HAART). The ubiquitous CMV pathogen contains a human interleukin-10 (IL-10) homolog in its genome and utilizes it to evade host immune reactions through an IL-10 receptor mediated immune-suppression pathway. Methods Effects of IL-10R1, IL-10 and previously described AIDS restriction gene variants are investigated on the development of CMV retinitis in the Longitudinal Study of the Ocular Complications of AIDS (LSOCA) cohort (n=1284). Results In Europen Americans (n=750), a haplotype carrying an amino acid changing variation in the cytoplasmic domain (S420L) of IL-10R1 can be protective (OR = 0.14, CI: 0.02–0.94, P = 0.04) against, whereas another haplotype carrying an amino acid changing variation in the extracellular domain (I224V) of IL-10R1 can be more susceptible (OR = 6.21, CI: 1.22–31.54, P = 0.03) to CMV retinitis. In African Americans (n=534), potential effects of IL-10 variants are observed. Conclusion Host genetics may have a role in the occurrence of CMV retinitis in patients infected with HIV.

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Bi-allelic presence of the interleukin-10 receptor 1 G330R allele is associated with cirrhosis in chronic HCV-1 infection

Cited by 19 publications

References 46 publications

Homozygosity of the interleukin‐10 receptor 1 G330R allele is associated with schizophrenia

Homozygosity of the interleukin‐10 receptor 1 G330R allele is associated with schizophrenia

Gene polymorphisms in Toll-like receptors, interleukin-10, and interleukin-10 receptor alpha and lymphoma risk

Effect of Host Genetics on the Development of Cytomegalovirus Retinitis in Patients with AIDS

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