Cloning and functional analysis of the allelic polymorphism in the transcription regulatory region of interleukin-1α

Dominici, Roberto; Cattaneo, Monica; Malferrari, Giulia; Archi, Davide; Mariani, Claudio; Grimaldi, Luigi Maria Edoardo; Biunno, Ida

doi:10.1007/s00251-002-0445-9

Cited by 183 publications

(138 citation statements)

References 15 publications

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“…Our study also shows that this SNP lies within a DNase cluster, which is commonly found to contain cis-regulatory elements such as enhancers, promoters and silencers [42], but these elements have not been demonstrated for this locus so far. It is in agreement with previous studies that found this SNP has regulatory properties on IL1A gene expression [44]. Patients with the IL1A T allele may have higher levels of IL-1α in circulation with more intense inflammatory response.…”

Section: Discussionsupporting

confidence: 82%

IL1A rs1800587 Associates with Chronic Noncrisis Pain in Sickle Cell Disease

Jhun

Yao

et al. 2016

Pharmacogenomics

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Aim: Pain is prevalent in sickle cell disease (SCD) patients who display great heterogeneity in pain severity and frequency. Hypothesizing that inflammatory factors are involved in the pathogenesis of SCD pain, we focused on the IL1A C/T polymorphism rs1800587 that is an SNP located in a cis-transcriptional regulatory region. Methods: We genotyped IL1A rs1800587 and performed association studies with phenotype data obtained by a multidimensional pain assessment tool using the PAINReportIt ® Questionnaire. Results: Each T allele was associated with a 3.9 increase in composite pain index score (p = 0.04) as determined by multiple linear regression. Conclusion: IL1A rs1800587 may influence chronic pain in SCD.

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Section: Discussionsupporting

confidence: 82%

IL1A rs1800587 Associates with Chronic Noncrisis Pain in Sickle Cell Disease

Jhun

Yao

et al. 2016

Pharmacogenomics

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“…Cytokines are crucial regulators to promote or suppress inflammation. Single nucleotide polymorphisms (SNPs) of inflammatory cytokines may change the transcription rate and consequently the production of cytokines (Dominici et al 2002, Wen et al 2006, Prasad et al 2010, and thus may modify individual susceptibility to AITDs. Various cytokines and respective genetic polymorphisms have been reported to be associated with AITD, but the results are inconsistent (Chen et al 2005, Shiau et al 2006, Anvari et al 2010, Liu et al 2010, Yan et al 2012.…”

Section: Introductionmentioning

confidence: 99%

Polymorphism of IL37 gene as a protective factor for autoimmune thyroid disease

Ni¹,

Meng²,

Song³

et al. 2015

Journal of Molecular Endocrinology

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Autoimmune thyroid disease (AITD) comprises Graves' disease (GD) and Hashimoto's thyroiditis (HT). IL37 has been recently proved to be a natural suppressor for innate immunity and acquired immunity. Therefore, this study was conducted to identify the association of IL37 genetic polymorphisms with AITD in Chinese Han population. Polymorphisms of rs3811046/rs3811047/rs2723176/rs272186 in the IL37 gene were assessed in a case-control study comprising 701 GD patients, 301 HT patients and 939 controls. Genetic variants were genotyped by multiplex polymerase chain reaction and ligase detection reaction. The frequencies of the minor allele A of rs2723176 and A of rs2723186 were significantly lower in the GD patients than in the controls (PZ0.014, ORZ0.774; PZ0.014, ORZ0.777). After gender stratification, the rs3811046 G allele and the rs3811047/rs2723186 A allele were both significantly associated with a decreased risk of GD in female patients (PZ0.030, ORZ0.777; PZ0.023, ORZ0.774; PZ0.029, ORZ0.761). However, none of the four single nucleotide polymorphisms of IL37 gene showed any significant association with HT. Moreover, haplotype analysis revealed the GCG haplotype conferred increased risk for GD as a whole and in female GD patients (ORZ1.213; ORZ1.320). The ACG haplotype was associated with an increased risk of HT as a whole (ORZ1.567) and in male GD patients (ORZ1.820). In contrast, the AAA haplotype showed a protective role for GD as a whole (ORZ0.760) and in female GD patients (ORZ0.765). Our study strongly supports that the IL37 gene variants are associated with the susceptibility to AITD.

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“…Hence amongst the Swahili participants, the association between [rs1800587] IL-1A -889 and chronic periodontitis was similar to studies in Caucasians, probably reflecting that the genetic make-up is a mosaic with Caucasoid contribution. The increased destruction of the periodontium in those genotype-positive for IL-1A-889 allele1, are probably due to reduced production of IL-1α cytokine [30]. This leads to increased destruction of the periodontium due to low levels of IL-1α protein resulting in lowered recruitment of inflammatory cells.…”

Section: Discussionmentioning

confidence: 99%

“…This leads to increased destruction of the periodontium due to low levels of IL-1α protein resulting in lowered recruitment of inflammatory cells. Variations in IL-1α also affect the production of IL-1β [30,31]. The distribution of allele 2 at IL-1A locus -889 in Swahili participants was 80.4% in cases and 92.9% in controls, OR=0.32, 95%CI=1.16 -0.61, p<0.001.…”

Section: Discussionmentioning

confidence: 99%