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IL1RN intron 2 polymorphism caused by variable number tandem repeats is associated with 1-year outcome in patients with ischaemic stroke.

ABSTRACT: Results of experimental and clinical studies suggest that recombinant human interleukin 1 receptor antagonist (rhIL1ra) may be a good new therapeutic agent for acute stroke. In humans, IL1ra is encoded by the IL1RN gene located on chromosome 2.To report on the association between different genotypes of the variable number tandem repeat (VNTR) polymorphism within IL1RN, and disease severity and 1-year outcome in patients with ischaemic stroke.IL1RN genotypes were evaluated using polymerase chain reaction in 391 patients with ischaemic stroke diagnosed according to the World Health Organization definition. The effects of IL1RN genotypes on severity of stroke at maximum impairment, and on the survival status and neurological and functional condition of patients at 7 days, 1 month, 3 months and 1 year after the onset, were evaluated.No relationship was found between IL1RN genotypes and severity of symptoms at the time of maximum impairment. Homozygotes for the IL1RN*2 allele showed less severe neurological and functional impairments when assessed after the time period between 7 days and 1 year after stroke compared with carriers of the other two IL1RN genotypes. Patients with at least one copy of the IL1RN*2 allele had increased risk of death during the first week, and patients homozygotic for this allele had increased risk of death within the first month after stroke.IL1RN intron 2 variable number tandem repeats polymorphism influences the clinical outcome in patients with ischaemic stroke. It may possibly modify effects of treatment with rhIL1ra in patients with acute stroke.

SUBMITTER: Gromadzka G

PROVIDER: S-EPMC2077654 | biostudies-literature | 2007 Feb

REPOSITORIES: biostudies-literature

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IL1RN intron 2 polymorphism caused by variable number tandem repeats is associated with 1-year outcome in patients with ischaemic stroke.

Gromadzka G G Sarzynska-Dlugosz I I Czlonkowska A A

Journal of neurology, neurosurgery, and psychiatry 20060915 2

<h4>Background</h4>Results of experimental and clinical studies suggest that recombinant human interleukin 1 receptor antagonist (rhIL1ra) may be a good new therapeutic agent for acute stroke. In humans, IL1ra is encoded by the IL1RN gene located on chromosome 2.<h4>Objectives</h4>To report on the association between different genotypes of the variable number tandem repeat (VNTR) polymorphism within IL1RN, and disease severity and 1-year outcome in patients with ischaemic stroke.<h4>Methods</h4> ...[more]

PMID: 16980335

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Project description:Immunity and cytokines serve crucial roles in cutaneous melanoma. The present study investigated whether a variable number tandem repeat (VNTR) polymorphism of interleukin-1 receptor antagonist (IL-1RA) gene (IL-1RN) located in intron 2 (rs2234663) is associated with cutaneous melanoma. A total of 515 subjects were studied, 133 of which were cutaneous melanoma cases (72 stage I+II non-metastatic melanoma cases and 61 stage III+IV metastatic melanoma cases), and 382 subjects were matching healthy controls from the Friuli-Venezia-Giulia Region located in Northeast Italy, an area with a high melanoma incidence. The IL-1RN-VNTR polymorphism was determined by DNA fragment length analysis following PCR amplification. According to the number of 86-bp repeats, five different IL-1RN alleles were identified: Allele 1 (4-repeats), allele 2 (2-repeats, short allele), allele 3 (5-repeats), allele 4 (3-repeats) and allele 5 (6-repeats). Alleles with three or more 86-bp repeats, i.e. allele 1, 3, 4 and 5 were collectively denoted as long (L) repeats. The present study revealed that IL-1RN-VNTR 1/2 and 2/L genotypes were more frequent among patients with cutaneous melanoma (43.6 and 45.1%, respectively) compared with healthy controls [29.6 and 30.6%, respectively; odds ratio (OR), 1.84; CI, 1.22-2.77; P=0.003; and OR, 1.66; CI, 1.24-2.79; P=0.002, respectively]. Conversely, the IL-1RN-VNTR 1/1 genotype was less frequent among melanoma cases (45.9%) compared with healthy controls (57.9%; OR, 0.62; CI, 0.41-0.92; P=0.017). Comparison of metastatic vs. non-metastatic melanoma cases identified no significant differences. The present study first demonstrated that carriage of the 1/1 IL-1RN-VNTR genotype was protective, whereas 1/2 and 2/L was a risk factor for patients with cutaneous melanoma vs. healthy controls. The short allele 2 was associated with higher expression levels of IL-1RA, a potent competitive inhibitor of the proinflammatory cytokines IL-1? and IL-1?. VNTR-IL-1RN polymorphism may affect susceptibility to melanoma and, thus, it is a potential novel diagnostic biomarker for melanoma. The present study increased the understanding of genetic melanoma susceptibility/carcinogenesis, and may indicate novel strategies in the personalized prevention of cutaneous melanoma.

Dataset Information

IL1RN intron 2 polymorphism caused by variable number tandem repeats is associated with 1-year outcome in patients with ischaemic stroke.

Publications

IL1RN intron 2 polymorphism caused by variable number tandem repeats is associated with 1-year outcome in patients with ischaemic stroke.

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