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首页> 外文期刊>Cytokine >Interleukin-1 receptor antagonist gene (IL1RN) polymorphism possibly associated to severity of rheumatic carditis in a Brazilian cohort.
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Interleukin-1 receptor antagonist gene (IL1RN) polymorphism possibly associated to severity of rheumatic carditis in a Brazilian cohort.

机译：在巴西队列中，白介素-1受体拮抗剂基因（IL1RN）多态性可能与风湿性心脏病的严重程度有关。

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AIMS: To evaluate the IL1RN polymorphism as a possible marker for Rheumatic Fever (RF) susceptibility or disease severity. METHODS: The genotypes of 84 RF patients (Jones criteria) and 84 normal race-matched controls were determined through the analysis of the number of 86-bp tandem repeats in the second intron of IL1RN. The DNA was extracted from peripheral-blood leukocytes and amplified with specific primers. Clinical manifestations of RF were obtained through a standardized questionnaire and an extensive chart review. Carditis was defined as new onset cardiac murmur that was perceived by a trained physician with corresponding valvae regurgitation or stenosis on echocardiogram. Carditis was classified as severe in the presence of congestive heart failure or upon the indication for cardiac surgery. The statistical association among the genotypes, RF and its clinical variations was determined. RESULTS: The presence of allele 1 and the genotype A1/A1 were found less frequently among patients with severe carditis when compared to patients without this manifestation (OR=0.11, p=0.031; OR=0.092, p=0.017). Neither allele 1 nor allele 2 were associated with the presence of RF (p=0.188 and p=0.106), overall carditis (p=0.578 and p=0.767), polyarthritis (p=0.343 and p=0.313) and chorea (p=0.654 and p=0.633). CONCLUSION: In the Brazilian population, the polymorphism of the IL-1ra gene is a relevant factor for rheumatic heart disease severity.
机译：目的：评估IL1RN多态性，作为风湿热（RF）易感性或疾病严重性的可能标志物。方法：通过分析IL1RN第二个内含子中86bp串联重复序列的数目，确定84例RF患者的基因型（琼斯标准）和84例正常种族匹配的对照。从外周血白细胞中提取DNA，并用特异性引物扩增。 RF的临床表现通过标准化的问卷调查和广泛的图表审查获得。心脏炎定义为新的心脏杂音，由经过培训的医师在超声心动图上察觉到相应的瓣膜反流或狭窄。在有充血性心力衰竭或有心脏手术指征的情况下，心脏炎被分类为严重。确定了基因型，RF及其临床变异之间的统计关联。结果：与无此症状的患者相比，重度心脏病患者中等位基因1和A1 / A1基因型的出现频率较低（OR = 0.11，p = 0.031; OR = 0.092，p = 0.017）。等位基因1和等位基因2均与RF的存在（p = 0.188和p = 0.106），整体性心脏病（p = 0.578和p = 0.767），多关节炎（p = 0.343和p = 0.313）和舞蹈病（p = 0.654和p = 0.633）。结论：在巴西人群中，IL-1ra基因的多态性与风湿性心脏病严重程度有关。

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