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意大利患者中髓过氧化物酶启动子-463 G/A多态性与白塞病无关联。

Lack of association of the -463 G/A myeloperoxidase promoter polymorphism with Behcet's disease in Italian patients.

作者信息

Atzeni F, Boiardi L, Casali B, Farnetti E, Sarzi-Puttini P, Pipitone N, Olivieri I, Cantini F, Salvi F, La Corte R, Triolo G, Filippini D, Paolazzi G, Salvarani C

机构信息

Unita di Reumatologia, Ospedale L. Sacco, Milano, Italy.

出版信息

Rheumatology (Oxford). 2007 Oct;46(10):1547-50. doi: 10.1093/rheumatology/kem224. Epub 2007 Sep 12.

Abstract

OBJECTIVE

To investigate potential associations between the -463 G/A myeloperoxidase (MPO) promoter polymorphism and susceptibility to, and clinical expression of, Behçet's disease (BD).

METHODS

One hundred and seventy-five Italian patients who satisfied the International Study Group criteria for BD and 235 healthy age- and sex-matched blood donors were genotyped for the -463 G/A promoter polymorphism of the MPO gene by molecular methods. The patients were subgrouped according to the presence or absence of clinical manifestations.

RESULTS

The distribution of allele and genotype frequencies of the MPO -463A/G polymorphism did not differ significantly between the BD patients and the healthy controls. Carriers of the -463 A allele (A/A or A/G) [odds ratio (OR) 0.7, 95% confidence interval (CI) 0.5-1.1] and homozygosity for A allele (OR 0.3, 95% CI 0.1-1.3) were less frequent among BD patients than among the controls, but the difference was not statistically significant. No significant associations were found when BD patients with and those without clinical manifestations were compared.

CONCLUSION

Our data suggest that the -463 G/A promoter polymorphism of the MPO gene is not associated with susceptibility to, and clinical expression of, BD in Italian patients.

摘要

目的

研究髓过氧化物酶(MPO)基因-463 G/A启动子多态性与白塞病(BD)易感性及临床表型之间的潜在关联。

方法

采用分子方法,对175例符合国际研究组白塞病诊断标准的意大利患者以及235名年龄和性别匹配的健康献血者进行MPO基因-463 G/A启动子多态性基因分型。根据是否存在临床表现对患者进行亚组分析。

结果

BD患者与健康对照者之间,MPO -463A/G多态性的等位基因和基因型频率分布无显著差异。BD患者中-463 A等位基因携带者(A/A或A/G)[比值比(OR)0.7,95%置信区间(CI)0.5 - 1.1]和A等位基因纯合子(OR 0.3,95% CI 0.1 - 1.3)的频率低于对照组,但差异无统计学意义。比较有临床表现和无临床表现的BD患者,未发现显著关联。

结论

我们的数据表明,MPO基因-463 G/A启动子多态性与意大利患者白塞病的易感性及临床表型无关。

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