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家族性地中海热基因与哮喘防护

Familial Mediterranean fever gene and protection against asthma.

作者信息

Rabinovitch Einat, Harats Dror, Yaron Pnina, Luvish Tamar, Lidar Merav, Kedem Ron, Shaish Aviv, Ben-Dov Issahar, Livneh Avi

机构信息

Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Israel.

出版信息

Ann Allergy Asthma Immunol. 2007 Dec;99(6):517-21. doi: 10.1016/S1081-1206(10)60380-8.

Abstract

BACKGROUND

Asthma is an inflammatory airway disease caused by interaction between susceptibility genes and diverse environmental factors. In Israel, asthma seems to be familial and more severe in patients of Iraqi Jewish descent. On the other hand, asthma is less frequent in individuals with familial Mediterranean fever, an autoinflammatory disease prevalent in the Iraqi Jewish community and linked to mutations in the familial Mediterranean fever gene, designated MEFV.

OBJECTIVES

To explore a possible role for mutated MEFV in the reduced susceptibility to asthma and to determine its expression in Israeli subjects of Iraqi origins.

METHODS

Using a case-control approach, we studied the presence of the 3 most common MEFV mutations (M694V, V726A, and E148Q) in DNA samples from 75 patients with asthma and 45 asymptomatic first-degree relatives, all of Iraqi Jewish origin. The severity of asthma was evaluated using a published severity score.

RESULTS

Eleven patients with asthma and 14 of their relatives carried 1 or 2 mutations in the MEFV gene, a carrier rate significantly lower in patients with asthma than in their first-degree relatives and in ethnically matched healthy individuals (P < .03 and P < .003, respectively). Carriers of MEFV mutations had less severe disease, compared with noncarriers (P < .002).

CONCLUSION

These findings suggest that MEFV mutations may have a protective effect in the pathogenesis of asthma.

摘要

背景

哮喘是一种由易感基因与多种环境因素相互作用引起的气道炎症性疾病。在以色列,哮喘似乎具有家族性,且在伊拉克犹太裔患者中更为严重。另一方面,在家族性地中海热患者中哮喘的发病率较低,家族性地中海热是一种在伊拉克犹太社区中普遍存在的自身炎症性疾病,与家族性地中海热基因(称为MEFV)的突变有关。

目的

探讨突变的MEFV在降低哮喘易感性中的可能作用,并确定其在伊拉克裔以色列受试者中的表达情况。

方法

采用病例对照研究方法,我们研究了来自75例哮喘患者和45例无症状一级亲属(均为伊拉克犹太裔)的DNA样本中3种最常见的MEFV突变(M694V、V726A和E148Q)的存在情况。使用已发表的严重程度评分评估哮喘的严重程度。

结果

11例哮喘患者及其14名亲属在MEFV基因中携带1种或2种突变,哮喘患者的携带率显著低于其一级亲属和种族匹配的健康个体(分别为P <.03和P <.003)。与非携带者相比,MEFV突变携带者的疾病严重程度较低(P <.002)。

结论

这些发现表明MEFV突变可能在哮喘发病机制中具有保护作用。

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