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子宫珠蛋白相关蛋白1基因-112G/a多态性与西西里岛儿童特应性哮喘

Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian children.

作者信息

Rigoli Luciana, Di Bella Chiara, Procopio Vincenzo, Finocchiaro Giuseppe, Amorini Maria, Lo Giudice Giuseppina, Cuppari Caterina, Salpietro Carmelo Damiano

机构信息

Department of Pediatrics, Medical School, University of Messina, Messina, Italy.

出版信息

Allergy Asthma Proc. 2007 Nov-Dec;28(6):667-70. doi: 10.2500/aap.2007.28.3056.

Abstract

The secretory protein, uteroglobin-related protein 1 (UGRP1), is expressed mainly in the lung and trachea and recently has been implicated in asthma. The -112G to A transition in the promoter was reported to be associated with asthma in the Japanese population. However, this has not been replicated in other studies. The aim of this study was to find the association of the UGRP1 gene polymorphism with atopic asthma in the Sicilian population. We conducted a transmission disequilibrium test (TDT) in 73 trios identified through 113 pediatric patients being treated for asthma. A case-control study also was performed by comparing the 113 unrelated asthmatic children and 230 unrelated healthy Italian subjects (121 children and 109 adults). The -112 G/A polymorphism was genotyped by the polymerase chain reaction-restriction fragment length polymorphism method and direct sequencing. The TDT revealed that the -112A allele was not preferentially transmitted from the parents to asthmatic offspring (chi-square = 3.08; p = NS). Neither the presence of at least one A allele in an individual's genotype (sum of the G/A and A/A genotype) nor the -112A allele was more prevalent among the asthma subjects than among the control subjects. Our results suggest that the -112G/A polymorphism does not play a significant role in the genetic predisposition of the UGRP1 gene in atopic asthma in the Sicilian population.

摘要

分泌蛋白子宫珠蛋白相关蛋白1(UGRP1)主要在肺和气管中表达,最近被认为与哮喘有关。据报道,启动子中-112G到A的转变与日本人群的哮喘有关。然而,其他研究并未重复这一结果。本研究的目的是在西西里人群中寻找UGRP1基因多态性与特应性哮喘的关联。我们对113名接受哮喘治疗的儿科患者中确定的73个三联体进行了传递不平衡检验(TDT)。还通过比较113名无亲缘关系的哮喘儿童和230名无亲缘关系的健康意大利受试者(121名儿童和109名成人)进行了病例对照研究。采用聚合酶链反应-限制性片段长度多态性方法和直接测序对-112 G/A多态性进行基因分型。TDT显示,-112A等位基因并非优先从父母传递给哮喘后代(卡方=3.08;p=无显著性差异)。个体基因型中至少存在一个A等位基因(G/A和A/A基因型之和)以及-112A等位基因在哮喘受试者中均不比对照受试者中更普遍。我们的结果表明,-112G/A多态性在西西里人群特应性哮喘中UGRP1基因的遗传易感性中不发挥重要作用。

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