Jian Z, Nakayama J, Noguchi E, Shibasaki M, Arinami T
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Ibaraki, Japan.
Clin Exp Allergy. 2003 Jul;33(7):902-4. doi: 10.1046/j.1365-2222.2003.01703.x.
Susceptibility to asthma is known to involve genetic factors. Genome-wide screens have indicated that the chromosome 5q31-q34 region is linked to and/or associated with asthma. A new gene, named UGRP1 and reported by Niimi et al., encodes uteroglobin-related protein and is expressed in the lung and trachea. Niimi et al. showed the -112G/A polymorphism of the UGRP1 gene to be associated with asthma in a case-control study.
The objective of the present study was to replicate this association and confirm the possible role of the UGRP1-112G/A polymorphism in the aetiology of childhood asthma in a Japanese population.
We conducted a transmission disequilibrium test (TDT) in 131 families identified through paediatric patients being treated for asthma. A case-control study was also carried out by comparing the probands and 137 unrelated non-atopic non-asthmatic Japanese children and 211 unrelated healthy Japanese adults. The -112G/A polymorphism was genotyped by the PCR-RFLP method. The TDT revealed that the -112A allele was not preferentially transmitted to asthma-affected children (P=0.85). Neither the presence of at least one A allele in an individual's genotype (sum of the G/A and A/A genotypes) nor the -112A allele was more prevalent among the asthma subjects than among the control subjects.
Our findings indicate that the UGRP1-112G/A polymorphism does not play a substantial role in genetic predisposition to childhood asthma in this Japanese population.
已知哮喘易感性涉及遗传因素。全基因组筛查表明,5号染色体q31 - q34区域与哮喘相关联。Niimi等人报道了一个名为UGRP1的新基因,它编码子宫珠蛋白相关蛋白,在肺和气管中表达。Niimi等人在一项病例对照研究中表明,UGRP1基因的 - 112G/A多态性与哮喘相关。
本研究的目的是重复这种关联,并证实UGRP1 - 112G/A多态性在日本人群儿童哮喘病因学中的可能作用。
我们对131个通过治疗哮喘的儿科患者确定的家庭进行了传递不平衡检验(TDT)。还通过比较先证者与137名无亲缘关系的非特应性非哮喘日本儿童以及211名无亲缘关系的健康日本成年人进行了病例对照研究。采用PCR - RFLP方法对 - 112G/A多态性进行基因分型。TDT显示, - 112A等位基因并非优先传递给哮喘患儿(P = 0.85)。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等位基因在哮喘患者中并不比对照组更普遍。
我们的研究结果表明,UGRP1 - 112G/A多态性在该日本人群儿童哮喘的遗传易感性中不发挥重要作用。