Noguchi E, Shibasaki M, Arinami T, Takeda K, Yokouchi Y, Kobayashi K, Imoto N, Nakahara S, Matsui A, Hamaguchi H
Department of Pediatrics, Institute of Clinical Medicine, Tsukuba, Japan.
Clin Exp Allergy. 1999 Feb;29(2):228-33. doi: 10.1046/j.1365-2222.1999.00458.x.
Susceptibility to the development of atopic diseases is known to involve genetic factors. Several investigators have reported the interleukin-4 (IL-4) receptor alpha gene to be involved in the development of atopy. Recent study has shown that the R allele of a polymorphism in the IL-4 receptor alpha chain gene (Q576R) to be associated with atopy.
The objective of this study was to evaluate the possible role of the IL-4 receptor alpha gene in modulating allergic response and asthma in the Japanese population.
We conducted linkage analysis using microsatellite markers flanking the IL-4 alpha receptor gene in 82 families ascertained through asthmatic children. The IL-4 receptor Q576R polymorphism was also genotyped by PCR-restriction fragment length polymorphism analysis.
We did not find evidence for linkage of the asthma and atopy phenotypes with the markers D16S298 and D16S403 (P = 0.10 and P = 0.56, respectively, for the atopy phenotype and P = 0.17 and P = 0.60, respectively, for the asthma phenotype). The IL-4 receptor R576 allele was not preferentially transmitted to atopy- or asthma-affected children (chi2 = 1.67, P = 0.24 for atopy and chi2 = 0.91, P = 0.40 for asthma). In addition, the prevalence of the R576 allele among parents with and without atopy was similar, 20 of 81 (24.7%) parents with atopy and 22 of 77 (28.6%) parents without atopy.
Our findings indicate that the IL-4 receptor alpha gene does not exert a substantial influence on the inheritance of atopy or asthma in this Japanese population.
已知特应性疾病的易感性涉及遗传因素。几位研究者报告白细胞介素-4(IL-4)受体α基因与特应性疾病的发生有关。最近的研究表明,IL-4受体α链基因(Q576R)多态性的R等位基因与特应性疾病相关。
本研究的目的是评估IL-4受体α基因在调节日本人群过敏反应和哮喘中的可能作用。
我们使用位于IL-4α受体基因两侧的微卫星标记,对通过哮喘儿童确定的82个家庭进行连锁分析。还通过聚合酶链反应-限制性片段长度多态性分析对IL-4受体Q576R多态性进行基因分型。
我们没有发现哮喘和特应性表型与标记D16S298和D16S403连锁的证据(特应性表型的P值分别为0.10和0.56,哮喘表型的P值分别为0.17和0.60)。IL-4受体R576等位基因没有优先传递给受特应性或哮喘影响的儿童(特应性的χ2 = 1.67,P = 0.24;哮喘的χ2 = 0.91,P = 0.40)。此外,有和没有特应性的父母中R576等位基因的患病率相似,81名有特应性的父母中有20名(24.7%),77名没有特应性的父母中有22名(28.6%)。
我们的研究结果表明,IL-4受体α基因对该日本人群中特应性或哮喘的遗传没有实质性影响。