波兰支气管哮喘患者人糖皮质激素受体基因NR3C1功能性单核苷酸多态性作用研究
2011/11/22
摘要
糖皮质激素受体基因(NR3C1)N363S和ER22/23EK的多态性在支气管哮喘的发生中起到了重要作用。NR3C1基因与个体间的糖皮质激素(GC)敏感性差异有关。本试验旨在研究波兰哮喘患者中NR3C1基因多态性与哮喘间的关系。研究收集了207例健康受试者和221例哮喘患者的外周血标本。采用PCR-RFLP法进行基因分型。在哮喘未得到控制的中度哮喘和重度哮喘患者中,基因多态性分析得到如下基因分型结果:N363S-AA, AG, GG出现频率分别为0.881、0.073和0.046;ER22/23EK-GG, GA, AA出现频率分别为0.963、0.037和0.000。卡方检验显示,N363S多态性分布特点在哮喘患者和对照者之间存在显著差异(P < 0.05)。NR3C1基因的N363S多态性与支气管哮喘、中重度未控制支气管哮喘易感性显著相关。
(刘国梁 审校)
Mol Biol Rep. 2011 Oct 21. [Epub ahead of print]
The role of functional single nucleotide polymorphisms of the human glucocorticoid receptor gene NR3C1 in Polish patients with bronchial asthma.
Panek M, Pietras T, Antczak A, Górski P, Kuna P, Szemraj J.
Source
Department of Internal Medicine, Asthma and Allergy, Medical University of Lodz, Kopcińskiego 22, 90-153, Lodz, Poland, michalmp@poczta.onet.pl.
Abstract
N363S and ER22/23EK polymorphisms observed within glucocorticoid receptor gene (NR3C1) may play an important role in the development of bronchial asthma. NR3C1 gene is associated with an altered sensitivity to GCs. The aim of the research project was to study the correlation between this NR3C1 gene polymorphisms and occurrence of asthma in the population of Polish asthmatics. Peripheral blood was obtained from 207 healthy volunteers and 221 asthma patients. Genotyping was carried out with PCR-RFLP method. In the groups of patients with uncontrolled moderate asthma and uncontrolled severe disease, the genotype distribution for the investigated polymorphisms was as follows: N363S-AA, AG, GG occurring with 0.881/0.073/0.046 frequency and ER22/23EK-GG, GA, AA occurring with 0.963/0.037/0.000 frequency. Chi-square analysis revealed a significantly different (P < 0.05) distribution between cases and controls for the N363S polymorphisms. The N363S polymorphism of NR3C1 gene is significantly associated with bronchial asthma, susceptibility to the development of moderate to severe form of uncontrolled bronchial asthma。
Mol Biol Rep. 2011 Oct 21. [Epub ahead of print]
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