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约旦人 ADAM33 基因多态性及其与变应性鼻炎的相关性研究。

Frequency of genetic polymorphisms of ADAM33 and their association with allergic rhinitis among Jordanians.

机构信息

Department of Pharmacology, Faculty of Medicine, The University of Jordan, Amman, Jordan.

出版信息

Gene. 2013 Dec 1;531(2):462-6. doi: 10.1016/j.gene.2013.08.085. Epub 2013 Sep 10.

DOI:10.1016/j.gene.2013.08.085
PMID:24035932
Abstract

Allergic rhinitis is a chronic inflammatory disease that is assumed to be due to an interaction between different genetic and/or environmental factors. A disintegrin and metalloprotease domain 33 (ADAM33) has been extensively studied as a susceptibility gene in asthma and has been linked to bronchial hyper-responsiveness. In this study, we investigated the association between ADAM33 single nucleotide polymorphisms and the incidence of allergic rhinitis among the Jordanian population. We conducted a case-control association study on 120 adult individuals diagnosed with allergic rhinitis and 128 normal healthy controls. 8 single-nucleotide polymorphisms in ADAM33 were genotyped using PCR-RFLP method. No significant differences in the allelic frequencies of all SNPs tested between AR patients and the control volunteers were found, although S2 C/G SNP showed a tendency toward significance with P=0.06. On the genotype level significant association were found in the following genotypes: T1 AA, T1 AG, T2 GG, T2 AG, T+1 GG, T+1 AG, V4 CG, S2 CC, S2 CG, Q-1AA. Seven haplotypes were present only within AR patients and eight haplotypes were completely absent from the AR patients. Three haplotypes exhibited significant association with AR P ≤ 0.05, two of them were present only in AR patients. In conclusion, the polymorphisms in the ADAM33 gene are associated with susceptibility to AR in the Jordanian population. Furthermore, the haplotype of the tested SNPs were also associated with the risk of AR.

摘要

变应性鼻炎是一种慢性炎症性疾病,被认为是由不同的遗传和/或环境因素相互作用引起的。解整合素金属蛋白酶 33(ADAM33)作为哮喘的易感基因已被广泛研究,并与支气管高反应性有关。在这项研究中,我们调查了 ADAM33 单核苷酸多态性与约旦人群变应性鼻炎发生率之间的关系。我们对 120 名确诊为变应性鼻炎的成年患者和 128 名正常健康对照者进行了病例对照关联研究。采用 PCR-RFLP 方法对 ADAM33 中的 8 个单核苷酸多态性进行了基因分型。虽然 S2 C/G SNP 与 P=0.06 有显著相关性,但在 AR 患者和对照组志愿者之间,所有检测 SNP 的等位基因频率均无显著差异。在基因型水平上,T1 AA、T1 AG、T2 GG、T2 AG、T+1 GG、T+1 AG、V4 CG、S2 CC、S2 CG、Q-1AA 基因型存在显著相关性。只有在 AR 患者中存在 7 种单体型,而在 AR 患者中完全不存在 8 种单体型。3 种单体型与 AR 显著相关,P≤0.05,其中 2 种仅存在于 AR 患者中。总之,ADAM33 基因的多态性与约旦人群变应性鼻炎的易感性有关。此外,测试 SNP 的单体型也与 AR 的风险相关。

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