Martínez Daniela, Lema Diego, Del Carmen Moreno Dolores, Hipólito García Alexis, Valentina Garmendia Jenny, De Sanctis Juan Bautista
Invest Clin. 2016 Jun;57(2):176-186.
ADAM33 is a metalloproteinase important in the extracellular matrix for tissue remodeling, and, consequently, in asthma and chronic obstructive pulmonary disease (COPD). Several polymorphisms of the ADAM33 gene have been associated with enzyme activity. One of the most studied polymorphisms is V4, cytosine for guanine in the 3 'UTR region, and T1, adenine for guanine in the exon 19 of the gen. The aim of this study was to ascertain the possible association among single polymorphisms of ADAM33, V4 and T1, in Venezuelan patients with asthma or COPD. The polymorphisms V4 and T1 were analyzed in 303 individuals (103 asth- matic, 100 COPD and 100 controls) by PCR-RFLP (polymerase chain reaction and restriction fragment length polymorphisms). There was a significant difference (P<0.05) in the frequency of ADAM33 V4 polymorphism in both, asthmatic and COPD patients groups, as compared to controls. No significant differences (P=0.4) were found for T1 polymorphism. However, there were significant differences (P<O.05) when haplotypes and diplotypes of ADAM33 V4/T1 were compared in all three groups. It can be concluded that the polymorphism V4 of ADAM33 is associated with asthma or COPD in Venezuelan patients.
ADAM33是一种金属蛋白酶，在细胞外基质中对组织重塑很重要，因此在哮喘和慢性阻塞性肺疾病（COPD）中也很重要。ADAM33基因的几种多态性与酶活性有关。研究最多的多态性之一是V4，即3'UTR区域中胞嘧啶替换鸟嘌呤，以及T1，即该基因第19外显子中腺嘌呤替换鸟嘌呤。本研究的目的是确定委内瑞拉哮喘或COPD患者中ADAM33的单多态性V4和T1之间可能存在的关联。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对303名个体（103名哮喘患者、100名COPD患者和100名对照）的V4和T1多态性进行了分析。与对照组相比，哮喘患者组和COPD患者组中ADAM33 V4多态性的频率存在显著差异（P<0.05）。T1多态性未发现显著差异（P=0.4）。然而，在所有三组中比较ADAM33 V4/T1的单倍型和双倍型时存在显著差异（P<0.05）。可以得出结论，ADAM33的V4多态性与委内瑞拉患者的哮喘或COPD有关。
