Department of Biotechnology, Panjab University, Chandigarh, India.
Department of Pulmonary Medicine, PGIMER, Chandigarh, India.
Allergy Asthma Immunol Res. 2014 May;6(3):234-41. doi: 10.4168/aair.2014.6.3.234. Epub 2014 Feb 12.
Asthma is the most prevalent disease in India according to the national survey conducted by NFHS 2 in 1998-1999. Matrix metalloproteinase-2 (MMP-2), a collagenase encoded by the MMP-2 gene, degrades the type IV collagen and is responsible for inflammatory responses. This is a pilot study evaluating the role of MMP-2 -1306C/T promoter single nucleotide polymorphism (SNP) in asthma pathogenesis.
A case-control study was performed with a total of 824 adult subjects, including 410 adult asthmatics and 414 healthy controls from regions of North India. The MMP-2 -1306C/T polymorphism was genotyped by the Tetra-Primer Amplification Refractory Mutation System Polymerase Chain Reaction (Tetra-Primer ARMS PCR).
Statistical analysis of the results for the MMP-2 -1306C/T polymorphism revealed an extremely protective role of the mutant T allele in asthma pathogenesis with OR=0.45, 95% CI (0.35-0.58) and P=0.000. The heterozygous CT genotype also conferred protection from asthma with OR=0.37, 95% CI (0.27-0.51) and P=0.000. The homozygous TT genotype was also significantly associated with asthma with OR=0.35, 95% CI (0.16-0.72) and P=0.002. Moreover, the polymorphism was significantly associated with all the phenotypic traits of the disease.
The MMP-2 -1306C/T promoter polymorphism confers significant protection from asthma in the studied North Indian population.
根据 1998-1999 年国家家庭健康调查（NFHS）进行的全国调查，哮喘是印度最常见的疾病。基质金属蛋白酶-2（MMP-2）是一种由 MMP-2 基因编码的胶原酶，可降解 IV 型胶原蛋白，负责炎症反应。这是一项评估 MMP-2-1306C/T 启动子单核苷酸多态性（SNP）在哮喘发病机制中的作用的初步研究。
进行了一项病例对照研究，共纳入 824 名成年受试者，包括来自印度北部地区的 410 名成年哮喘患者和 414 名健康对照者。采用 Tetra-Primer Amplification Refractory Mutation System Polymerase Chain Reaction（Tetra-Primer ARMS PCR）法对 MMP-2-1306C/T 多态性进行基因分型。
对 MMP-2-1306C/T 多态性的结果进行统计分析表明，突变 T 等位基因在哮喘发病机制中具有极其显著的保护作用，OR=0.45，95%CI（0.35-0.58），P=0.000。杂合子 CT 基因型也能保护机体免受哮喘的侵袭，OR=0.37，95%CI（0.27-0.51），P=0.000。纯合子 TT 基因型也与哮喘显著相关，OR=0.35，95%CI（0.16-0.72），P=0.002。此外，该多态性与疾病的所有表型特征均显著相关。
在本研究的印度北部人群中，MMP-2-1306C/T 启动子多态性对哮喘具有显著的保护作用。
