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Highly Protective Association of MMP-2-1306C/T Promoter Polymorphism With Asthma in a North Indian Population: A
Niti Birbian1, Jagtar Singh1, Surinder Kumar Jindal2
1Department of Biotechnology, Panjab University, Chandigarh, India.
Purpose:
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.
Methods:
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).
Results:
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.
Conclusion:
The MMP-2 -1306C/T promoter polymorphism confers significant protection from asthma in the studied North Indian population.
Insights
This study found that the MMP-2 -1306C/T promoter polymorphism offers significant protection against asthma in North India. The T allele and its genotypes (CT, TT) were associated with a reduced risk of developing asthma.
Area of Science:
- Genetics and Molecular Biology
- Respiratory Medicine
- Human Population Studies
Background:
- Asthma is a major public health concern in India, identified as the most prevalent disease in national surveys.
- Matrix metalloproteinase-2 (MMP-2), an enzyme involved in collagen degradation and inflammation, is implicated in various pathological processes.
- The role of specific genetic variations, such as single nucleotide polymorphisms (SNPs) in the MMP-2 gene promoter, in asthma pathogenesis requires further investigation.
Purpose of the Study:
- To evaluate the association between the MMP-2 -1306C/T promoter single nucleotide polymorphism (SNP) and asthma in a North Indian population.
- To investigate the potential protective role of the MMP-2 -1306C/T polymorphism in the development of asthma.
- To examine the relationship between this polymorphism and various asthma phenotypic traits.
Main Methods:
- A case-control study was conducted with 410 adult asthma patients and 414 healthy adult controls from North India.
- Genotyping of the MMP-2 -1306C/T polymorphism was performed using Tetra-Primer Amplification Refractory Mutation System Polymerase Chain Reaction (Tetra-Primer ARMS PCR).
- Statistical analyses, including odds ratios (OR) and confidence intervals (CI), were used to assess the association between the polymorphism and asthma.
Main Results:
- The T allele of the MMP-2 -1306C/T polymorphism demonstrated a highly protective effect against asthma (OR=0.45, P=0.000).
- Both heterozygous (CT) and homozygous (TT) genotypes of this polymorphism were significantly associated with protection from asthma (CT: OR=0.37, P=0.000; TT: OR=0.35, P=0.002).
- The MMP-2 -1306C/T polymorphism showed a significant association with all evaluated phenotypic traits of asthma.
Conclusions:
- The MMP-2 -1306C/T promoter polymorphism provides significant protection against asthma in the North Indian population studied.
- This finding suggests a potential genetic marker for asthma risk or protection within this demographic.
- Further research may explore the functional mechanisms underlying the protective role of this MMP-2 polymorphism in asthma.
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