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Article type: Research Article
Authors: Birbian, Niti | Singh, Jagtar | Jindal, Surinder Kumar | Joshi, Amit | Batra, Navneet | Singla, Neha
Affiliations: Department of Biotechnology, Panjab University, Chandigarh, India | Department of Pulmonary Medicine, PGIMER, Chandigarh, India | Department of Biotechnology, S.G.G.S. College, Chandigarh, India | Department of Biotechnology, G.G.D.S.D. College, Chandigarh, India
Note: [] Corresponding author: Dr. Jagtar Singh, Department of Biotechnology, Panjab University, Chandigarh, India. Tel.: +91 172 253 4065; Fax: +91 172 2541407; E-mail: [email protected]
Abstract: Background: High serum MBL level as well as polymorphisms in the mannose-binding lectin 2 (MBL2) gene resulting in MBL deficiency are involved in the mechanism of a number of non-infectious diseases such as asthma, conferring either risk or protection in different population studies. MBL being the first reactant of the MBL pathway is also a major determinant of the fate of the anaphylatoxins such as C3a and C5a, which are also pro-inflammatory mediators. The MBL2 gene polymorphisms thus control the serum levels of MBL as well as C3a and C5a. Objective: This is the first case-control study conducted in India, investigating the role of MBL2 codon 54 A/B polymorphism in asthma pathogenesis. Methods: A case-control study was performed with a total of 992 adult subjects, including 410 adult asthmatics and 582 healthy controls from regions of North India. The MBL2 codon 54 A/B polymorphism was genotyped by PCR-RFLP. Results: Statistical analysis for the codon 54 polymorphism revealed that the wild (A) allele was significantly associated with asthma with OR=1.9, 95% CI (1.4–2.4), and p< 0.001. Conclusion: The MBL2 codon 54 A/B polymorphism is significantly associated with asthma and its phenotypic traits as the wild (A/A) genotype confers a significant risk towards the disease in the studied North Indian population.
Keywords: Asthma, mannose-binding lectin 2 (MBL2), anaphylatoxins, C3a, C5a, MBL2 codon 54 A/B polymorphism, North Indian population
DOI: 10.3233/DMA-2012-0892
Journal: Disease Markers, vol. 32, no. 5, pp. 301-308, 2012
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