Abstract
Background: High serumMBL 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.
Highlights
Asthma is a complex genetic inflammatory disorder of the lungs, characterized by acute bronchial hyper responsiveness (BHR), shortness of breath (SOB), chest tightness, cough and sputum production in response to a variety of external stimuli [36], with or without atopy [26].Mannose-binding lectin (MBL), an active component of the innate immune system, is a Ca-dependent serum protein synthesized by the hepatocytes in the liver [6]
A total of 992 subjects, including 410 adult asthma patients and 582 adult healthy controls were genotyped for the mannose-binding lectin 2 (MBL2) codon 54 A/B polymorphism
Statistical analysis of the results indicated that the mutant B allele was more prevalent among the controls (21.8%) than in asthma patients (13.0%) while the overall genotypic distribution of the wild allele (A) was higher among asthma patients (87.0%) as compared to the controls (78.2%), conferring a significant risk towards asthma as there was a positive association between asthma and the A allele with OR = 1.9, 95% CI (1.4–2.4) and p < 0.001 (Table 2)
Summary
Asthma is a complex genetic inflammatory disorder of the lungs, characterized by acute bronchial hyper responsiveness (BHR), shortness of breath (SOB), chest tightness, cough and sputum production in response to a variety of external stimuli [36], with or without atopy [26].Mannose-binding lectin (MBL), an active component of the innate immune system, is a Ca-dependent serum protein synthesized by the hepatocytes in the liver [6]. N. Birbian et al / Association of the wild-type A/A genotype of MBL2 codon 54 with asthma in a North Indian population mannose-binding lectin (MBL) pathway, which is one of the major pathways of the complement system [7]. 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. Objective: This is the first case-control study conducted in India, investigating the role of MBL2 codon 54 A/B polymorphism in asthma pathogenesis. 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
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
