Association of the wild-type A/A genotype of MBL2 codon 54 with asthma in a North Indian population

Background: High serumMBL level as well as polymorphisms in the mannose-binding lectin 2 (MBL2) gene resultingin MBL deficiency are involved in the mechanism of a number of non-infectious diseases such as asthma, conferring either riskor protection in different population studies. MBL being the first reactant of the MBL pathway is also a major determinant of thefate of the anaphylatoxins such as C3a and C5a, which are also pro-inflammatory mediators. The MBL2 gene polymorphismsthus 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 polymorphismin asthma pathogenesis. Methods: A case-control study was performed with a total of 992 adult subjects, including 410 adult asthmatics and 582 healthycontrols 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 withasthma 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.