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. 2012 May 3;32(5):301–308. doi: 10.3233/DMA-2012-0892

Association of the Wild-Type A/A Genotype of MBL2 Codon 54 with Asthma in a North Indian Population

Niti Birbian 1, Jagtar Singh 1,*, Surinder Kumar Jindal 2, Amit Joshi 3, Navneet Batra 4, Neha Singla 1
PMCID: PMC3826906  PMID: 22674410

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.

Keywords: Asthma, mannose-binding lectin 2 (MBL2), anaphylatoxins, C3a, C5a, MBL2 codon 54 A/B polymorphism, North Indian population

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