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


CONCLUSIONS
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.
Department of Biotechnology, Panjab University, Chandigarh, India.
Niti
N
Birbian
Jagtar
J
Singh
Surinder Kumar
SK
Jindal
Amit
A
Joshi
Navneet
N
Batra
Neha
N
Singla
D000328:Adult; D001249:Asthma / Q000235:genetics*; D016022:Case-Control Studies; D003062:Codon; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007194:India; D008297:Male; D037601:Mannose-Binding Lectin / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
D003062:Codon; C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin