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

Authors: Birbian, Niti  Singh, Jagtar  Jindal, Surinder Kumar  Joshi, Amit  Batra, Navneet  Singla, Neha 
Citation: Birbian N, etal., Dis Markers. 2012;32(5):301-8. doi: 10.3233/DMA-2012-0892.
Pubmed: (View Article at PubMed) PMID:22674410
DOI: Full-text: DOI:10.3233/DMA-2012-0892


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.

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CRRD Object Information
CRRD ID: 12910828
Created: 2017-06-26
Species: All species
Last Modified: 2017-06-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.