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Published on: July 15, 2011
Association of TNF, MBL, and VDR polymorphisms with leprosy phenotypes
Bishwa R Sapkota1, Murdo Macdonald, William R Berrington
1Mycobacterial Research Laboratory, Anandaban Hospital, Kathmandu, Nepal.
Genetic variants in tumor necrosis factor (TNF) and mannose binding lectin (MBL) are associated with protection from leprosy. Vitamin D receptor (VDR) variants showed no significant association with leprosy phenotypes in this study.
Area of Science:
- Immunogenetics
- Infectious Diseases
- Leprosy Research
Background:
- Genetic factors influence leprosy susceptibility and clinical outcomes.
- Previous studies suggested associations between tumor necrosis factor (TNF), mannose binding lectin (MBL), and vitamin D receptor (VDR) gene variants and leprosy.
- Extensive validation of these genetic associations is needed.
Purpose of the Study:
- To validate associations between specific genetic polymorphisms in TNF, MBL, and VDR and leprosy clinical outcomes.
- To investigate the protective effects of these gene variants against leprosy and its reactions.
Main Methods:
- A case-control study was conducted in Nepal with 933 leprosy patients and 101 controls.
- Genotype frequencies of seven polymorphisms (TNF -308G/A, MBL C154T, G161A, G170A, VDR FokI, BsmI, TaqI) were analyzed.
- Patients included those with type I reversal reaction (RR) and erythema nodosum leprosum (ENL).
Main Results:
- The TNF -308A variant was associated with protection from leprosy (OR = 0.52, p = 0.016).
- The MBL G161A polymorphism showed an association with protection from lepromatous leprosy (OR = 0.33, p = 0.010).
- No significant associations were found for VDR polymorphisms with leprosy phenotypes.
Conclusions:
- The findings confirm previous associations of TNF -308A and MBL polymorphisms with protection against leprosy and lepromatous leprosy, respectively.
- The modest statistical significance indicates a need for further research to conclusively validate these genetic associations.
- Genetic variations in TNF and MBL may play a role in leprosy pathogenesis and clinical manifestation.
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