Journal of Dermatological Science, online 23 December 2017 https://doi.org/10.1016/j.jdermsci.2017.12.007
- Leprosy associated with changes to Vitamin D receptor genes (VDR)– April 2015
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Highlights from PDF
A new polymorphism, A61894G, in VDR gene was associated to leprosy
The transversion (G>A) conferred susceptibility for disease in PB group
T61968C and A61894G polymorphisms interaction are crucial in M. leprae infection
TCAA genotype and negative Mitsuda presented 28.33-fold chance to develop the leprosy
Download the PDF from Sci-Hub via VitaminDWiki
Chance of leprosy occurrence (odds ratio) by association of VDR gene polymorphisms and Mitsuda test results in patients and household contacts
Leprosy appears to also be related to many of the other VDR gene polymorphisms
VDR polymorphism, gene expression and vitamin D levels in leprosy patients from North Indian population
PLOS x, Nov 27, 2018 https://doi.org/10.1371/journal.pntd.0006823
Itu Singh , Mallika Lavania, Vinay Kumar Pathak , Madhvi Ahuja , Ravindra P. Turankar, Vikram Singh, Utpal Sengupta
Leprosy is a chronic infectious disease caused by Mycobacterium leprae and mainly affects skin, peripheral nerves. Vitamin D receptor (VDR) gene polymorphism has been found to be associated with leprosy. Vitamin D has been shown to control several host immunomodulating properties through VDR gene. Vitamin D deficiency was also found to be linked to an increased risk for several infections and metabolic diseases.
In the present study, we investigated the association of VDR gene polymorphism, mRNA gene expression of VDR and the vitamin D levels with leprosy and its reactional states.
A total of 305 leprosy patients consisting of tuberculoid (TT), borderline tuberculoid (BT), borderline lepromatous (BL), lepromatous leprosy (LL), as well as 200 healthy controls were enrolled in the study. We identified single nucleotide polymorphisms (SNPs) of VDR Taq1, Fok1 and Apa1, as well as the expression of VDR mRNA gene using PCR-based restriction fragment length polymorphism (RFLP) analysis and real-time PCR respectively. We also performed ELISA to measure vitamin D levels.
We observed that SNP of VDR gene (Fok1 and Taq1) are associated with the leprosy disease. The allelic frequency distribution of T and t allele (p = 0.0037), F and f allele (p = 0.0024) was significantly higher in leprosy patients and healthy controls. ff genotype of Fok1 was found to be associated with leprosy patients [p = 0.0004; OR (95% CI) 3.148 (1.662–5.965)]. The recessive model of Fok1 genotype was also found to be significantly associated in leprosy patients in comparison to healthy controls [p = 0.00004; OR (95% CI) 2.85 (1.56–5.22)]. Leprosy patients are significantly associated with t-F-a haplotype. Further, VDR gene expression was found to be lower in non-reaction group compared to that of reaction group of leprosy and healthy controls. Paradoxically, we noted no difference in the levels of vitamin D between leprosy patients and healthy controls.
Blood levels of vitamin D do not play any role in clinical manifestations of any forms of leprosy. ff genotype of Fok1 and tt genotype of Taq1 was found to be associated with leprosy per se. Association of t-F-a haplotype with leprosy was found to be significant and could be used as a genetic marker to identify individuals at high risk for developing leprosy. VDR gene expression was lower in TT/BT and BL/LL groups of leprosy in comparison to that of healthy controls.
Present study was carried out to find out the association of vitamin D receptor (VDR) gene polymorphism, mRNA gene expression of VDR gene and level of vitamin D with leprosy reactions and leprosy patients. Surprisingly, level of vitamin D in leprosy patients was not found to be associated with the disease and its manifestations. VDR genotypes (Fok1 and Taq1) were found to be associated with leprosy patients. t-F-a haplotype was significantly associated with leprosy patients. Gene expression of vitamin D receptor was lower in leprosy patients in comparison to healthy controls.
- "For the correlation of plasma VDR level and the bacterial index, using Spearman correlation, there was strong negative correlation between plasma VDR level and bacterial index (r = – 0.954; p < 0.001)."
- Leprosy Wikipedia
infection by the bacterium Mycobacterium leprae or Mycobacterium lepromatosis.
" Most new cases occur in 16 countries, with India accounting for more than half."
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