Association of Vitamin D receptor gene polymorphism and Vitamin D status to explore as a risk factor in Visceral Leishmaniasis and Post Kala Azar Dermal Leishmaniasis patients in endemic regions of Bihar.

Abstract

The role of vitamin D and its receptors (VDR) in PKDL and VL remains uncharacterized at genetic level. This study aimed to explore the single nucleotide polymorphism of VDR gene (rs1544410, rs7975232, rs731236) in association with PKDL and VL infection. A significant difference was observed among VL and PKDL patients versus healthy group (p<0.0001) for Bsm1 polymorphism. The comparison of VL and PKDL patients versus healthy control of VDR genotypes AA and GA were found highly significant (p<0.0001). The risk for developing disease was 7.03 and 4.98 times greater in AA, while 2.49 and 2.97 times greater in GA in case of VL and PKDL patients, respectively. There was no statistical significant difference between VL and PKDL patients in VDR gene polymorphisms and allelic frequency (p>0.05). The RNA expression profile of VDR gene and CYP27B1 gene were upregulated in pretreated PKDL (1.4-1.6 fold), but in VL patients, CYP27B1 (2-3 folds) and VDR (1.5 fold) expression were down regulated. Vitamin D levels in VL patients were significantly lower (22.41 ± 10.57 ng/ml), than PKDL patients (42.19 ± 10.84 ng/ml) (p<0.01). However, no significant difference was observed in relation to the genetic data with age and sex for VL (p = 0.622) and PKDL (p = 0.786), clinical observations along with anthropometric indices. The Bsm1 gene polymorphisms may contribute in VL and PKDL infection as a risk factor.