Vitamin D status, vitamin D receptor gene polymorphism, and haplotype in patients with cutaneous leishmaniasis: Correlation with susceptibility and parasite load index

• Published in: PLoS neglected tropical diseases 2023-06, Vol.17 (6), p.e0011393-e0011393
• Main Authors: Salem, Doaa A, Alghamdi, Mohammad A, Al-Ghamdi, Hasan S, Alghamdi, Bakheet A, Elsamanoudi, Ayman Zaki Elsayed, Hasan, Abdulkarim
• Format: Article
• Language: English
• Subjects: Alfacalcidol; Alleles; Analysis; Biology and Life Sciences; Biopsy; Calcifediol; Calciferol; Care and treatment; Correlation; Cutaneous leishmaniasis; Defence mechanisms; Diagnosis; Disease susceptibility; Dosage and administration; Endemism; Frequency; Gene frequency; Gene polymorphism; Genetic aspects; Genetic polymorphisms; Genotypes; Genotyping; Haplotypes; Health care; History; Immune response; Immunity; Leishmaniasis, Cutaneous; Lesions; Medicine and Health Sciences; Metabolism; Modulators; Outpatient care facilities; Parasites; Parasitic diseases; Physical sciences; Polymorphism; Protozoa; Protozoal infections; Receptors; Restriction fragment length polymorphism; Serum; Serum levels; Single-nucleotide polymorphism; Statistical analysis; Susceptibility; Therapy; Tropical diseases; Vector-borne diseases; Vitamin D; Vitamin D receptors; Vitamin deficiency; Vitamins
• ISSN: 1935-2735; 1935-2727; 1935-2735
• DOI: 10.1371/journal.pntd.0011393

CL endemicity was reported worldwide including in Saudi Arabia, imposing a major challenge on the health authorities. Vitamin D and its receptor (VDR) are key modulators of the immune response where the VDR is expressed. A remarkable lack of data exists in humans about the contribution of vitamin D and polymorphisms of the VDR gene in protozoan infections, especially cutaneous leishmaniasis (CL). This is the first work conducted to assess the relationship between vitamin D status, polymorphisms of the VDR gene (BsmI, ApaI, TaqI, and FokI), and VDR haplotype with parasite tissue load and susceptibility to CL. Fifty-two patients with confirmed CL (21 patients receiving vitamin D medication and 31 patients not receiving it) and 46 control subjects participated in this cross-sectional investigation. VDR genotyping was determined by restriction fragment length polymorphism analysis. Serum levels of 25-OH vitamin D were assessed using the ELISA method in all participants. The skin biopsy quantified the parasite load based on the Ridley parasitic index. The mean serum level of 25-OH vitamin D in CL patients who were not receiving vitamin D therapy was significantly lower compared to CL patients on vitamin D therapy and controls (p 0.05). When compared to controls, CL cases had a considerably greater frequency of the "B-A-T-F" haplotype (p = 0.04), and a significantly lower frequency of the "B-a-T-F" haplotype (p = 0.01) suggesting that these haplotypes may have the potential susceptibility or protection against CL respectively. The "Aa" genotype in ApaI SNP of VDR had considerably lower levels of vitamin D with higher