Association of Tag I, Fok I and Apa I polymorphisms in Vitamin D Receptor (VDR) gene with leprosy

作者：Neela Venkata Sanjeev Kumar; Suryadevara Naveen Chandra; Shinde Vidya Gouri; Pydi Satya Sudheer; Jain Suman; Jonnalagada Subbanna; Singh Surya Satyanarayana; Valluri Vijaya Lakshmi; Anandaraj M P J S^*

来源：Human Immunology, 2015, 76(6): 402-405.

DOI：10.1016/j.humimm.2015.04.002

• Vitamin D Receptor
• Leprosy
• Polymorphisms
• Haplotype

Background: Vitamin D Receptor (VDR) is a transacting transcription factor which mediates immunomodulatory function and plays a key role in innate and adaptive immune responses through its ligand and polymorphisms in VDR gene may affect its regulatory function.
Objective: To investigate the association of three VDR gene polymorphisms (TaqI rs731236, FokI rs2228570 and ApaI rs7975232) with leprosy.
Methods: The study group includes 404 participants of which 222 were leprosy patients (paucibacillary = 87, multibacillary = 135) and 182 healthy controls. Genotyping was done using PCR-RFLP technique. Statistical analysis was performed using SNP Stats and PLINK software.
Results: The VDR FokI (rs2228570) ff genotype, ApaI (rs7975232) AA, Aa genotype and haplotype T-f-a, T-F-A were positively associated with leprosy when compared to healthy controls.
Conclusion: The two variants at Fok and Apa positions in VDR gene are significantly associated with leprosy. Genotypes at FokI (ff), ApaI (aa) and haplotype (T-F-a, T-f-a) may contribute to the risk of developing leprosy by altering VDR phenotype/levels subsequently modulation of immune response.

• 出版日期2015-6