title: Association of Taq I, Fok I and Apa I polymorphisms in Vitamin D Receptor (VDR) gene with leprosy.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: LEPRA India - Blue Peter Public Health & Research Centre (BPHRC), Hyderabad, Telangana, India.
authors.forename: Venkata Sanjeev Kumar
authors.initials: VS
authors.lastname: Neela
authors.affiliation: LEPRA India - Blue Peter Public Health & Research Centre (BPHRC), Hyderabad, Telangana, India.
authors.forename: Naveen Chandra
authors.initials: NC
authors.lastname: Suryadevara
authors.affiliation: LEPRA India - Blue Peter Public Health & Research Centre (BPHRC), Hyderabad, Telangana, India.
authors.forename: Vidya Gouri
authors.initials: VG
authors.lastname: Shinde
authors.affiliation: LEPRA India - Blue Peter Public Health & Research Centre (BPHRC), Hyderabad, Telangana, India.
authors.forename: Satya Sudheer
authors.initials: SS
authors.lastname: Pydi
authors.affiliation: Thalassemia and Sickle Cell Anaemia Society (TSCS), Hyderabad, Telangana, India.
authors.forename: Suman
authors.initials: S
authors.lastname: Jain
authors.affiliation: LEPRA India - Blue Peter Public Health & Research Centre (BPHRC), Hyderabad, Telangana, India.
authors.forename: Subbanna
authors.initials: S
authors.lastname: Jonnalagada
authors.affiliation: Department of Biochemistry, Osmania University, Hyderabad, Telangana, India.
authors.forename: Surya Satyanarayana
authors.initials: SS
authors.lastname: Singh
authors.affiliation: LEPRA India - Blue Peter Public Health & Research Centre (BPHRC), Hyderabad, Telangana, India.
authors.forename: Vijaya Lakshmi
authors.initials: VL
authors.lastname: Valluri
authors.affiliation: LEPRA India - Blue Peter Public Health & Research Centre (BPHRC), Hyderabad, Telangana, India.
authors.forename: M P J S
authors.initials: MP
authors.lastname: Anandaraj
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D004262:DNA Restriction Enzymes / Q000737:chemistry*; D005260:Female; D015870:Gene Expression; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007918:Leprosy / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics* / Q000276:immunology; D012306:Risk
chemical_list: D018167:Receptors, Calcitriol; C579457:VDR protein, human; D004262:DNA Restriction Enzymes
keywords: Haplotype; Leprosy; Polymorphisms; Vitamin D Receptor