title: Analysis of genetic variants in the IL4 promoter and VNTR loci in Indian patients with Visceral Leishmaniasis.
abstract: Visceral Leishmaniasis (VL) is the most severest form of Leishmaniasis and resistance to infection is mediated by cellular immune responses. Interleukin 4 (IL-4) orchestrates of Th2 and Th1 immune responses during infections. In this study, we aimed to investigate possible association between three functional IL-4 polymorphisms -590C/T (rs2243250), -34C/T (rs2070874) and 70bp VNTR (rs79071878 in intron3) with VL in an Indian cohort comprising of 197 VL patients and 193 healthy controls. The three investigated IL-4 polymorphisms were in strong linkage disequilibrium. The investigated IL-4 alleles, genotypes and the reconstructed haplotypes were not significantly distributed between the VL patients and healthy controls. Our study signifies no possible association of functional IL-4 polymorphisms with Indian VL and postulate other vital genes involved in the IL-4 pathway may provide genetic clues to elucidate of IL-4 regulation and immune-pathogenesis during VL.
authors.affiliation: CSIR - Center for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Anshuman
authors.initials: A
authors.lastname: Mishra
authors.affiliation: CSIR - Center for Cellular and Molecular Biology, Hyderabad, India; Sickle Cell Institute Chattisgarh (SCIC), Raipur, India.
authors.forename: Aditya Nath
authors.initials: AN
authors.lastname: Jha
authors.affiliation: Institute of Tropical Medicine, University of Tübingen, Tübingen, Germany.
authors.forename: Hoang
authors.initials: H
authors.lastname: van Tong
authors.affiliation: CSIR - Center for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Vipin Kumar
authors.initials: VK
authors.lastname: Singh
authors.affiliation: Universidade Federal do Rio Grande do Norte, Natal, Brazil.
authors.forename: Carlos E M
authors.initials: CE
authors.lastname: Gomes
authors.affiliation: CSIR - Center for Cellular and Molecular Biology, Hyderabad, India; Banaras Hindu University, Varanasi, India; Genome Foundation, Hyderabad, India.
authors.forename: Lalji
authors.initials: L
authors.lastname: Singh
authors.affiliation: Institute of Tropical Medicine, University of Tübingen, Tübingen, Germany; Fondation Congolaise pour la Recherche Medicale, Brazzaville, People's Republic of Congo. Electronic address: velavan@medizin.uni-tuebingen.de.
authors.forename: Thirumalaisamy P
authors.initials: TP
authors.lastname: Velavan
authors.affiliation: CSIR - Center for Cellular and Molecular Biology, Hyderabad, India. Electronic address: thangs@ccmb.res.in.
authors.forename: Kumarasamy
authors.initials: K
authors.lastname: Thangaraj
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D007111:Immunity, Cellular / Q000235:genetics*; D007194:India; D015847:Interleukin-4 / Q000235:genetics*; D007891:Leishmania / Q000276:immunology / Q000472:pathogenicity; D007898:Leishmaniasis, Visceral / Q000235:genetics / Q000276:immunology*; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D018598:Minisatellite Repeats / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: C508598:IL4 protein, human; D015847:Interleukin-4
keywords: India; Interleukin 4; Leishmania donovani; VNTR; Visceral Leishmaniasis