title: Genetic variation in the promoter region of pro-inflammatory cytokine TNF-α in perinatal HIV transmission from Mumbai, India.
abstract: Various host factors such as cytokines and HLA, regulate the immune system and influence HIV transmission to infants exposed to HIV-1 through their mothers. Tumor Necrosis Factor Alpha (TNF-α) is a strong pro-inflammatory mediator and thought to influence vulnerability to HIV infection (and/or) transmission. Polymorphisms in regulatory regions are known to govern the production of this cytokine. However, the association of these variations in perinatal HIV transmission is yet to be established. Present study aimed to evaluate if polymorphisms in promoter region of TNF-α gene is associated with perinatal HIV transmission. With informed consent from parents, infants' blood was collected for HIV screening and SNPs analysis at 2 loci: TNF (rs1800629) and TNF (rs361525) using PCR-SSP method. HIV positive (n = 27) and negative (n = 54) children at the end of 18th month follow up were considered for this study. GG genotype, responsible for low expression of TNF (rs1800629) was significantly (p = 0.005) higher in uninfected children, while higher GA genotype frequency was observed in infected children. The 'G' allele frequency was significantly higher in negative children (p = 0.016). We conclude that genotypic variants of TNF (rs1800629) are a likely contributor to perinatal HIV transmission. This provides new insights in markers of differential susceptibility to perinatal HIV transmission.
authors.affiliation: Department of Infectious Diseases Biology, National Institute for Research in Reproductive Health (DHR/ICMR), J.M. Street, Parel, Mumbai 400 012, Maharashtra, India.
authors.forename: Swati
authors.initials: S
authors.lastname: Ahir
authors.affiliation: Department of Infectious Diseases Biology, National Institute for Research in Reproductive Health (DHR/ICMR), J.M. Street, Parel, Mumbai 400 012, Maharashtra, India. Electronic address: pramanikj@nirrh.res.in.
authors.forename: Jayanti
authors.initials: J
authors.lastname: Mania-Pramanik
authors.affiliation: Department of Infectious Diseases Biology, National Institute for Research in Reproductive Health (DHR/ICMR), J.M. Street, Parel, Mumbai 400 012, Maharashtra, India.
authors.forename: Vijay
authors.initials: V
authors.lastname: Chavan
authors.affiliation: Department of Infectious Diseases Biology, National Institute for Research in Reproductive Health (DHR/ICMR), J.M. Street, Parel, Mumbai 400 012, Maharashtra, India.
authors.forename: Shilpa
authors.initials: S
authors.lastname: Kerkar
authors.affiliation: Department of Obstetrics and Gynaecology, Seth G.S. Medical College & K.E.M. Hospital, J.M. Street, Parel, Mumbai 400 012, Maharashtra, India.
authors.forename: Padmaja
authors.initials: P
authors.lastname: Samant-Mavani
authors.affiliation: Department of Neonatology, Seth G.S. Medical College & K.E.M. Hospital, J.M. Street, Parel, Mumbai 400 012, Maharashtra, India.
authors.forename: Ruchi
authors.initials: R
authors.lastname: Nanavati
authors.affiliation: Department of Microbiology, Seth G.S. Medical College & K.E.M. Hospital, J.M. Street, Parel, Mumbai 400 012, Maharashtra, India.
authors.forename: Preeti
authors.initials: P
authors.lastname: Mehta
mesh_terms: D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D015658:HIV Infections / Q000276:immunology / Q000635:transmission* / Q000821:virology; D015497:HIV-1 / Q000302:isolation & purification; D006801:Humans; D007194:India; D007223:Infant; D018445:Infectious Disease Transmission, Vertical; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*; D019562:Viral Load
chemical_list: C439524:TNF protein, human; D014409:Tumor Necrosis Factor-alpha
keywords: Genetic variants; Perinatal HIV; SNPs; TNF-α