title: SLC11A1 (Formerly NRAMP1) gene polymorphisms associated with pediatric tuberculosis in China.
abstract: BACKGROUND
  Tuberculosis is an urgent public health problem caused by Mycobacterium tuberculosis infection. Many factors, including host genetic factors, are involved in tuberculosis pathogenesis. The SLC11A1 gene (formerly NRAMP1) is a primary candidate for association with tuberculosis susceptibility.
  
  
  METHODS
  We examined the association between SLC11A1 polymorphisms and susceptibility to tuberculosis in Han Chinese children. The study included 136 pediatric patients with tuberculosis and 435 pediatric control subjects. Polymerase chain reaction restriction fragment-length polymorphism analysis was performed with blood samples to distinguish allele genotypes of INT4 (a G-->C single nucleotide change in intron 4, 469 + 14G/C) and the 3'UTR (TGTG deletion in the 3' untranslated region, 1729 + 55del) in the SLC11A1 gene. Differences in genotype frequency were analyzed for patients with tuberculosis and control subjects.
  
  
  RESULTS
  We did not identify any statistically significant differences between the tuberculosis and control groups with regard to the frequency of genotype variants G/C and C/C at the INT4 locus. The frequency of genotype variants (TGTG +/delete and TGTG delete/delete) was significantly higher in the tuberculosis group than in the control group at the 3'UTR locus. Differences in genotype distribution at the 3'UTR locus were only identified in female subjects, with a greater number of variant genotypes in the tuberculosis group.
  
  
  CONCLUSIONS
  Variant genotypes at the 3'UTR locus in the SLC11A1 gene were associated with pediatric tuberculosis in Chinese patients. Patient sex may affect the outcome of M. tuberculosis infection in children.
authors.affiliation: Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Jin
authors.forename: Lin
authors.initials: L
authors.lastname: Sun
authors.forename: Weiwei
authors.initials: W
authors.lastname: Jiao
authors.forename: Shunying
authors.initials: S
authors.lastname: Zhao
authors.forename: Huimin
authors.initials: H
authors.lastname: Li
authors.forename: Xiaolei
authors.initials: X
authors.lastname: Guan
authors.forename: Anxia
authors.initials: A
authors.lastname: Jiao
authors.forename: Zaifang
authors.initials: Z
authors.lastname: Jiang
authors.forename: Adong
authors.initials: A
authors.lastname: Shen
mesh_terms: D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004198:Disease Susceptibility; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009169:Mycobacterium tuberculosis / Q000302:isolation & purification*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion; D012737:Sex Factors; D014376:Tuberculosis / Q000235:genetics* / Q000382:microbiology; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1