Vitamin D receptor polymorphisms and susceptibility to tuberculosis in West Africa: a case-control and family study

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Vitamin D receptor (VDR) gene polymorphisms have been implicated in susceptibility to tuberculosis (TB), but reports have been inconsistent. We genotyped the VDR single-nucleotide polymorphisms (SNPs) FokI, BsmI, ApaI, and TaqI in 1139 case patients and control subjects and 382 families from The Gambia, Guinea, and Guinea-Bissau. The transmission-disequilibrium test on family data showed a significant global association of TB with SNP combinations FokI-BsmI-ApaI-TaqI and FokI-ApaI that were driven by the increased transmission to affected offspring of the FokI F and ApaI A alleles in combination. The ApaI A allele was also transmitted to affected offspring significantly more often than expected. Case-control analysis showed no statistically significant association between TB and VDR variants. BsmI, ApaI, and TaqI showed strong linkage disequilibrium. The significance of the family-based associations found between TB and FokI-BsmI-ApaI-TaqI and the FA haplotype supports a role for VDR haplotypes, rather than individual genotypes, in susceptibility to TB.


  • Liza Bornman
  • Sarah J Campbell
  • Katherine Fielding
  • Boubacar Bah
  • Jackson Sillah
  • Per Gustafson
  • Kebba Manneh
  • Ida Lisse
  • Angela Allen
  • Giorgio Sirugo
  • Aissatou Sylla
  • Peter Aaby
  • Keith P W J McAdam
  • Oumou Bah-Sow
  • Steve Bennett
External organisations
  • External Organization - Unknown
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Infectious Medicine
Original languageEnglish
Pages (from-to)1631-1641
JournalJournal of Infectious Diseases
Issue number9
Publication statusPublished - 2004
Publication categoryResearch
Externally publishedYes