Vitamin D receptor gene polymorphisms and susceptibility to Mycobacterium malmoense pulmonary disease

J Infect Dis. 2000 Jun;181(6):2099-102. doi: 10.1086/315489. Epub 2000 May 31.


Polymerase chain reaction using sequence-specific primers was utilized to ascertain the prevalence of 3 polymorphisms of the vitamin D receptor (VDR) gene (FokI F/f, ApaI A/a, and TaqI T/t) in 56 patients with Mycobacterium malmoense pulmonary disease. When compared with 101 controls, M. malmoense patients displayed an increased prevalence of Apa1 A (P=.03; Fisher's exact test), TaqI t (P=.04), and the At VDR haplotype (P=.04), and they displayed a decreased prevalence of FokI f (P=.04). Only 4 (7%) of 56 patients (vs. 29 [28%] of 101 controls) were both positive for FokI f and negative for At (P=.001). This indicates that polymorphisms in the VDR (or in closely linked genes) modulate the susceptibility to M. malmoense and that susceptibility involves multiple genetic and environmental factors.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Disease Susceptibility
  • Haplotypes
  • Humans
  • Lung Diseases / etiology*
  • Mycobacterium Infections / etiology*
  • Opportunistic Infections / etiology*
  • Phenotype
  • Polymorphism, Genetic*
  • Receptors, Calcitriol / genetics*


  • Receptors, Calcitriol