ApaI polymorphism of vitamin D receptor gene is associated with susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis in HTLV-1 infected individuals

J Neurol Sci. 2005 May 15;232(1-2):29-35. doi: 10.1016/j.jns.2005.01.005.

Abstract

HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is one outcome of human T-cell lymphotropic virus type-1 (HTLV-1) infection. It remains unknown why the majority of infected people remain healthy, whereas only approximately 2-3% of infected individuals develop the disease. The active form of vitamin D has immunomodulatory effects, and allelic variants of the vitamin D receptor (VDR) appear to be associated with differential susceptibility to several infectious diseases. To investigate whether VDR single nucleotide polymorphisms (SNPs) are associated with the development of HAM/TSP, we studied four VDR SNPs in a group of 207 HAM/TSP patients and 224 asymptomatic HTLV-1 seropositive carriers (HCs) in Kagoshima, Japan, by using PCR-RFLP analysis. We found that ApaI polymorphism of VDR is associated with the risk of HAM/TSP, although this polymorphism did not affect the provirus load of HTLV-1 in either HAM/TSP patients or HCs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • DNA / metabolism
  • Deoxyribonucleases, Type II Site-Specific / genetics
  • Female
  • Genotype
  • HTLV-I Infections / complications*
  • Heterozygote
  • Humans
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Monocytes / metabolism
  • Monocytes / pathology
  • Neopterin / cerebrospinal fluid
  • Paraparesis, Tropical Spastic / etiology*
  • Paraparesis, Tropical Spastic / genetics*
  • Polymorphism, Genetic
  • Receptors, Calcitriol / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sex Characteristics
  • Viral Load

Substances

  • Receptors, Calcitriol
  • Neopterin
  • DNA
  • endodeoxyribonuclease FokI
  • Deoxyribonucleases, Type II Site-Specific