PMID- 24768180
OWN - NLM
STAT- MEDLINE
DCOM- 20140827
LR  - 20191210
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 545
IP  - 1
DP  - 2014 Jul 15
TI  - Vitamin-D pathway genes and HIV-1 disease progression in injection drug users.
PG  - 163-9
LID - S0378-1119(14)00466-1 [pii]
LID - 10.1016/j.gene.2014.04.035 [doi]
AB  - Vitamin-D has pleiotropic effects on calcium and bone metabolism, cellular growth 
      control, cell differentiation and modulation of both innate and acquired immune 
      response. Previous studies revealed the association of vitamin-D receptor gene 
      (VDR) polymorphism with infection diseases including HIV-1 infection. To assess 
      for association between polymorphisms of vitamin-D pathway genes CYP27B1, 
      vitamin-D binding protein (VDBP) and VDR with HIV-1 infection, disease 
      progression to acquired immunodeficiency syndrome (AIDS) was analysed according 
      to CDC93 criteria in a cohort of 185 HIV-1 seroprevalent patients belonging to 
      the injection drug users. Genotype data was obtained from rs10877012, rs3782130 
      and rs4646536 markers at CYP27B1 locus; rs7041 and rs4588 at VDBP locus; and 
      rs11568820, rs4516035, rs2228570, rs1544410 and rs17878969 at VDR locus. 
      Distribution of genotypes between patients grouped by outcome was compared by 
      contingency table analysis. Marker-marker interaction was assessed by a MDR 
      analysis. Assuming an additive model for VDR markers, a Kaplan-Meier survival 
      analysis was employed to evaluate association with disease progression. Among 
      vitamin-D pathway genes, VDR locus reveals specific 5'UTR and 3'UTR diplotype 
      combinations associated with both, slower and faster progression to AIDS. 
      Marker-marker interaction analysis indicates a strong interaction between VDR 
      markers and a redundant effect for CYP27B1 markers. According to our results, VDR 
      locus association follows an additive model in which increased genetic risk score 
      for the VDR is directly correlated with AIDS progression rates. Our data supports 
      a role of vitamin-D pathway gene variability on HIV-1 disease progression.
CI  - Copyright (c) 2014. Published by Elsevier B.V.
FAU - Laplana, Marina
AU  - Laplana M
AD  - Unitat de Genetica Humana, Departament de Ciencies Mediques Basiques, Universitat 
      de Lleida, Lleida, Catalonia, Spain; Genetic of Complex Disease Research Group, 
      Institut de Recerca Biomedica de Lleida (IRBLleida), Lleida, Catalonia, Spain.
FAU - Sanchez-de-la-Torre, Manuel
AU  - Sanchez-de-la-Torre M
AD  - Unitat de Genetica Humana, Departament de Ciencies Mediques Basiques, Universitat 
      de Lleida, Lleida, Catalonia, Spain.
FAU - Puig, Teresa
AU  - Puig T
AD  - Servei de Medicina Interna, Hospital Universitari Arnau de Vilanova, Lleida, 
      Catalonia, Spain.
FAU - Caruz, Antonio
AU  - Caruz A
AD  - Immunogenetics Unit, Faculty of Sciences, University of Jaen, Jaen, Spain.
FAU - Fibla, Joan
AU  - Fibla J
AD  - Unitat de Genetica Humana, Departament de Ciencies Mediques Basiques, Universitat 
      de Lleida, Lleida, Catalonia, Spain; Genetic of Complex Disease Research Group, 
      Institut de Recerca Biomedica de Lleida (IRBLleida), Lleida, Catalonia, Spain. 
      Electronic address: joan.fibla@cmb.udl.cat.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140421
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (3' Untranslated Regions)
RN  - 0 (5' Untranslated Regions)
RN  - 0 (Receptors, Calcitriol)
RN  - 1406-16-2 (Vitamin D)
RN  - EC 1.14.15.18 (25-Hydroxyvitamin D3 1-alpha-Hydroxylase)
SB  - IM
MH  - 25-Hydroxyvitamin D3 1-alpha-Hydroxylase/genetics
MH  - 3' Untranslated Regions
MH  - 5' Untranslated Regions
MH  - Acquired Immunodeficiency Syndrome/genetics
MH  - Cohort Studies
MH  - Disease Progression
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease
MH  - HIV Infections/*genetics
MH  - HIV-1
MH  - Haplotypes
MH  - Humans
MH  - *Polymorphism, Single Nucleotide
MH  - Receptors, Calcitriol/*genetics
MH  - Substance Abuse, Intravenous
MH  - Vitamin D/*genetics/metabolism
OTO - NOTNLM
OT  - CYP27B1
OT  - HIV-1
OT  - Progression to AIDS
OT  - VDR
OT  - Vitamin-D-binding protein
EDAT- 2014/04/29 06:00
MHDA- 2014/08/29 06:00
CRDT- 2014/04/29 06:00
PHST- 2014/01/23 00:00 [received]
PHST- 2014/04/17 00:00 [accepted]
PHST- 2014/04/29 06:00 [entrez]
PHST- 2014/04/29 06:00 [pubmed]
PHST- 2014/08/29 06:00 [medline]
AID - S0378-1119(14)00466-1 [pii]
AID - 10.1016/j.gene.2014.04.035 [doi]
PST - ppublish
SO  - Gene. 2014 Jul 15;545(1):163-9. doi: 10.1016/j.gene.2014.04.035. Epub 2014 Apr 
      21.