PMID- 11134121
OWN - NLM
STAT- MEDLINE
DCOM- 20010202
LR  - 20220316
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 85
IP  - 12
DP  - 2000 Dec
TI  - Vitamin D receptor gene polymorphism is associated with Graves' disease in the 
      Japanese population.
PG  - 4639-43
AB  - Susceptibility to Graves' disease (GD), which is determined by environmental and 
      genetic factors, is conferred by genes in the human leukocyte antigen (HLA) and 
      genes unlinked to HLA, including the CTLA-4 gene. We recently described the 
      association of GD with the vitamin D receptor (VDR) exon 2 initiation codon 
      (VDR-FOK:I) polymorphism. An association of some VDR genotypes with osteoporosis, 
      primary hyperparathyroidism, and some autoimmune diseases, such as 
      insulin-dependent diabetes mellitus and multiple sclerosis, has been reported. We 
      investigated the distribution of VDR gene polymorphism in 180 Japanese patients 
      with GD (48 males and 132 females) and 195 controls (67 males and 128 females). A 
      VDR allelic polymorphism was assessed by BSM:I endonuclease restriction after 
      specific PCR amplification. Genotypic polymorphism was clearly defined as BB (no 
      restriction site on both alleles), bb (restriction site on both alleles), or Bb 
      (heterozygous). The distribution of genotype frequencies differed between 
      patients with GD and controls (chi(2) = 7.53; 2 degrees of freedom; P: = 0.023). 
      The relative risk conferred by at least 1 B allele (BB or Bb) was 1.5. We also 
      found an association between VDR-APA:I polymorphism and GD. No relation was 
      detected between this polymorphism and the VDR-FOK:I polymorphism in the 
      patients. The present results support the association of the VDR gene with GD in 
      Japanese by showing that the VDR gene could be a non-HLA-linked gene predisposing 
      an individual to GD. The role of the VDR gene polymorphism should be further 
      studied in other populations, and the distribution of other polymorphisms, such 
      as the polyadenylase polymorphism further down the VDR 3'-untranslated region, 
      should be studied in terms of GD susceptibility.
FAU - Ban, Y
AU  - Ban Y
AD  - Third Department of Internal Medicine, Showa University School of Medicine, 1-5-8 
      Hatanodai, Shinagawa, Tokyo 142-8666, Japan. yshsban@ns2.cc.showa-u.ac.jp
FAU - Taniyama, M
AU  - Taniyama M
FAU - Ban, Y
AU  - Ban Y
LA  - eng
PT  - Clinical Trial
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Receptors, Calcitriol)
RN  - EC 3.1.21.- (endodeoxyribonuclease BsmI)
RN  - EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific)
RN  - FXC9231JVH (Calcitriol)
SB  - IM
MH  - Aged
MH  - Alleles
MH  - Bone and Bones/metabolism
MH  - Calcitriol/blood
MH  - Deoxyribonucleases, Type II Site-Specific/genetics
MH  - Exons/genetics
MH  - Female
MH  - Genotype
MH  - Graves Disease/*genetics
MH  - Humans
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Genetic/*genetics
MH  - Receptors, Calcitriol/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 2001/01/03 11:00
MHDA- 2001/03/03 10:01
CRDT- 2001/01/03 11:00
PHST- 2001/01/03 11:00 [pubmed]
PHST- 2001/03/03 10:01 [medline]
PHST- 2001/01/03 11:00 [entrez]
AID - 10.1210/jcem.85.12.7038 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2000 Dec;85(12):4639-43. doi: 10.1210/jcem.85.12.7038.