PMID- 23620109
OWN - NLM
STAT- MEDLINE
DCOM- 20131112
LR  - 20221207
IS  - 1436-2023 (Electronic)
IS  - 0949-2658 (Linking)
VI  - 18
IP  - 4
DP  - 2013 Jul
TI  - An exon polymorphism of programmed cell death 1 gene is associated with both the 
      susceptibility and thoracolumbar kyphosis severity of ankylosing spondylitis in a 
      Chinese Han population.
PG  - 514-8
LID - 10.1007/s00776-013-0385-2 [doi]
AB  - BACKGROUND: Although human leukocyte antigen (HLA)-B27 gene is the major 
      susceptible gene associated with ankylosing spondylitis (AS), it has been 
      recognized that non-HLA-B27 genes also play key roles in the development of AS. 
      The purpose of this study is to investigate whether a single nucleotide 
      polymorphism (SNP) in the exon region of the programmed cell death 1 (PDCD-1) 
      gene is associated with the susceptibility or the thoracolumbar kyphosis severity 
      of AS in a Chinese Han population. METHODS: A total of 255 AS patients between 
      January 2008 and October 2012 were recruited in this study. Two hundred and three 
      healthy patients were recruited as normal controls. According to the severity of 
      thoracolumbar kyphosis, the AS patients were further divided into group A 
      (patients with kyphosis <70 degrees , n = 135) and group B (patients with kyphosis >/=70 degrees , 
      n = 120). One exon polymorphism, rs2227982 (C/T) of PDCD-1 gene, was selected for 
      analysis. Genotyping was performed by TaqMan probe assays in all the subjects. 
      RESULTS: There were significant differences of genotype distributions of 
      rs2227982 between AS patients and normal controls. The frequency of the T allele 
      was significantly higher in AS patients when compared with normal controls. The 
      frequency of the T allele in group B was significantly higher than that in group 
      A. Carriage of the TT genotype increased the risk of severe thoracolumbar 
      kyphosis 1.9-fold in AS patients. CONCLUSIONS: Our study confirms a significant 
      association between the SNP rs2227982 of PDCD-1 gene and the susceptibility of AS 
      in a Chinese Han population. Moreover, the TT genotype is suggested to be 
      associated with the severity of thoracolumbar kyphosis secondary to AS.
FAU - Qian, Bang-ping
AU  - Qian BP
AD  - Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing 
      University Medical School, Zhongshan Road 321, Nanjing 210008, China.
FAU - Wang, Xin-qiang
AU  - Wang XQ
FAU - Qiu, Yong
AU  - Qiu Y
FAU - Jiang, Hua
AU  - Jiang H
FAU - Ji, Ming-liang
AU  - Ji ML
FAU - Jiang, Jun
AU  - Jiang J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130426
PL  - Japan
TA  - J Orthop Sci
JT  - Journal of orthopaedic science : official journal of the Japanese Orthopaedic 
      Association
JID - 9604934
RN  - 0 (Programmed Cell Death 1 Receptor)
SB  - IM
MH  - Adult
MH  - Asian People/genetics
MH  - Exons/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - Kyphosis/etiology/*genetics
MH  - Lumbar Vertebrae/*abnormalities
MH  - Male
MH  - Middle Aged
MH  - *Polymorphism, Single Nucleotide
MH  - Programmed Cell Death 1 Receptor/*genetics
MH  - Spondylitis, Ankylosing/complications/*genetics
MH  - Thoracic Vertebrae/*abnormalities
MH  - Young Adult
EDAT- 2013/04/27 06:00
MHDA- 2013/11/13 06:00
CRDT- 2013/04/27 06:00
PHST- 2012/12/28 00:00 [received]
PHST- 2013/03/12 00:00 [accepted]
PHST- 2013/04/27 06:00 [entrez]
PHST- 2013/04/27 06:00 [pubmed]
PHST- 2013/11/13 06:00 [medline]
AID - S0949-2658(15)30442-5 [pii]
AID - 10.1007/s00776-013-0385-2 [doi]
PST - ppublish
SO  - J Orthop Sci. 2013 Jul;18(4):514-8. doi: 10.1007/s00776-013-0385-2. Epub 2013 Apr 
      26.