PMID- 24776925
OWN - NLM
STAT- MEDLINE
DCOM- 20150601
LR  - 20221207
IS  - 1932-6203 (Electronic)
IS  - 1932-6203 (Linking)
VI  - 9
IP  - 4
DP  - 2014
TI  - Whole-exome sequencing for the identification of susceptibility genes of 
      Kashin-Beck disease.
PG  - e92298
LID - 10.1371/journal.pone.0092298 [doi]
LID - e92298
AB  - OBJECTIVE: To identify and investigate the susceptibility genes of Kashin-Beck 
      disease (KBD) in Chinese population. METHODS: Whole-exome capturing and 
      sequencing technology was used for the detection of genetic variations in 19 
      individuals from six families with high incidence of KBD. A total of 44 
      polymorphisms from 41 genes were genotyped from a total of 144 cases and 144 
      controls by using MassARRAY under the standard protocol from Sequenom. 
      Association was applied on the data by using PLINK1.07. RESULTS: In the 
      sequencing stage, each sample showed approximately 70-fold coverage, thus 
      covering more than 99% of the target regions. Among the single nucleotide 
      polymorphisms (SNPs) used in the transmission disequilibrium test, 108 had a 
      p-value of <0.01, whereas 1056 had a p-value of <0.05. Kyoto Encyclopedia of 
      Genes and Genomes(KEGG) pathway analysis indicates that these SNPs focus on three 
      major pathways: regulation of actin cytoskeleton, focal adhesion, and metabolic 
      pathways. In the validation stage, single locus effects revealed that two of 
      these polymorphisms (rs7745040 and rs9275295) in the human leukocyte antigen 
      (HLA)-DRB1 gene and one polymorphism (rs9473132) in CD2-associated protein 
      (CD2AP) gene have a significant statistical association with KBD. CONCLUSIONS: 
      HLA-DRB1 and CD2AP gene were identified to be among the susceptibility genes of 
      KBD, thus supporting the role of the autoimmune response in KBD and the 
      possibility of shared etiology between osteoarthritis, rheumatoid arthritis, and 
      KBD.
FAU - Yang, Zhenxing
AU  - Yang Z
AD  - Psychiatric Laboratory & Department of Psychiatry, West China Hospital, Sichuan 
      University, Chengdu, Sichuan, P R China; State Key Laboratory of Biotherapy, West 
      China Hospital, Sichuan University, Chengdu, Sichuan, P R China.
FAU - Xu, Yu
AU  - Xu Y
AD  - BGI-Shenzhen, Shenzhen, Guangdong, P R China.
FAU - Luo, Hongrong
AU  - Luo H
AD  - Psychiatric Laboratory & Department of Psychiatry, West China Hospital, Sichuan 
      University, Chengdu, Sichuan, P R China; State Key Laboratory of Biotherapy, West 
      China Hospital, Sichuan University, Chengdu, Sichuan, P R China.
FAU - Ma, Xiaohong
AU  - Ma X
AD  - Psychiatric Laboratory & Department of Psychiatry, West China Hospital, Sichuan 
      University, Chengdu, Sichuan, P R China; State Key Laboratory of Biotherapy, West 
      China Hospital, Sichuan University, Chengdu, Sichuan, P R China.
FAU - Wang, Qiang
AU  - Wang Q
AD  - Psychiatric Laboratory & Department of Psychiatry, West China Hospital, Sichuan 
      University, Chengdu, Sichuan, P R China; State Key Laboratory of Biotherapy, West 
      China Hospital, Sichuan University, Chengdu, Sichuan, P R China.
FAU - Wang, Yingcheng
AU  - Wang Y
AD  - Psychiatric Laboratory & Department of Psychiatry, West China Hospital, Sichuan 
      University, Chengdu, Sichuan, P R China; State Key Laboratory of Biotherapy, West 
      China Hospital, Sichuan University, Chengdu, Sichuan, P R China.
FAU - Deng, Wei
AU  - Deng W
AD  - Psychiatric Laboratory & Department of Psychiatry, West China Hospital, Sichuan 
      University, Chengdu, Sichuan, P R China; State Key Laboratory of Biotherapy, West 
      China Hospital, Sichuan University, Chengdu, Sichuan, P R China.
FAU - Jiang, Tao
AU  - Jiang T
AD  - BGI-Shenzhen, Shenzhen, Guangdong, P R China.
FAU - Sun, Guangqing
AU  - Sun G
AD  - BGI-Shenzhen, Shenzhen, Guangdong, P R China.
FAU - He, Tingting
AU  - He T
AD  - BGI-Shenzhen, Shenzhen, Guangdong, P R China.
FAU - Hu, Jingchu
AU  - Hu J
AD  - BGI-Shenzhen, Shenzhen, Guangdong, P R China.
FAU - Li, Yingrui
AU  - Li Y
AD  - BGI-Shenzhen, Shenzhen, Guangdong, P R China.
FAU - Wang, Jun
AU  - Wang J
AD  - BGI-Shenzhen, Shenzhen, Guangdong, P R China.
FAU - Li, Tao
AU  - Li T
AD  - Psychiatric Laboratory & Department of Psychiatry, West China Hospital, Sichuan 
      University, Chengdu, Sichuan, P R China; State Key Laboratory of Biotherapy, West 
      China Hospital, Sichuan University, Chengdu, Sichuan, P R China.
FAU - Hu, Xun
AU  - Hu X
AD  - State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 
      Chengdu, Sichuan, P R China; Biobank Center, West China Hospital, Sichuan 
      University, Chengdu, Sichuan, P R China.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140428
PL  - United States
TA  - PLoS One
JT  - PloS one
JID - 101285081
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Asian People/genetics
MH  - Case-Control Studies
MH  - Exome/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genotyping Techniques
MH  - Humans
MH  - Kashin-Beck Disease/*genetics
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Genetic
MH  - *Sequence Analysis
MH  - Young Adult
PMC - PMC4002427
COIS- Competing Interests: The authors have declared that no competing interests exist.
EDAT- 2014/04/30 06:00
MHDA- 2015/06/02 06:00
PMCR- 2014/04/28
CRDT- 2014/04/30 06:00
PHST- 2013/09/30 00:00 [received]
PHST- 2014/02/20 00:00 [accepted]
PHST- 2014/04/30 06:00 [entrez]
PHST- 2014/04/30 06:00 [pubmed]
PHST- 2015/06/02 06:00 [medline]
PHST- 2014/04/28 00:00 [pmc-release]
AID - PONE-D-13-40226 [pii]
AID - 10.1371/journal.pone.0092298 [doi]
PST - epublish
SO  - PLoS One. 2014 Apr 28;9(4):e92298. doi: 10.1371/journal.pone.0092298. eCollection 
      2014.