PMID- 30146738
OWN - NLM
STAT- MEDLINE
DCOM- 20181211
LR  - 20221207
IS  - 1756-185X (Electronic)
IS  - 1756-1841 (Linking)
VI  - 21
IP  - 8
DP  - 2018 Aug
TI  - Targeted capture sequencing identifies novel genetic variations in Chinese 
      patients with idiopathic inflammatory myopathies.
PG  - 1619-1626
LID - 10.1111/1756-185X.13350 [doi]
AB  - OBJECTIVES: Previous association studies have identified genetic variants in the 
      human leukocyte antigen (HLA) complex as substantial risk factors for idiopathic 
      inflammatory myopathies (IIMs). However, a great number of genes are located in 
      the HLA region, and thus fine mapping is quite necessary. METHODS: Targeted 
      capture sequencing were performed on the whole HLA region in 42 IIM patients and 
      24 healthy controls. A microarray analysis was applied to analyze gene expression 
      profiles in additional 20 newly diagnosed IIM and five healthy controls. RESULTS: 
      The HLA region was confirmed to be associated with IIMs in Chinese patients. By 
      gene expression profiling and pathway analysis, several genes were identified as 
      candidates for IIM risk factors, including HLA-A, HLA-B, HLA-DRB5, HLA-DRB1, 
      HLA-DQA1, HLA-DQB1 and HLA-DQB2. Interestingly, p.Y107V of the HLA-DRB1 was 
      predicted to be a potential causal non-synonymous variation for IIMs that may 
      affect the antigen-binding groove of the HLA-II molecule. CONCLUSIONS: Our data 
      have revealed novel genetic variations in the HLA region of IIM patients and 
      provide new insight into the pathogenesis and diagnosis of IIMs.
CI  - (c) 2018 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons 
      Australia, Ltd.
FAU - Peng, Qing-Lin
AU  - Peng QL
AUID- ORCID: 0000-0002-1271-1729
AD  - Department of Rheumatology, Beijing Key Lab for Immune-Mediated Inflammatory 
      Diseases, China-Japan Friendship Hospital, Beijing, China.
FAU - Lin, Jin-Ming
AU  - Lin JM
AD  - CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of 
      Genomics, Chinese Academy of Sciences (CAS), Beijing, China.
FAU - Zhang, Yong-Biao
AU  - Zhang YB
AD  - Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang 
      University, Beijing, China.
FAU - Zhang, Xue-Zhi
AU  - Zhang XZ
AD  - Department of Rheumatology, Beijing Key Lab for Immune-Mediated Inflammatory 
      Diseases, China-Japan Friendship Hospital, Beijing, China.
FAU - Wang, Pan-Pan
AU  - Wang PP
AD  - CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of 
      Genomics, Chinese Academy of Sciences (CAS), Beijing, China.
FAU - Wu, Ting-Ting
AU  - Wu TT
AD  - CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of 
      Genomics, Chinese Academy of Sciences (CAS), Beijing, China.
FAU - Yu, Jun
AU  - Yu J
AD  - CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of 
      Genomics, Chinese Academy of Sciences (CAS), Beijing, China.
FAU - Dong, Xiao-Qun
AU  - Dong XQ
AD  - Alpert Medical School of Brown University, Providence, Rhode Island.
FAU - Gu, Ming-Liang
AU  - Gu ML
AD  - CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of 
      Genomics, Chinese Academy of Sciences (CAS), Beijing, China.
AD  - Joint Laboratory for Translational Medicine Research, Beijing Institute of 
      Genomics, Chinese Academy of Sciences & Liaocheng People's Hospital, Liaocheng, 
      China.
FAU - Wang, Guo-Chun
AU  - Wang GC
AD  - Department of Rheumatology, Beijing Key Lab for Immune-Mediated Inflammatory 
      Diseases, China-Japan Friendship Hospital, Beijing, China.
LA  - eng
PT  - Journal Article
PL  - England
TA  - Int J Rheum Dis
JT  - International journal of rheumatic diseases
JID - 101474930
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Adult
MH  - Asian People/genetics
MH  - Case-Control Studies
MH  - China/epidemiology
MH  - Female
MH  - Gene Expression Profiling/*methods
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease
MH  - *Genetic Variation
MH  - HLA Antigens/*genetics/immunology
MH  - *High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Myositis/diagnosis/ethnology/*genetics/immunology
MH  - *Oligonucleotide Array Sequence Analysis
MH  - Phenotype
MH  - Predictive Value of Tests
MH  - Risk Factors
MH  - Transcriptome
OTO - NOTNLM
OT  - dermatomyositis
OT  - gene polymorphism
OT  - human leukocyte antigen polymyositis
EDAT- 2018/08/28 06:00
MHDA- 2018/12/12 06:00
CRDT- 2018/08/28 06:00
PHST- 2017/10/26 00:00 [received]
PHST- 2018/06/18 00:00 [accepted]
PHST- 2018/08/28 06:00 [entrez]
PHST- 2018/08/28 06:00 [pubmed]
PHST- 2018/12/12 06:00 [medline]
AID - 10.1111/1756-185X.13350 [doi]
PST - ppublish
SO  - Int J Rheum Dis. 2018 Aug;21(8):1619-1626. doi: 10.1111/1756-185X.13350.