PMID- 25075123
OWN - NLM
STAT- MEDLINE
DCOM- 20150304
LR  - 20221207
IS  - 1468-2079 (Electronic)
IS  - 0007-1161 (Linking)
VI  - 98
IP  - 11
DP  - 2014 Nov
TI  - CFI-rs7356506 is a genetic protective factor for acute anterior uveitis in 
      Chinese patients.
PG  - 1592-6
LID - 10.1136/bjophthalmol-2014-305296 [doi]
AB  - BACKGROUND: Complement Factor I (CFI) and the CD46 complement regulator (CD46) 
      play an important role in the complement activation pathways, which is known to 
      affect the development of uveitis. The present study was performed to investigate 
      the association of the CFI and CD46 genes with acute anterior uveitis (AAU). 
      METHODS: A total of 600 subjects (300 patients with AAU and 300 healthy controls) 
      were recruited for this case-control study. Six CFI single nucleotide 
      polymorphisms (SNP) (rs7356506, rs10029485, rs11726949, rs12512308, rs7438961, 
      rs998538) and four CD46 SNPs (rs12138764, rs2466571, rs2796278, rs7545126) were 
      genotyped using Sequenom MassARRAY technology. Allele and genotype frequencies 
      were compared between patients and controls using the chi(2) test. Analyses were 
      stratified for gender, human leukocyte antigen (HLA)-B27, and ankylosing 
      spondylitis status. RESULTS: Rs7356506 in the CFI gene was found to be protective 
      against AAU. There was a significant increase in the frequency of the A allele 
      (p=0.003, pc=0.03, OR=0.684, CI 0.534 to 0.876) and AA homozygosity (p=0.004, 
      pc=0.04, OR=0.624, CI 0.452 to 0.862) in AAU patients as compared to controls. 
      Stratified analysis, according to gender and HLA-B27 status for AAU, also 
      revealed the association with CFI-rs7356506. None of the tested SNPs of CD46 were 
      associated with AAU. CONCLUSIONS: This study has revealed a significant 
      association between AAU and CFI-rs7356506, suggesting that CFI is involved in the 
      pathogenesis of AAU, and that its influence on AAU may differ depending on gender 
      and HLA-B27 status.
CI  - Published by the BMJ Publishing Group Limited. For permission to use (where not 
      already granted under a licence) please go to 
      http://group.bmj.com/group/rights-licensing/permissions.
FAU - Wang, Yuqin
AU  - Wang Y
AD  - The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation 
      Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
FAU - Huang, Xiu-Feng
AU  - Huang XF
AD  - The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation 
      Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
FAU - Yang, Ming-Ming
AU  - Yang MM
AD  - Eye Hospital, The First Affiliated Hospital, Harbin Medical University, Harbin, 
      China Department of Ophthalmology & Visual Sciences, The Chinese University of 
      Hong Kong, Hong Kong, Hong Kong.
FAU - Cai, Wei-Jun
AU  - Cai WJ
AD  - The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation 
      Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
FAU - Zheng, Mei-Qin
AU  - Zheng MQ
AD  - The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation 
      Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
FAU - Mao, Guangyun
AU  - Mao G
AD  - The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation 
      Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China 
      School of Environmental Science & Public Health, Wenzhou Medical University, 
      Wenzhou, China The Johns Hopkins Bloomberg School of Public Health, Baltimore, 
      Maryland, USA.
FAU - Pang, Chi-Pui
AU  - Pang CP
AD  - Department of Ophthalmology & Visual Sciences, The Chinese University of Hong 
      Kong, Hong Kong, Hong Kong.
FAU - Jin, Zi-Bing
AU  - Jin ZB
AD  - The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation 
      Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140729
PL  - England
TA  - Br J Ophthalmol
JT  - The British journal of ophthalmology
JID - 0421041
RN  - 0 (CD46 protein, human)
RN  - 0 (Membrane Cofactor Protein)
RN  - EC 3.4.21.45 (CFI protein, human)
RN  - EC 3.4.21.45 (Complement Factor I)
SB  - IM
MH  - Acute Disease
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Asian People/genetics
MH  - Case-Control Studies
MH  - Child
MH  - China
MH  - Complement Factor I/*genetics
MH  - Female
MH  - Genotyping Techniques
MH  - Humans
MH  - Male
MH  - Membrane Cofactor Protein/genetics
MH  - Middle Aged
MH  - *Polymorphism, Single Nucleotide
MH  - Uveitis, Anterior/ethnology/*genetics/*prevention & control
OTO - NOTNLM
OT  - Genetics
OT  - Immunology
EDAT- 2014/07/31 06:00
MHDA- 2015/03/05 06:00
CRDT- 2014/07/31 06:00
PHST- 2014/07/31 06:00 [entrez]
PHST- 2014/07/31 06:00 [pubmed]
PHST- 2015/03/05 06:00 [medline]
AID - bjophthalmol-2014-305296 [pii]
AID - 10.1136/bjophthalmol-2014-305296 [doi]
PST - ppublish
SO  - Br J Ophthalmol. 2014 Nov;98(11):1592-6. doi: 10.1136/bjophthalmol-2014-305296. 
      Epub 2014 Jul 29.