PMID- 23966370
OWN - NLM
STAT- MEDLINE
DCOM- 20131210
LR  - 20171116
IS  - 1468-2079 (Electronic)
IS  - 0007-1161 (Linking)
VI  - 97
IP  - 11
DP  - 2013 Nov
TI  - Association of CFH and SERPING1 polymorphisms with anterior uveitis.
PG  - 1475-80
LID - 10.1136/bjophthalmol-2013-303679 [doi]
AB  - AIMS: To investigate the association of the complement factor H (CFH) and 
      complement component 1 inhibitor (SERPING1) genes with anterior uveitis (AU). 
      METHODS: A total of 406 subjects (98 patients with AU and 308 controls) were 
      recruited for this study. Two CFH polymorphisms (rs3753394 and rs1065489) and two 
      SERPING1 polymorphisms (rs1005511 and rs3824988) were genotyped using TaqMan 
      genotyping assays. Analyses were stratified for gender and human leukocyte 
      antigen (HLA)-B27 status. Correlations of the genotypes with multiple clinical 
      features were also evaluated. RESULTS: No significant association was found 
      between any of the four polymorphisms and AU after multiple testing corrections. 
      However, stratified analyses showed that there were significant increases in the 
      frequencies of T allele and TT homozygosity for CFH-rs1065489 in female patients 
      compared with that of controls (pcorr=0.004 and pcorr=0.012 respectively). In 
      addition, CFH-rs1065489 was also associated with AU in patients who were HLA-B27 
      positive. No significant association with AU was found for the other three single 
      nucleotide polymorphisms (SNPs), even stratified by gender or HLA-B27 status. 
      Genotype-phenotype analyses found that CFH-rs1065489 TT genotype was associated 
      with higher uveitis recurrence frequency. No correlation was found between 
      CFH-rs1065489 and other clinical features. CONCLUSIONS: This study revealed an 
      association of CFH-rs1065489 with AU as well as uveitis recurrence frequency. The 
      influence on AU could be gender specific and dependent on HLA-B27 status. Our 
      results also suggested that SERPING1 does not play a significant role in the 
      development of AU.
FAU - Yang, Ming-ming
AU  - Yang MM
AD  - Department of Ophthalmology and Visual Sciences, The Chinese University of Hong 
      Kong, , Hong Kong, China.
FAU - Lai, Timothy Y Y
AU  - Lai TY
FAU - Tam, Pancy O S
AU  - Tam PO
FAU - Chiang, Sylvia W Y
AU  - Chiang SW
FAU - Ng, Tsz Kin
AU  - Ng TK
FAU - Rong, Shi Song
AU  - Rong SS
FAU - Pang, Chi Pui
AU  - Pang CP
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130821
PL  - England
TA  - Br J Ophthalmol
JT  - The British journal of ophthalmology
JID - 0421041
RN  - 0 (Complement C1 Inactivator Proteins)
RN  - 0 (Complement C1 Inhibitor Protein)
RN  - 0 (SERPING1 protein, human)
RN  - 80295-65-4 (Complement Factor H)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Alleles
MH  - Complement C1 Inactivator Proteins/*genetics/metabolism
MH  - Complement C1 Inhibitor Protein
MH  - Complement Factor H/*genetics/metabolism
MH  - DNA/*genetics
MH  - Female
MH  - Gene Frequency
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Polymorphism, Genetic
MH  - Uveitis, Anterior/*genetics/metabolism
MH  - Young Adult
OTO - NOTNLM
OT  - Genetics
OT  - Immunology
OT  - Inflammation
EDAT- 2013/08/24 06:00
MHDA- 2013/12/16 06:00
CRDT- 2013/08/23 06:00
PHST- 2013/08/23 06:00 [entrez]
PHST- 2013/08/24 06:00 [pubmed]
PHST- 2013/12/16 06:00 [medline]
AID - bjophthalmol-2013-303679 [pii]
AID - 10.1136/bjophthalmol-2013-303679 [doi]
PST - ppublish
SO  - Br J Ophthalmol. 2013 Nov;97(11):1475-80. doi: 10.1136/bjophthalmol-2013-303679. 
      Epub 2013 Aug 21.