CFHR2-rs2986127 as a genetic protective marker for acute anterior uveitis in Chinese patients.
BACKGROUND
Complement factor H (CFH) related proteins (CFHRs) play important roles in complement activation pathways, whereas previous studies have only shown that CFH can affect the development of uveitis. In the present study, we investigated the potential associations between one of single-nucleotide polymorphisms in the CFHR2 gene with acute anterior uveitis (AAU).


METHODS
A total of 571 subjects, 283 patients diagnosed with AAU and 288 healthy adult controls, were recruited for this case-control study. CFHR2-rs2986127 was detected using Sequenom MassARRAY technology (Sequenom, San Diego, CA, USA).


RESULTS
The stratified analyses for AAU patients with ankylosing spondylitis (AS) revealed a reduced frequency of the A allele in CFHR2-rs2986127 compared to controls (p = 0.033, odds ratio = 0.563, 95% confidence interval = 330-0.960). Further stratified analyses revealed a similar significantly reduced frequency in male AAU patients with AS compared to male controls (p = 0.036, odds ratio = 0.514, 95% confidence interval = 0.274-0.965) and in AAU patients without posterior segment involvement compared to controls (p = 0.048).


CONCLUSIONS
The present study reveals an association between CFHR2-rs2986127 and AAU diagnosis, especially with respect to gender, AS status and other clinical signs, such as posterior segment involvement. Our results may further enrich the growing understanding of uveitis genetics, and raise the clinical diagnostic accuracy of this disease. Copyright © 2016 John Wiley & Sons, Ltd.
The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, The Eye Hospital of Wenzhou Medical University, Wenzhou, China.
Xiu-Feng
XF
Huang
The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, The Eye Hospital of Wenzhou Medical University, Wenzhou, China.
Yuqin
Y
Wang
The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, The Eye Hospital of Wenzhou Medical University, Wenzhou, China.
Fen-Fen
FF
Li
The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, The Eye Hospital of Wenzhou Medical University, Wenzhou, China.
Dan
D
Lin
The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, The Eye Hospital of Wenzhou Medical University, Wenzhou, China.
Ma-Li
ML
Dai
The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, The Eye Hospital of Wenzhou Medical University, Wenzhou, China.
Qing-Feng
QF
Wang
The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, The Eye Hospital of Wenzhou Medical University, Wenzhou, China.
Zi-Bing
ZB
Jin
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002681:China; D003180:Complement C3b Inactivator Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013167:Spondylitis, Ankylosing / Q000150:complications / Q000208:ethnology; D014606:Uveitis, Anterior / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
C586681:CFHR2 protein, human; D003180:Complement C3b Inactivator Proteins
CFHR2; acute anterior uveitis; association analysis; rs2986127; single-nucleotide polymorphisms