title: Association of CD59 and CFH polymorphisms with acute anterior uveitis in Chinese population.
abstract: PurposeCD59 complement regulator and complement factor H (CFH) have important roles in complement activation pathways, which are known to affect the development of uveitis. The present study was performed to investigate whether an association exists between CD59 and CFH genetic polymorphisms and acute anterior uveitis (AAU).MethodsA total of 600 individuals (300 patients diagnosed with AAU and 300 healthy controls) were recruited for this case-control study. Five single-nucleotide polymorphisms (SNPs) in CD59 (rs831626, rs12272807, rs831625, rs11585, and rs12576440) and CFH-rs1065489 were genotyped using Sequenom MassARRAY technology. Allele and genotype frequencies were statistically compared between patients and controls using χ2test. Analyses were stratified for gender, human leukocyte antigen (HLA)-B27, and ankylosing spondylitis (AS) status.ResultsNo significant association was found between any of the six polymorphisms and AAU. In HLA-B27-negative AAU patients, the frequencies of the G allele and GG homozygosity were lower in CD59-rs831626 when compared with controls (P=0.032). There were also significant decreases in the frequencies of T allele and TT homozygosity in CFH-rs1065489 in AAU patients with AS compared with controls (P=0.002). Furthermore, the frequencies of the T allele and TT homozygosity in CFH-rs1065489 were lower in the AAU male patients with AS compared with controls (P=0.015).ConclusionOur results revealed that SNPs CD59-rs831626 and CFH-rs1065489 were associated with the susceptibility of AAU. The influence on AAU could be gender specific and dependent on the HLA-B27 and AS status. No positive results were found in the overall group.
authors.affiliation: Division of Ophthalmic Genetics, The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Q F
authors.initials: QF
authors.lastname: Wang
authors.affiliation: Division of Ophthalmic Genetics, The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: X F
authors.initials: XF
authors.lastname: Huang
authors.affiliation: Division of Ophthalmic Genetics, The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Z L
authors.initials: ZL
authors.lastname: Zheng
authors.affiliation: Division of Ophthalmic Genetics, The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: M L
authors.initials: ML
authors.lastname: Dai
authors.affiliation: Division of Ophthalmic Genetics, The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: W J
authors.initials: WJ
authors.lastname: Cai
authors.affiliation: Department of Ophthalmology, Eye Hospital, The First Affiliated Hospital, Harbin Medical University, Harbin, China.
authors.forename: M M
authors.initials: MM
authors.lastname: Yang
authors.affiliation: Division of Ophthalmic Genetics, The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Z B
authors.initials: ZB
authors.lastname: Jin
authors.affiliation: Division of Ophthalmic Genetics, The Eye Hospital of Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China.
authors.forename: Y Q
authors.initials: YQ
authors.lastname: Wang
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics; D018957:CD59 Antigens / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002681:China / Q000453:epidemiology; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014606:Uveitis, Anterior / Q000235:genetics*
chemical_list: D018957:CD59 Antigens; C493495:CFH protein, human; C051590:CD59 protein, human; D017242:Complement Factor H