PMID- 33643312
OWN - NLM
STAT- MEDLINE
DCOM- 20210702
LR  - 20210702
IS  - 1664-3224 (Electronic)
IS  - 1664-3224 (Linking)
VI  - 12
DP  - 2021
TI  - CFH I62V as a Putative Genetic Marker for Posner-Schlossman Syndrome.
PG  - 608723
LID - 10.3389/fimmu.2021.608723 [doi]
LID - 608723
AB  - Objective: Posner-Schlossman syndrome (PSS), also known as glaucomatocyclitic 
      crisis, is an ocular condition characterized by recurrent attacks of anterior 
      uveitis and raised intraocular pressure. Previous studies by our team and others 
      have identified the genetic association of complement pathway genes with uveitis 
      and glaucoma. This study aimed to investigate the complement genes in PSS 
      patients with the view of elucidating the genetic background of the disease. 
      Methods: A total of 331 subjects (56 PSS patients and 275 controls) were 
      recruited for this study. We selected 27 variants in six complement pathway genes 
      (SERPING1, C2, CFB, CFH, C3, and C5) and detected them using TaqMan single 
      nucleotide polymorphism (SNP) Genotyping Assays. Univariate SNP association 
      analysis, haplotype-based association analysis, gene-gene interaction analysis 
      among complement genes, and genotype-phenotype correlation analysis were 
      performed. Results: Among the 27 variants of six complement pathway genes, the 
      functional variant I62V (rs800292) at the CFH gene was found to be significantly 
      associated with PSS; there was a significant increase in the frequency of A 
      allele and AA homozygosity in PSS patients than in controls (P = 1.79 x 10(-4); 
      odds ratio (OR) 2.18, 95% CI: 1.44-3.29; P = 4.65 x 10(-4); OR 3.66, 95% CI: 
      1.70-7.85, respectively). The additive effect of CFH-rs800292 and 
      SERPING1-rs3824988 was identified with an OR of 12.50 (95% CI: 2.16-72.28). 
      Genotype-phenotype analysis indicated that the rs800292 AA genotype was 
      associated with a higher intraocular pressure and higher frequency of recurrence. 
      Unlike a high proportion of human leukocyte antigen (HLA)-B27 positivity in 
      anterior uveitis, only 3 in 56 (5.36%) PSS patients were HLA-B27 positive. In 
      addition, one haplotype block (GC) in the SERPING1 gene showed a nominal 
      association with PSS with an increased risk of 2.04 (P = 0.01; 95% CI: 
      1.18-3.53), but the P-value could not withstand the Bonferroni correction 
      (P(corr) > 0.05). Conclusion: This study revealed a genetic association of a CFH 
      variant with PSS as well as its clinical parameters, implying that the 
      alternative complement pathway might play an important role in the pathogenesis 
      of PSS. Further studies to enrich the understanding of the genetic background of 
      PSS and the role of the complement system in ocular inflammation are warranted.
CI  - Copyright (c) 2021 Yang, Sun, Meng, Qiu, Zeng, Ng, Jiang, Deng, Zeng, Wang and Luo.
FAU - Yang, Ming Ming
AU  - Yang MM
AD  - Department of Ophthalmology, Shenzhen People's Hospital, The Second Clinical 
      Medical College of Jinan University & The First Affiliated Hospital of Southern 
      University of Science and Technology, Shenzhen, China.
FAU - Sun, Hong Yan
AU  - Sun HY
AD  - Department of Ophthalmology, Shenzhen People's Hospital, The Second Clinical 
      Medical College of Jinan University & The First Affiliated Hospital of Southern 
      University of Science and Technology, Shenzhen, China.
FAU - Meng, Ting
AU  - Meng T
AD  - Department of Ophthalmology, Shenzhen People's Hospital, The Second Clinical 
      Medical College of Jinan University & The First Affiliated Hospital of Southern 
      University of Science and Technology, Shenzhen, China.
FAU - Qiu, Shan Hu
AU  - Qiu SH
AD  - Department of Endocrinology, Shenzhen People's Hospital, The Second Clinical 
      Medical College of Jinan University & The First Affiliated Hospital of Southern 
      University of Science and Technology, Shenzhen, China.
FAU - Zeng, Qi Qiao
AU  - Zeng QQ
AD  - Department of Ophthalmology, Shenzhen People's Hospital, The Second Clinical 
      Medical College of Jinan University & The First Affiliated Hospital of Southern 
      University of Science and Technology, Shenzhen, China.
FAU - Ng, Tsz Kin
AU  - Ng TK
AD  - Joint Shantou International Eye Center of Shantou University and The Chinese 
      University of Hong Kong, Shantou, China.
AD  - Department of Ophthalmology and Visual Sciences, The Chinese University of Hong 
      Kong, Hong Kong, China.
FAU - Jiang, Li
AU  - Jiang L
AD  - Department of Ophthalmology, Shenzhen People's Hospital, The Second Clinical 
      Medical College of Jinan University & The First Affiliated Hospital of Southern 
      University of Science and Technology, Shenzhen, China.
FAU - Deng, Ting Ming
AU  - Deng TM
AD  - Department of Ophthalmology, Shenzhen People's Hospital, The Second Clinical 
      Medical College of Jinan University & The First Affiliated Hospital of Southern 
      University of Science and Technology, Shenzhen, China.
FAU - Zeng, Ai Neng
AU  - Zeng AN
AD  - Department of Ophthalmology, Shenzhen People's Hospital, The Second Clinical 
      Medical College of Jinan University & The First Affiliated Hospital of Southern 
      University of Science and Technology, Shenzhen, China.
FAU - Wang, Jun
AU  - Wang J
AD  - Department of Endocrinology, Shenzhen People's Hospital, The Second Clinical 
      Medical College of Jinan University & The First Affiliated Hospital of Southern 
      University of Science and Technology, Shenzhen, China.
FAU - Luo, Xiao Ling
AU  - Luo XL
AD  - Department of Ophthalmology, Shenzhen People's Hospital, The Second Clinical 
      Medical College of Jinan University & The First Affiliated Hospital of Southern 
      University of Science and Technology, Shenzhen, China.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20210211
PL  - Switzerland
TA  - Front Immunol
JT  - Frontiers in immunology
JID - 101560960
RN  - 0 (CFH protein, human)
RN  - 0 (Genetic Markers)
RN  - 80295-65-4 (Complement Factor H)
SB  - IM
MH  - Adult
MH  - *Alleles
MH  - Case-Control Studies
MH  - Complement Factor H/genetics
MH  - Epistasis, Genetic
MH  - Eye Diseases, Hereditary/*diagnosis/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Genetic Association Studies
MH  - *Genetic Markers
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Male
MH  - Middle Aged
MH  - Odds Ratio
MH  - Phenotype
MH  - *Polymorphism, Single Nucleotide
PMC - PMC7904693
OTO - NOTNLM
OT  - complement factor H
OT  - complement system
OT  - genes
OT  - posner-schlossman syndrome (PSS)
OT  - single nucleotide polymorphisms
OT  - uveitis
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2021/03/02 06:00
MHDA- 2021/07/03 06:00
PMCR- 2021/01/01
CRDT- 2021/03/01 05:36
PHST- 2020/09/21 00:00 [received]
PHST- 2021/01/22 00:00 [accepted]
PHST- 2021/03/01 05:36 [entrez]
PHST- 2021/03/02 06:00 [pubmed]
PHST- 2021/07/03 06:00 [medline]
PHST- 2021/01/01 00:00 [pmc-release]
AID - 10.3389/fimmu.2021.608723 [doi]
PST - epublish
SO  - Front Immunol. 2021 Feb 11;12:608723. doi: 10.3389/fimmu.2021.608723. eCollection 
      2021.