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Genetic associations of central serous chorioretinopathy: a systematic review and meta-analysis
  1. Zhen Ji Chen1,
  2. Shi Yao Lu1,
  3. Shi Song Rong2,
  4. Mary Ho1,3,
  5. Danny Siu-Chun Ng1,
  6. Haoyu Chen4,
  7. Bo Gong5,
  8. Jason C Yam1,
  9. Alvin L Young1,3,
  10. Marten Brelen1,3,
  11. Clement C Tham1,
  12. Chi Pui Pang1,4,
  13. Li Jia Chen1,3
  1. 1Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China
  2. 2Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA
  3. 3Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China
  4. 4Joint Shantou International Eye Center, Shantou University, Shantou, China
  5. 5Sichuan Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chengdu, China
  1. Correspondence to Dr Li Jia Chen, Department of Ophthalmology and Visual Science, The Chinese University of Hong Kong, Hong Kong, China; lijia_chen{at}


Aims To identify single-nucleotide polymorphisms (SNPs) associated with central serous chorioretinopathy (CSCR) by a systematic review and meta-analysis, and to compare the association profiles between CSCR, neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV).

Methods We searched the EMBASE, PubMed and Web of Science for genetic studies of CSCR from the starting dates of the databases to 12 September 2020. We then performed meta-analyses on all SNPs reported by more than two studies and calculated the pooled OR and 95% CIs. We also conducted sensitivity analysis and adopted the funnel plot to assess potential publication bias.

Results Totally 415 publications were reviewed, among them 10 were eligible for meta-analysis. We found 10 SNPs that have been reported at least twice. Meta-analysis and sensitivity analysis confirmed significant associations between CSCR and six SNPs in three genes, namely age-related maculopathy susceptibility 2 (ARMS2) (rs10490924, OR=1.37; p=0.00064), complement factor H (CFH) (rs800292, OR=1.44; p=7.80×10−5; rs1061170, OR=1.34; p=0.0028; rs1329428, OR=1.40; p=0.012; and rs2284664, OR=1.36; p=0.0089) and tumour necrosis factor receptor superfamily, member 10a (TNFRSF10A) (rs13278062, OR=1.34; p=1.44×10−15). Among them, only TNFRSF10A rs13278062 showed the same trend of effect on CSCR, nAMD and PCV, while the SNPs in ARMS2 and CFH showed opposite trends in the SNP associations.

Conclusions This study confirmed the associations of ARMS2, CFH and TNFRSF10A with CSCR, and revealed that ARMS2, CFH and TNFRSF10A may affect different phenotypic expressions of CSCR, nAMD and PCV.

  • choroid
  • genetics
  • retina
  • macula
  • neovascularisation

Data availability statement

All data relevant to the study are included in the article or uploaded as supplemental information. All the data included in our study are from published studies which can be searched in PubMed, Embase and Web of science.

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Data availability statement

All data relevant to the study are included in the article or uploaded as supplemental information. All the data included in our study are from published studies which can be searched in PubMed, Embase and Web of science.

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  • ZJC and SYL contributed equally.

  • Contributors ZC and SL performed the literature searching, data analysis, data interpretation and manuscript drafting. SSR and MH conducted literature checking, data quality control, data interpretation and revised the manuscript. DS-CN, HC, BG, JCSY, ALY and MB interpreted data and revised the manuscript critically for important intellectual content. LJC, CCT and C-PP proposed the idea, designed the study and manuscript structure and revised it. All authors agreed to be accountable for all aspects of the work. All authors approved the submitted version.

  • Funding This work was supported in part by a research grant from the Department of Science and Technology of Sichuan Province (2020ZYD035; BG); a Direct Grant from The Chinese University of Hong Kong (4054560; LJC), and the Endowment Fund for Lim Por-Yen Eye Genetics Research Centre, Hong Kong.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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