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Feng L, Chen S, Dai H, et al. Discovery of Novel Genetic Risk Loci for Acute Central Serous Chorioretinopathy and Genetic Pleiotropic Effect With Age-Related Macular Degeneration. Front Cell Dev Biol. 2021;9:696885doi: 10.3389/fcell.2021.696885.
Feng, L., Chen, S., Dai, H., Dorajoo, R., Liu, J., Kong, J., Yin, X., & Ren, Y. (2021). Discovery of Novel Genetic Risk Loci for Acute Central Serous Chorioretinopathy and Genetic Pleiotropic Effect With Age-Related Macular Degeneration. Frontiers in cell and developmental biology, 9696885. https://doi.org/10.3389/fcell.2021.696885
Feng, Lei, et al. "Discovery of Novel Genetic Risk Loci for Acute Central Serous Chorioretinopathy and Genetic Pleiotropic Effect With Age-Related Macular Degeneration." Frontiers in cell and developmental biology vol. 9 (2021): 696885. doi: https://doi.org/10.3389/fcell.2021.696885
Feng L, Chen S, Dai H, Dorajoo R, Liu J, Kong J, Yin X, Ren Y. Discovery of Novel Genetic Risk Loci for Acute Central Serous Chorioretinopathy and Genetic Pleiotropic Effect With Age-Related Macular Degeneration. Front Cell Dev Biol. 2021 Aug 20;9:696885. doi: 10.3389/fcell.2021.696885. eCollection 2021. PMID: 34490249; PMCID: PMC8417822.
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Front Cell Dev Biol. 2021 Aug 20;9:696885. doi: 10.3389/fcell.2021.696885. eCollection 2021.

Discovery of Novel Genetic Risk Loci for Acute Central Serous Chorioretinopathy and Genetic Pleiotropic Effect With Age-Related Macular Degeneration.

Frontiers in cell and developmental biology

Lei Feng, Si Chen, Huatuo Dai, Rajkumar Dorajoo, Jianjun Liu, Jinfeng Kong, Xianyong Yin, Yunqing Ren

Affiliations

  1. Eye Center, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.
  2. Department of Ophthalmology, Jinshan Branch of Shanghai Sixth People's Hospital, Shanghai, China.
  3. Department of Dermatology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
  4. Department of Dermatology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.
  5. Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore.
  6. Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  7. Department of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, United States.

PMID: 34490249 PMCID: PMC8417822 DOI: 10.3389/fcell.2021.696885

Abstract

BACKGROUND: Central serous chorioretinopathy (CSC) is a severe and heterogeneous chorioretinal disorder. Shared clinical manifestations between CSC and age-related macular degeneration (AMD) and the confirmation of CFH as genetic risk locus for both CSC and AMD suggest possible common pathophysiologic mechanisms between two diseases.

METHODS: To advance the understanding of genetic susceptibility of CSC and further investigate genetic pleiotropy between CSC and AMD, we performed genetic association analysis of 38 AMD-associated single nucleotide polymorphisms (SNPs) in a Chinese CSC cohort, consisting of 464 patients and 548 matched healthy controls.

RESULTS: Twelve SNPs were found to be associated with CSC at nominal significance (

CONCLUSION: By discovering two novel genetic risk loci and revealing significant genetic pleiotropic effect between CSC and AMD, the current study has provided novel insights into the role of genetic composition in the pathogenesis of CSC.

Copyright © 2021 Feng, Chen, Dai, Dorajoo, Liu, Kong, Yin and Ren.

Keywords: age-related macular degeneration; association; central serous chorioretinopathy; gene; pleiotropic effect; risk loci

Conflict of interest statement

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.

References

  1. Prog Retin Eye Res. 2015 Sep;48:82-118 - PubMed
  2. Clin Exp Ophthalmol. 2013 Mar;41(2):201-14 - PubMed
  3. Gigascience. 2015 Feb 25;4:7 - PubMed
  4. Invest Ophthalmol Vis Sci. 2015 Aug;56(9):5608-13 - PubMed
  5. Invest Ophthalmol Vis Sci. 2018 Nov 1;59(13):5542-5547 - PubMed
  6. Arch Ophthalmol. 1994 Aug;112(8):1057-62 - PubMed
  7. Nat Genet. 2018 Jul;50(7):956-967 - PubMed
  8. Br J Ophthalmol. 2019 Jun;103(6):725-729 - PubMed
  9. Acta Ophthalmol. 2008 Mar;86(2):126-45 - PubMed
  10. JAMA Ophthalmol. 2017 May 1;135(5):446-451 - PubMed
  11. Ann Acad Med Singap. 2006 Feb;35(2):77-9 - PubMed
  12. Ophthalmology. 2014 May;121(5):1067-72 - PubMed
  13. Eye (Lond). 2021 May 11;: - PubMed
  14. Ophthalmologica. 2001 May-Jun;215(3):183-7 - PubMed
  15. J Clin Med. 2021 Mar 05;10(5): - PubMed
  16. Ophthalmology. 2016 Jul;123(7):1541-52 - PubMed
  17. Am J Hum Genet. 2005 Jul;77(1):149-53 - PubMed
  18. Graefes Arch Clin Exp Ophthalmol. 1996 May;234(5):337-41 - PubMed
  19. Hum Mutat. 2014 Jul;35(7):859-67 - PubMed
  20. Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7395-400 - PubMed
  21. Nat Genet. 2016 Feb;48(2):134-43 - PubMed
  22. Nat Genet. 2011 Sep 11;43(10):1001-4 - PubMed
  23. Nat Genet. 2013 Apr;45(4):433-9, 439e1-2 - PubMed
  24. Retina. 2017 Oct;37(10):1905-1915 - PubMed
  25. Retina. 2009 Nov-Dec;29(10):1469-73 - PubMed
  26. Proc Natl Acad Sci U S A. 2018 Jun 12;115(24):6261-6266 - PubMed
  27. Nat Commun. 2015 Jan 28;6:6063 - PubMed
  28. Ophthalmology. 2008 Jan;115(1):169-73 - PubMed
  29. Nat Commun. 2017 Nov 28;8(1):1826 - PubMed
  30. Invest Ophthalmol Vis Sci. 2003 Sep;44(9):3947-51 - PubMed
  31. Genes Immun. 2010 Dec;11(8):609-21 - PubMed
  32. JAMA Ophthalmol. 2018 Oct 1;136(10):1128-1136 - PubMed
  33. Acta Ophthalmol. 2021 Mar;99(2):e222-e231 - PubMed
  34. Retina. 2019 Dec;39(12):2303-2310 - PubMed
  35. Ophthalmology. 2015 Mar;122(3):562-70 - PubMed
  36. Commun Biol. 2019 Dec 12;2:468 - PubMed
  37. J Physiol Pharmacol. 2020 Apr;71(2): - PubMed
  38. PLoS One. 2013 Jun 24;8(6):e66858 - PubMed
  39. J Natl Med Assoc. 2003 Jul;95(7):553-9 - PubMed
  40. Hum Mol Genet. 2011 Sep 15;20(18):3699-709 - PubMed

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