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Association between central serous chorioretinopathy susceptibility genes and choroidal parameters

  • Clinical Investigation
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Japanese Journal of Ophthalmology Aims and scope Submit manuscript

Abstract

Purpose

To evaluate the association between central serous chorioretinopathy (CSC) susceptibility genes and choroidal parameters in a large Japanese cohort.

Study design

Retrospective cohort study.

Methods

Of the 9850 individuals in the Nagahama study whose second visit was between 2013 and 2016, those with optical coherence tomography (OCT) images with enhanced depth imaging (EDI), axial length, and genome-wide single nucleotide polymorphism (SNP) genotyping data were included. We calculated subfoveal choroidal thickness (SFCT), choroidal vascularity index (CVI), normalized choroidal intensity (NCI), and vertical asymmetry of choroidal thickness. Genome-wide quantitative trait locus (QTL) analyses were performed for each parameter. We screened for four CSC susceptibility SNPs: CFH rs800292, TNFRSF10A rs13278062, GATA5 rs6061548, and VIPR2 rs3793217. Whenever an SNP was not included in the genotyping data after quality control, its proxy SNP was selected.

Results

In total, 4586 participants were evaluated. CFH rs800292 was significantly associated with SFCT (P < 0.001) and CVI (P < 0.001). VIPR2 rs3793217 was significantly associated with SFCT (P < 0.001) but not with CVI. Whereas, TNFRSF10A rs13254617 and GATA5 rs6061548 were not significantly associated with SFCT or CVI. None of these SNPs was associated with NCIEDI and asymmetry of choroidal thickness.

Conclusion

CFH, VIPR2, TNFRSF10A, and GATA5 showed different association patterns with choroidal parameters. Although the mechanism of CSC pathogenesis by choroidal changes is not fully understood, this finding suggests that each gene may be involved in different mechanisms of CSC development. Our genetic study provides a basis for understanding the role of CSC susceptibility genes.

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Acknowledgements

We are grateful to the Nagahama City Office and the nonprofit organization, Zeroji Club for their help in conducting the Nagahama Study. We would also like to thank Ms. Hatsue Hamanaka for her assistance with genotyping.

Author information

Authors and Affiliations

  1. Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 54 Kawahara, Shogoin, Sakyo, Kyoto, 606-8507, Japan

    Kazuya Morino, Masahiro Miyake, Takuro Kamei, Yuki Mori, Akihito Uji & Akitaka Tsujikawa

  2. Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan

    Kazuya Morino, Masahiro Miyake, Takuro Kamei, Takahisa Kawaguchi, Yuki Mori & Fumihiko Matsuda

  3. Department of Ophthalmology, Osaka Red-Cross Hospital, Osaka, Japan

    Yoshikatsu Hosoda

  4. Department of Ophthalmology and Visual Science, Kochi Medical School, Kochi University, Kochi, Japan

    Kenji Yamashiro

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  1. Kazuya Morino
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Corresponding author

Correspondence to Masahiro Miyake.

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Conflicts of interest

K. Morino, None; M. Miyake, Grants or Contracts (Novartis), Payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events (Bayer, Kowa, Alcon, HOYA, Novartis, AMO, Santen, Senju, Johnson & Johnson); T. Kamei, None; T. Kawaguchi, None; Y. Mori, Payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events (Santen); Y. Hosoda, None; A. Uji, Payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events (Canon, Bayer, Novartis, Santen, Senju, HOYA); K. Yamashiro, Payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events (Novartis, Bayer, Santen, Alcon, Senju, Kowa, Canon, Chugai); F. Matsuda, None; A. Tsujikawa, Grants or Contracts (Canon, Findex, Santen, Kowa, Pfizer, Senju, Wakamoto, Alcon, Novartis, Otsuka, Bayer, Nitten), Consulting fees (Senju, Bayer, Novartis, HOYA, Ellex, MSD, Allegan, Eisai, Daiich-Sankyo, Chugai, KYOWA HAKKO BIO), Payment or honoraria for lectures, presentations, speakers bureaus, manuscript writing or educational events (Bayer, Senju, Novartis, Santen, Alcon, AbbVie, AMO, Kowa, Canon, Otsuka, Wakamoto, NIDEK).

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Corresponding Author: Masahiro Miyake

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Morino, K., Miyake, M., Kamei, T. et al. Association between central serous chorioretinopathy susceptibility genes and choroidal parameters. Jpn J Ophthalmol 66, 504–510 (2022). https://doi.org/10.1007/s10384-022-00945-w

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  • DOI: https://doi.org/10.1007/s10384-022-00945-w

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