CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy

Proceedings of the National Academy of Sciences of the United States of America
Yoshikatsu HosodaK Yamashiro

Abstract

Central serous chorioretinopathy (CSC) is a common disease affecting younger people and may lead to vision loss. CSC shares phenotypic overlap with age-related macular degeneration (AMD). As recent studies have revealed a characteristic increase of choroidal thickness in CSC, we conducted a genome-wide association study on choroidal thickness in 3,418 individuals followed by TaqMan assays in 2,692 subjects, and we identified two susceptibility loci: CFH rs800292, an established AMD susceptibility polymorphism, and VIPR2 rs3793217 (P = 2.05 × 10-10 and 6.75 × 10-8, respectively). Case-control studies using patients with CSC confirmed associations between both polymorphisms and CSC (P = 5.27 × 10-5 and 5.14 × 10-5, respectively). The CFH rs800292 G allele is reportedly a risk allele for AMD, whereas the A allele conferred risk for thicker choroid and CSC development. This study not only shows that susceptibility genes for CSC could be discovered using choroidal thickness as a defining variable but also, deepens the understanding of differences between CSC and AMD pathophysiology.

References

Jun 1, 1967·The British Journal of Ophthalmology·L Lemke, A Jütte
May 1, 1996·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·J A Oosterhuis
Aug 26, 1998·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·P BernasconiA Thölen
Dec 21, 2000·Cardiovascular Research·R J Henning, D R Sawmiller
May 8, 2001·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·A C WeeninkJ A Oosterhuis
Jul 17, 2001·Acta Ophthalmologica Scandinavica·D Bujarborua
Nov 15, 2002·Survey of Ophthalmology·Evrydiki A BouzasConstantin J Pournaras
Mar 12, 2005·Science·Robert J KleinJosephine Hoh
Oct 20, 2005·The British Journal of Ophthalmology·M E J van VelthovenM D de Smet
Nov 24, 2005·Investigative Ophthalmology & Visual Science·Michael TittlLeopold Schmetterer
May 17, 2006·European Journal of Ophthalmology·L CotticelliM Romano
Jul 31, 2007·Acta Ophthalmologica·Maria WangMichael Larsen
Jun 25, 2010·Investigative Ophthalmology & Visual Science·Hisako HayashiNagahisa Yoshimura
Sep 27, 2012·Ophthalmology·Wen Bin WeiQi Sheng You
Feb 16, 2013·Survey of Ophthalmology·Benjamin NicholsonCatherine Meyerle
Jul 22, 2014·Retina·Mathieu LehmannFrancine Behar-Cohen
Aug 28, 2014·Retina·Claudine E Pang, K Bailey Freund
Jun 1, 2015·Progress in Retinal and Eye Research·Alejandra DaruichFrancine Behar-Cohen
Aug 26, 2015·Investigative Ophthalmology & Visual Science·Myrte B BreukinkEiko K de Jong
Aug 30, 2016·Nature Genetics·Sayantan DasChristian Fuchsberger
Oct 28, 2016·Nature Genetics·Po-Ru LohAlkes L Price

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Citations

May 1, 2019·Scientific Reports·Rosa L SchellevisAnneke I den Hollander
Mar 7, 2020·Database : the Journal of Biological Databases and Curation·Kwang Su JungMyungguen Chung
Apr 23, 2020·Japanese Journal of Ophthalmology·Yasuo Yanagi
Oct 3, 2020·Scientific Reports·Miho TagawaAkitaka Tsujikawa
Oct 11, 2020·The British Journal of Ophthalmology·Janice Marie Jordan-YuChui Ming Gemmy Cheung
Jul 19, 2019·Progress in Retinal and Eye Research·Thomas J van RijssenCamiel J F Boon
Jan 29, 2021·PloS One·Hidetaka MatsumotoHideo Akiyama
Dec 20, 2020·American Journal of Ophthalmology·Sungsoon HwangMingui Kong
May 15, 2020·Progress in Retinal and Eye Research·Rebecca KayeAndrew Lotery
Mar 16, 2021·Progress in Retinal and Eye Research·Elon H C van Dijk, Camiel J F Boon
Aug 9, 2019·Experimental Eye Research·Jérémie CanonicaFrancine Behar-Cohen
May 28, 2021·The British Journal of Ophthalmology·Zhen Ji ChenLi Jia Chen
Jul 20, 2021·Progress in Retinal and Eye Research·J BrinksC J F Boon
Jul 31, 2021·European Journal of Ophthalmology·Pradeep SagarShorya Vardhan Azad
Jul 29, 2021·Journal of the Chinese Medical Association : JCMA·Lung-Chi LeeChing-Long Chen

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Methods Mentioned

BETA
chip
genotyping
KLoSHA

Software Mentioned

R

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