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Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.

ABSTRACT: The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CSC), suggesting the importance of elucidating the CSC pathogenesis. Our large genome-wide association study followed by validation studies in three independent Japanese and European cohorts, consisting of 1546 CSC samples and 13,029 controls, identified two novel CSC susceptibility loci: TNFRSF10A-LOC389641 and near GATA5 (rs13278062, odds ratio?=?1.35, P?=?1.26?×?10-13; rs6061548, odds ratio?=?1.63, P?=?5.36?×?10-15). A T allele at TNFRSF10A-LOC389641 rs13278062, a risk allele for CSC, is known to be a risk allele for AMD. This study not only identified new susceptibility genes for CSC, but also improves the understanding of the pathogenesis of AMD.

SUBMITTER: Hosoda Y

PROVIDER: S-EPMC6908630 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.

Hosoda Yoshikatsu Y Miyake Masahiro M Schellevis Rosa L RL Boon Camiel J F CJF Hoyng Carel B CB Miki Akiko A Meguro Akira A Sakurada Yoichi Y Yoneyama Seigo S Takasago Yukari Y Hata Masayuki M Muraoka Yuki Y Nakanishi Hideo H Oishi Akio A Ooto Sotaro S Tamura Hiroshi H Uji Akihito A Miyata Manabu M Takahashi Ayako A Ueda-Arakawa Naoko N Tajima Atsushi A Sato Takehiro T Mizuki Nobuhisa N Shiragami Chieko C Iida Tomohiro T Khor Chiea Chuen CC Wong Tien Yin TY Yamada Ryo R Honda Shigeru S de Jong Eiko K EK Hollander Anneke I den AID Matsuda Fumihiko F Yamashiro Kenji K Tsujikawa Akitaka A

Communications biology 20191212

The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CSC), suggesting the importance of elucidating the CSC pathogenesis. Our large genome-wide association study followed by validation studies in three independent Japanese and European cohorts, consisting of 1546 CSC samples and 13,029 controls, identifi ...[more]

PMID: 31872073

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Project description:BackgroundMineralocorticoid receptor antagonists (MRAs) are widely used for chronic central serous chorioretinopathy (cCSCR), but their effectiveness remains unclear. This research was conducted to evaluate the efficacy of this drugs for cCSCR.MethodsThis is a review of randomized clinical trials (RCT) comparing MRAs to placebo in adults with cCSCR, using the effects of MRAs on best-corrected visual acuity (BCVA) and adverse events as primary outcomes and the effects of MRAs on anatomical parameters as secondary outcomes: central subfield thickness (CST), subretinal fluid height (SFH) and central choroidal thickness (CCT). Our all-language online search included Medline (via PubMed), Central, Embase, Lilacs, Ibecs, and RCT registers platforms, as late as May 2021. We used the Cochrane risk-of-bias tool (version 2) to assess the methodological quality of each study and synthesized the results in meta-analyses using a random-effects model.ResultsThe search identified 302 records, five of which were eligible, totaling 225 cCSCR patients (aged 45-62 years; M/F ratio 3.1:1) treated for 1 to 12 months with spironolactone (50 mg/day) or eplerenone (50 mg/day) vs. placebo. Moderate-certainty evidence suggests MRAs result in little to no improvement in BCVA compared to placebo (SMD 0.22; 95% CI - 0.04 to 0.48; studies = 5; comparisons = 6; participants = 218; I2 = 0%). Very low-certainty evidence suggests that, when compared to placebo, MRAs have a very uncertain impact on adverse effects (no meta-analysis was performed), and CST (MD 18.1; 95% CI - 113.04 to 76.84; participants = 145; studies = 2; I2 = 68%). MRAs also result in little to no difference in SFH (SMD - 0.35; 95% CI - 0.95 to 0.26; studies = 5; comparisons = 6; participants = 221; I2 = 76%; moderate certainty) and CCT (MD - 21.23; 95% CI - 64.69 to 22.24; participants = 206; studies = 4; comparisons = 5; I2 = 85%; low certainty).ConclusionMRAs have little to no effect on BCVA. Evidence for adverse events and CST is very uncertain. MRAs also have little to no effect on SFH and CCT. These findings should be considered when prescribing MRAs for cCSCR. This research was previous registration in the PROSPERO platform (CRD42020182601).

Dataset Information

Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.

Publications

Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.

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