Genetic associations for keratoconus: a systematic review and meta-analysis

Abstract Genetic associations for keratoconus could be useful for understanding disease pathogenesis and discovering biomarkers for early detection of the disease. We conducted a systematic review and meta-analysis to summarize all reported genetic associations for the disease. We searched in the ME...

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Autores principales:	Shi Song Rong, Sarah Tsz Ue Ma, Xin Ting Yu, Li Ma, Wai Kit Chu, Tommy Chung Yan Chan, Yu Meng Wang, Alvin L. Young, Chi Pui Pang, Vishal Jhanji, Li Jia Chen
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/17beae033d71477dbab04e41feb45db0
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spelling	oai:doaj.org-article:17beae033d71477dbab04e41feb45db02021-12-02T16:07:46ZGenetic associations for keratoconus: a systematic review and meta-analysis10.1038/s41598-017-04393-22045-2322https://doaj.org/article/17beae033d71477dbab04e41feb45db02017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-04393-2https://doaj.org/toc/2045-2322Abstract Genetic associations for keratoconus could be useful for understanding disease pathogenesis and discovering biomarkers for early detection of the disease. We conducted a systematic review and meta-analysis to summarize all reported genetic associations for the disease. We searched in the MEDLINE, Embase, Web of Science, and HuGENET databases for genetic studies of keratoconus published from 1950 to June 2016. The summary odds ratio and 95% confidence intervals of all polymorphisms were estimated using the random-effect model. Among 639 reports that were retrieved, 24 fulfilled required criteria as eligible studies for meta-analysis, involving a total of 53 polymorphisms in 28 genes/loci. Results of our meta-analysis lead to the prioritization of 8 single-nucleotide polymorphisms (SNPs) in 6 genes/loci for keratoconus in Whites. Of them 5 genes/loci were originally detected in genome-wide association studies, including FOXO1 (rs2721051, P = 5.6 × 10−11), RXRA-COL5A1 (rs1536482, P = 2.5 × 10−9), FNDC3B (rs4894535, P = 1.4 × 10−8), IMMP2L (rs757219, P = 6.1 × 10−7; rs214884, P = 2.3 × 10−5), and BANP-ZNF469 (rs9938149, P = 1.3 × 10−5). The gene COL4A4 (rs2229813, P = 1.3 × 10−12; rs2228557, P = 4.5 × 10−7) was identified in previous candidate gene studies. We also found SNPs in 10 genes/loci that had a summary P value < 0.05. Sensitivity analysis indicated that the results were robust. Replication studies and understanding the roles of these genes in keratoconus are warranted.Shi Song RongSarah Tsz Ue MaXin Ting YuLi MaWai Kit ChuTommy Chung Yan ChanYu Meng WangAlvin L. YoungChi Pui PangVishal JhanjiLi Jia ChenNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Shi Song Rong Sarah Tsz Ue Ma Xin Ting Yu Li Ma Wai Kit Chu Tommy Chung Yan Chan Yu Meng Wang Alvin L. Young Chi Pui Pang Vishal Jhanji Li Jia Chen Genetic associations for keratoconus: a systematic review and meta-analysis
description	Abstract Genetic associations for keratoconus could be useful for understanding disease pathogenesis and discovering biomarkers for early detection of the disease. We conducted a systematic review and meta-analysis to summarize all reported genetic associations for the disease. We searched in the MEDLINE, Embase, Web of Science, and HuGENET databases for genetic studies of keratoconus published from 1950 to June 2016. The summary odds ratio and 95% confidence intervals of all polymorphisms were estimated using the random-effect model. Among 639 reports that were retrieved, 24 fulfilled required criteria as eligible studies for meta-analysis, involving a total of 53 polymorphisms in 28 genes/loci. Results of our meta-analysis lead to the prioritization of 8 single-nucleotide polymorphisms (SNPs) in 6 genes/loci for keratoconus in Whites. Of them 5 genes/loci were originally detected in genome-wide association studies, including FOXO1 (rs2721051, P = 5.6 × 10−11), RXRA-COL5A1 (rs1536482, P = 2.5 × 10−9), FNDC3B (rs4894535, P = 1.4 × 10−8), IMMP2L (rs757219, P = 6.1 × 10−7; rs214884, P = 2.3 × 10−5), and BANP-ZNF469 (rs9938149, P = 1.3 × 10−5). The gene COL4A4 (rs2229813, P = 1.3 × 10−12; rs2228557, P = 4.5 × 10−7) was identified in previous candidate gene studies. We also found SNPs in 10 genes/loci that had a summary P value < 0.05. Sensitivity analysis indicated that the results were robust. Replication studies and understanding the roles of these genes in keratoconus are warranted.
format	article
author	Shi Song Rong Sarah Tsz Ue Ma Xin Ting Yu Li Ma Wai Kit Chu Tommy Chung Yan Chan Yu Meng Wang Alvin L. Young Chi Pui Pang Vishal Jhanji Li Jia Chen
author_facet	Shi Song Rong Sarah Tsz Ue Ma Xin Ting Yu Li Ma Wai Kit Chu Tommy Chung Yan Chan Yu Meng Wang Alvin L. Young Chi Pui Pang Vishal Jhanji Li Jia Chen
author_sort	Shi Song Rong
title	Genetic associations for keratoconus: a systematic review and meta-analysis
title_short	Genetic associations for keratoconus: a systematic review and meta-analysis
title_full	Genetic associations for keratoconus: a systematic review and meta-analysis
title_fullStr	Genetic associations for keratoconus: a systematic review and meta-analysis
title_full_unstemmed	Genetic associations for keratoconus: a systematic review and meta-analysis
title_sort	genetic associations for keratoconus: a systematic review and meta-analysis
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/17beae033d71477dbab04e41feb45db0
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Genetic associations for keratoconus: a systematic review and meta-analysis

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