Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.

Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion predisposing the patient to retinal tears and detachment. The etiology of this degeneration is still uncertain, but it is likely that both genetic and environmental factors play important roles in...

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Autores principales:	Akira Meguro, Hidenao Ideta, Masao Ota, Norihiko Ito, Ryuichi Ideta, Junichi Yonemoto, Masaki Takeuchi, Riyo Uemoto, Tadayuki Nishide, Yasuhito Iijima, Tatsukata Kawagoe, Eiichi Okada, Tomoko Shiota, Yuta Hagihara, Akira Oka, Hidetoshi Inoko, Nobuhisa Mizuki
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/2d8ccfcc9a7449f9aad5f4ed4cf19e06
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spelling	oai:doaj.org-article:2d8ccfcc9a7449f9aad5f4ed4cf19e062021-11-18T07:14:58ZCommon variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.1932-620310.1371/journal.pone.0039300https://doaj.org/article/2d8ccfcc9a7449f9aad5f4ed4cf19e062012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22723992/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion predisposing the patient to retinal tears and detachment. The etiology of this degeneration is still uncertain, but it is likely that both genetic and environmental factors play important roles in its development. To identify genetic susceptibility regions for lattice degeneration of the retina, we performed a genome-wide association study (GWAS) using a dense panel of 23,465 microsatellite markers covering the entire human genome. This GWAS in a Japanese cohort (294 patients with lattice degeneration and 294 controls) led to the identification of one microsatellite locus, D2S0276i, in the collagen type IV alpha 4 (COL4A4) gene on chromosome 2q36.3. To validate the significance of this observation, we evaluated the D2S0276i region in the GWAS cohort and in an independent Japanese cohort (280 patients and 314 controls) using D2S0276i and 47 single nucleotide polymorphisms covering the region. The strong associations were observed in D2S0276i and rs7558081 in the COL4A4 gene (Pc = 5.8 × 10(-6), OR = 0.63 and Pc = 1.0 × 10(-5), OR = 0.69 in a total of 574 patients and 608 controls, respectively). Our findings suggest that variants in the COL4A4 gene may contribute to the development of lattice degeneration of the retina.Akira MeguroHidenao IdetaMasao OtaNorihiko ItoRyuichi IdetaJunichi YonemotoMasaki TakeuchiRiyo UemotoTadayuki NishideYasuhito IijimaTatsukata KawagoeEiichi OkadaTomoko ShiotaYuta HagiharaAkira OkaHidetoshi InokoNobuhisa MizukiPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 6, p e39300 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Akira Meguro Hidenao Ideta Masao Ota Norihiko Ito Ryuichi Ideta Junichi Yonemoto Masaki Takeuchi Riyo Uemoto Tadayuki Nishide Yasuhito Iijima Tatsukata Kawagoe Eiichi Okada Tomoko Shiota Yuta Hagihara Akira Oka Hidetoshi Inoko Nobuhisa Mizuki Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.
description	Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion predisposing the patient to retinal tears and detachment. The etiology of this degeneration is still uncertain, but it is likely that both genetic and environmental factors play important roles in its development. To identify genetic susceptibility regions for lattice degeneration of the retina, we performed a genome-wide association study (GWAS) using a dense panel of 23,465 microsatellite markers covering the entire human genome. This GWAS in a Japanese cohort (294 patients with lattice degeneration and 294 controls) led to the identification of one microsatellite locus, D2S0276i, in the collagen type IV alpha 4 (COL4A4) gene on chromosome 2q36.3. To validate the significance of this observation, we evaluated the D2S0276i region in the GWAS cohort and in an independent Japanese cohort (280 patients and 314 controls) using D2S0276i and 47 single nucleotide polymorphisms covering the region. The strong associations were observed in D2S0276i and rs7558081 in the COL4A4 gene (Pc = 5.8 × 10(-6), OR = 0.63 and Pc = 1.0 × 10(-5), OR = 0.69 in a total of 574 patients and 608 controls, respectively). Our findings suggest that variants in the COL4A4 gene may contribute to the development of lattice degeneration of the retina.
format	article
author	Akira Meguro Hidenao Ideta Masao Ota Norihiko Ito Ryuichi Ideta Junichi Yonemoto Masaki Takeuchi Riyo Uemoto Tadayuki Nishide Yasuhito Iijima Tatsukata Kawagoe Eiichi Okada Tomoko Shiota Yuta Hagihara Akira Oka Hidetoshi Inoko Nobuhisa Mizuki
author_facet	Akira Meguro Hidenao Ideta Masao Ota Norihiko Ito Ryuichi Ideta Junichi Yonemoto Masaki Takeuchi Riyo Uemoto Tadayuki Nishide Yasuhito Iijima Tatsukata Kawagoe Eiichi Okada Tomoko Shiota Yuta Hagihara Akira Oka Hidetoshi Inoko Nobuhisa Mizuki
author_sort	Akira Meguro
title	Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.
title_short	Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.
title_full	Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.
title_fullStr	Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.
title_full_unstemmed	Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.
title_sort	common variants in the col4a4 gene confer susceptibility to lattice degeneration of the retina.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/2d8ccfcc9a7449f9aad5f4ed4cf19e06
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Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.

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