About: Common Variants in CDKN2B-AS1 Associated with Optic-Nerve Vulnerability of Glaucoma Identified by Genome-Wide Association Studies in Japanese

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About: Common Variants in CDKN2B-AS1 Associated with Optic-Nerve Vulnerability of Glaucoma Identified by Genome-Wide Association Studies in Japanese Goto Sponge NotDistinct Permalink

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type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
title	Common Variants in CDKN2B-AS1 Associated with Optic-Nerve Vulnerability of Glaucoma Identified by Genome-Wide Association Studies in Japanese
Creator	Adachi, Hiroko Fuwa, Masahiro Ikeda, Yoko Imai, Kojiro Kageyama, Masaaki Kinoshita, Shigeru Mori, Kazuhiko Nakano, Masakazu Omi, Natsue Tashiro, Kei Tokuda, Yuichi Ueno, Morio
source	PMC
abstract	BACKGROUND: To date, only a small portion of the genetic variation for primary open-angle glaucoma (POAG), the major type of glaucoma, has been elucidated. METHODS AND PRINCIPAL FINDINGS: We examined our two data sets of the genome-wide association studies (GWAS) derived from a total of 2,219 Japanese subjects. First, we performed a GWAS by analyzing 653,519 autosomal common single-nucleotide polymorphisms (SNPs) in 833 POAG patients and 686 controls. As a result, five variants that passed the Bonferroni correction were identified in CDKN2B-AS1 on chromosome 9p21.3, which was already reported to be a significant locus in the Caucasian population. Moreover, we combined the data set with our previous GWAS data set derived from 411 POAG patients and 289 controls by the Mantel-Haenszel test, and all of the combined variants showed stronger association with POAG (P<5.8×10(−10)). We then subdivided the case groups into two subtypes based on the value of intraocular pressure (IOP)—POAG with high IOP (high pressure glaucoma, HPG) and that with normal IOP (normal pressure glaucoma, NPG)—and performed the GWAS using the two data sets, as the prevalence of NPG in Japanese is much higher than in Caucasians. The results suggested that the variants from the same CDKN2B-AS1 locus were likely to be significant for NPG patients. CONCLUSIONS AND SIGNIFICANCE: In this study, we successfully identified POAG-associated variants in the CDKN2B-AS1 locus using a Japanese population, i.e., variants originally reported as being associated with the Caucasian population. Although we cannot rule out that the significance could be due to the differences in sample size between HPG and NPG, the variants could be associated specifically with the vulnerability of the optic nerve to IOP, which is useful for investigating the etiology of glaucoma.
has issue date	2012-03-12(xsd:dateTime)
bibo:doi	10.1371/journal.pone.0033389
bibo:pmid	22428042
has license	cc-by
sha1sum (hex)	aa89440c172e206c9cdd2f77373ed2b4d1a6b975
schema:url	https://doi.org/10.1371/journal.pone.0033389
resource representing a document's title	Common Variants in CDKN2B-AS1 Associated with Optic-Nerve Vulnerability of Glaucoma Identified by Genome-Wide Association Studies in Japanese
has PubMed Central identifier	PMC3299784
has PubMed identifier	22428042
schema:publication	PLoS One
resource representing a document's body	covid:aa89440c172e206c9cdd2f77373ed2b4d1a6b975#body_text
is schema:about of	named entity 'NERVE ' named entity 'Japanese' named entity 'VULNERABILITY' named entity 'PORTION' named entity 'ASSOCIATED WITH' named entity 'CDKN2B-AS1' named entity 'GENETIC VARIATION' named entity 'GLAUCOMA' named entity 'PRIMARY OPEN-ANGLE GLAUCOMA' named entity 'SMALL' named entity 'VARIANTS' named entity 'IDENTIFIED BY' named entity 'COMMON' named entity 'GENOME-WIDE ASSOCIATION STUDIES' named entity 'GLAUCOMA' named entity 'MAJOR' named entity 'DATE' named entity 'BACKGROUND' named entity 'JAPANESE' named entity 'OPTIC-NERVE' named entity 'TYPE' covid:arg/aa89440c172e206c9cdd2f77373ed2b4d1a6b975 named entity 'glaucoma' named entity 'Vulnerability' named entity 'glaucoma' named entity 'Affymetrix' named entity 'HapMap' named entity 'SNPs' named entity 'CDKN2B' named entity 'data set' named entity 'GWAS' named entity 'IOP' named entity 'control group' named entity 'meta-analysis' named entity 'SNPs' named entity 'glaucoma' named entity 'JPT' named entity 'GWAS' named entity 'CAD' named entity 'genetic factors' named entity 'GWAS' named entity 'enhancers' named entity 'etiology' named entity 'IBD' named entity 'genetic markers' named entity 'sequencing data' named entity 'POAG' named entity 'etiology' named entity 'Affymetrix' named entity 'case-control' named entity 'Bonferroni correction' named entity 'GWAS' named entity 'mmHg' named entity 'up-regulated' named entity 'PLINK' named entity 'CAV1' named entity 'glaucoma' named entity 'CDKN2B' named entity 'loci' named entity 'POAG' named entity 'chi-square test' named entity 'POAG' named entity 'POAG' named entity 'CDKN2B' named entity 'Caucasians' named entity 'SNPs' named entity 'Haploview' named entity 'SNP' named entity 'glaucoma' named entity 'genetic markers'

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