Copy Number Variation at Chromosome 5q21.2 Is Associated With Intraocular Pressure | Zendy

Abhishek Nag | Zendy; Cristina Venturini | Zendy; Pirro G. Hysi | Zendy; Matthew Arno | Zendy; Estibaliz AldecoaOtalora Astarloa | Zendy; Stuart MacGregor | Zendy; Alex W. Hewitt | Zendy; Terri L. Young | Zendy; Paul Mitchell | Zendy; Ananth C. Viswanathan | Zendy; David A. Mackey | Zendy; Christopher J. Hammond | Zendy

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Copy Number Variation at Chromosome 5q21.2 Is Associated With Intraocular Pressure

Author(s) -

Abhishek Nag,

Cristina Venturini,

Pirro G. Hysi,

Matthew Arno,

Estibaliz AldecoaOtalora Astarloa,

Stuart MacGregor,

Alex W. Hewitt,

Terri L. Young,

Paul Mitchell,

Ananth C. Viswanathan,

David A. Mackey,

Christopher J. Hammond

Publication year - 2013

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.13-11952

Subject(s) - intraocular pressure , glaucoma , genome wide association study , copy number variation , heritability , medicine , twin study , genetic association , genetics , population , locus (genetics) , cohort , case control study , ophthalmology , genotype , biology , single nucleotide polymorphism , gene , genome , environmental health

Glaucoma is a major cause of blindness in the world. Recent genome-wide association studies (GWAS) have identified common genetic variants for glaucoma, but still a significant heritability gap remains. We hypothesized that copy number variants (CNVs) might influence part of the susceptibility to glaucoma or its related quantitative endophenotypes.

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