NDLI: Genome-wide association study and meta-analysis of intraocular pressure

Content Provider	Springer Nature Link
Author	Ozel, A. Bilge Moroi, Sayoko E. Reed, David M. Nika, Melisa Schmidt, Caroline M. Akbari, Sara Scott, Kathleen Rozsa, Frank Pawar, Hemant Musch, David C. Lichter, Paul R. Gaasterland, Doug Branham, Kari Gilbert, Jesse Garnai, Sarah J. Chen, Wei Othman, Mohammad Heckenlively, John Swaroop, Anand Abecasis, Gonçalo Friedman, David S. Zack, Don Ashley Koch, Allison Ulmer, Megan Kang, Jae H. Liu, Yutao Yaspan, Brian L. Haines, Jonathan Allingham, R. Rand Hauser, Michael A. Pasquale, Louis Wiggs, Janey Richards, Julia E. Li, Jun Z.
Copyright Year	2013
Abstract	Elevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angle glaucoma (POAG) at CDKN2B-AS1, CAV1/CAV2, and SIX1/SIX6. To identify novel genetic variants and replicate the published findings, we performed GWAS and meta-analysis of IOP in >6,000 subjects of European ancestry collected in three datasets: the NEI Glaucoma Human genetics collaBORation, GLAUcoma Genes and ENvironment study, and a subset of the Age-related Macular Degeneration-Michigan, Mayo, AREDS and Pennsylvania study. While no signal achieved genome-wide significance in individual datasets, a meta-analysis identified significant associations with IOP at TMCO1 (rs7518099-G, p = 8.0 × 10−8). Focused analyses of five loci previously reported for IOP and/or POAG, i.e., TMCO1, CDKN2B-AS1, GAS7, CAV1/CAV2, and SIX1/SIX6, revealed associations with IOP that were largely consistent across our three datasets, and replicated the previously reported associations in both effect size and direction. These results confirm the involvement of common variants in multiple genomic regions in regulating IOP and/or glaucoma risk.
Starting Page	41
Ending Page	57
Page Count	17
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	133
Issue Number	1
e-ISSN	14321203
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2013-09-04
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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