Format

Send to

Choose Destination

See 1 citation found by title matching your search:

Mol Vis. 2014 Sep 19;20:1281-95. eCollection 2014.

Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.

Author information

1
Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA.
2
Center for Human Genetics Research, Vanderbilt University, Nashville, TN.
3
Biomedical Informatics Research Center, Biostatistics, Marshfield Clinic Research Foundation, Marshfield, WI.
4
Group Health Research Institute, Seattle, WA.
5
Fred Hutchinson Cancer Research Center, Seattle, WA.
6
Ophthalmology, Marshfield Clinic Research Foundation, Marshfield, WI.
7
Division of Medical Genetics, University of Washington, Seattle, WA ; Department of Biostatistics, University of Washington, Seattle, WA.
8
Departments of Biomedical Informatics, Vanderbilt University, Nashville, TN ; Department of Medicine, Vanderbilt University, Nashville, TN.
9
Division of Medical Genetics, University of Washington, Seattle, WA ; Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA.
10
Office of Population Genomics, National Human Genome Research Institute, Bethesda, MD.
11
Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, WI.
12
Department of Biomedical Informatics, Mayo Clinic College of Medicine, Rochester, MN.
13
Division of Health and Biomedical Informatics, Department of Preventive Medicine, Northwestern University, Chicago, IL.
14
Department of Medicine, Vanderbilt University, Nashville, TN.
15
Departments of Biomedical Informatics, Vanderbilt University, Nashville, TN.
16
Departments of Biomedical Informatics, Vanderbilt University, Nashville, TN ; IMAGENETICS at Sanford Medical Center, Fargo, ND and Department of Internal Medicine, University of North Dakota, Fargo, ND.
17
Division of Genetics and Genomics, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA.
18
Public Health Sciences, University of Virginia, Charlottesville, VA.
19
Essentia Institute of Rural Health, Duluth, MN.

Abstract

PURPOSE:

Cataract is the leading cause of blindness in the world, and in the United States accounts for approximately 60% of Medicare costs related to vision. The purpose of this study was to identify genetic markers for age-related cataract through a genome-wide association study (GWAS).

METHODS:

In the electronic medical records and genomics (eMERGE) network, we ran an electronic phenotyping algorithm on individuals in each of five sites with electronic medical records linked to DNA biobanks. We performed a GWAS using 530,101 SNPs from the Illumina 660W-Quad in a total of 7,397 individuals (5,503 cases and 1,894 controls). We also performed an age-at-diagnosis case-only analysis.

RESULTS:

We identified several statistically significant associations with age-related cataract (45 SNPs) as well as age at diagnosis (44 SNPs). The 45 SNPs associated with cataract at p<1×10(-5) are in several interesting genes, including ALDOB, MAP3K1, and MEF2C. All have potential biologic relationships with cataracts.

CONCLUSIONS:

This is the first genome-wide association study of age-related cataract, and several regions of interest have been identified. The eMERGE network has pioneered the exploration of genomic associations in biobanks linked to electronic health records, and this study is another example of the utility of such resources. Explorations of age-related cataract including validation and replication of the association results identified herein are needed in future studies.

PMID:
25352737
PMCID:
PMC4168835
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for PubMed Central
Loading ...
Support Center