Bosten14iovsfinalaccepted.pdf (217.2 kB)
Suggestive association with ocular phoria at chromosome 6p22
journal contribution
posted on 2023-06-08, 19:48 authored by Jenny BostenJenny Bosten, Ruth E Hogg, Gary Bargary, Patrick T Goodbourn, Adam J Lawrance-Owen, John D MollonPURPOSE We conducted a genome-wide association study to identify genetic factors that contribute to the etiology of heterophoria. METHODS We measured near and far vertical and horizontal phorias in 988 healthy adults aged 16 to 40 using the Keystone telebinocular with plates 5218 and 5219. We regressed degree of phoria against genotype at 642758 genetic loci. To control for false positives, we applied the conservative genome-wide permutation test to our data. RESULTS A locus at 6p22.2 was found to be associated with the degree of near horizontal phoria (P = 2.3 × 10(-8)). The P value resulting from a genome-wide permutation test was 0.014. CONCLUSIONS The strongest association signal arose from an intronic region of the gene ALDH5A1, which encodes the mitochondrial enzyme succinic semialdehyde dehydrogenase (SSADH), an enzyme involved in ?-aminobutyric acid metabolism. Succinic semialdehyde dehydrogenase deficiency, resulting from mutations of ALDH5A1, causes a variety of neural and behavioral abnormalities, including strabismus. Variation in ALDH5A1 is likely to contribute to degree of horizontal phoria.
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Publication status
- Published
File Version
- Accepted version
Journal
Investigative Ophthalmology & Visual ScienceISSN
0146-0404Publisher
Association for Research in Vision and Ophthalmology (ARVO)External DOI
Issue
1Volume
55Page range
345-52Department affiliated with
- Psychology Publications
Full text available
- Yes
Peer reviewed?
- Yes
Legacy Posted Date
2015-01-28First Open Access (FOA) Date
2016-03-22First Compliant Deposit (FCD) Date
2015-01-28Usage metrics
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