| Title: | Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort |
| Journal: | Hum Mol Genet |
| Published: | 1 Apr 2019 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/30535121/ |
| DOI: | https://doi.org/10.1093/hmg/ddy422 |
Publication 3088
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Abstract
We conducted the first GWAS of macular thickness, which was measured by spectral-domain optical coherence tomography using 68,423 participants from the UK Biobank cohort. We identified 139 genetic loci associated with macular thickness at genome-wide significance (P < 5 ? 10-8). The most significant loci were LINC00461 (P = 5.1x10-120), TSPAN10 (P = 1.2x10-118), RDH5 (P = 9.2x10-105), and SLC6A20 (P = 1.4x10-71). Results from gene expression demonstrated that these genes are highly expressed in the retina. Other hits included many previously reported AMD genes, such as NPLOC4 (P = 1.7x10-103), RAD51B (P = 9.1x10-14) and SLC16A8 (P = 1.7x10-8), further providing functional significance of the identified loci. Through cross-phenotype analysis, these genetic loci also exhibited pleiotropic effects with myopia, neurodegenerative diseases (e.g. Parkinson s disease, schizophrenia, and Alzheimer s disease), cancer (e.g. breast, ovarian, and lung cancers), and metabolic traits (e.g. body mass index, waist circumference, and type 2 diabetes). Our findings provide the first insight into the genetic architecture of macular thickness.1 Author
- Gao XR et al.
1 Application
| Application ID | Title |
|---|---|
| 23424 | Ocular Genetics in the UK Biobank |
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