Grassmann, Felix and Kiel, Christina and den Hollander, Anneke I. and Weeks, Daniel E. and Lotery, Andrew and Cipriani, Valentina and Weber, Bernhard H. F. (2019) Y chromosome mosaicism is associated with age-related macular degeneration. EUROPEAN JOURNAL OF HUMAN GENETICS, 27 (1). pp. 36-41. ISSN 1018-4813, 1476-5438
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Age-related macular degeneration (AMD) is the leading cause of blindness in industrialised countries, and thereby a major individual but also a socio-economic burden. Y chromosome loss in nucleated blood cells has been implicated in age-related diseases such as Alzheimer disease and was shown to be caused by increasing age, smoking and genetic factors. Mosaic loss of Y chromosome (mLOY) in peripheral blood was estimated from normalised dosages of genotyping chip data covering the male-specific region of the Y chromosome. After quality control, we assessed the association of mLOY on AMD risk in 5772 male cases and 6732 male controls. In controls the prevalence of mLOY increased significantly with age, which is consistent with previous reports. Importantly, mLOY was associated with late-stage AMD with genome-wide significance (OR: 1.332 [95% CI: 1.206; 1.472], P = 1.60e-08), independent of age, the AMD genetic risk score and the first two principle components of ancestry. Additionally conditioning on smoking behaviour had no influence on the observed association strength. mLOY was strongest associated in individuals aged between 65 and 75 years. Taken together, mLOY is significantly associated with risk for AMD, independent of known and potential confounding factors.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DISEASE; CANCER; BLOOD; IMMUNOSENESCENCE; GENETICS; RISK; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 28 Apr 2020 06:14 |
| Last Modified: | 28 Apr 2020 06:14 |
| URI: | https://pred.uni-regensburg.de/id/eprint/27943 |
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