المؤلفون: Georgina L Hollitt, Ayub Qassim, Daniel Thomson, Joshua M Schmidt, Thi Thi Nguyen, John Landers, Stuart MacGregor, Owen M Siggs, Emmanuelle Souzeau, Jamie E Craig

المصدر: BMC Ophthalmology, Vol 23, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Glaucoma, Polygenic risk score, Genetic testing, Macular degeneration, POAG, AMD, Ophthalmology, RE1-994

الوصف: Abstract Background Glaucoma and age-related macular degeneration (AMD) account for a substantial portion of global blindness. Both conditions are highly heritable, with recognised monogenic and polygenic inheritance patterns. Current screening guidelines lack decisive recommendations. Polygenic risk scores (PRS) allow for cost-effective broad population risk stratification for these conditions. The predictive potential of PRS could facilitate earlier diagnosis and treatment, and prevent unnecessary vision loss. Methods The Genetic Risk Assessment of Degenerative Eye disease (GRADE) study is a prospective study designed to generate high-quality evidence about the feasibility of PRS to stratify individuals from the general population, enabling identification of those at highest risk of developing glaucoma or AMD. The targeted recruitment is 1000 individuals aged over 50 years, from which blood or saliva samples will be used for genotyping and an individual PRS for glaucoma and AMD will be derived. Individuals with PRS values in the bottom decile (n = 100), top decile (n = 100) and middle 80% (n = 100) for both glaucoma and AMD will undergo a detailed eye examination for glaucoma and/or AMD. Discussion The primary objective will be to compare the prevalence of glaucoma and AMD cases between low, intermediate, and high PRS risk groups. We expect to find a higher prevalence of both diseases in the high PRS risk group, as compared to the middle and low risk groups. This prospective study will assess the clinical validity of a PRS for glaucoma and AMD in the general Australian population. Positive findings will support the implementation of PRS into clinical practice.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2415Test

الوصول الحر: https://doaj.org/article/f03b3831676b4d1982b0bce8f6de8137Test

المؤلفون: Mathias Seviiri, Richard A. Scolyer, D. Timothy Bishop, Julia A. Newton-Bishop, Mark M. Iles, Serigne N. Lo, Johnathan R. Stretch, Robyn P. M. Saw, Omgo E. Nieweg, Kerwin F. Shannon, Andrew J. Spillane, Scott D. Gordon, Catherine M. Olsen, David C. Whiteman, Maria Teresa Landi, John F. Thompson, Georgina V. Long, Stuart MacGregor, Matthew H. Law

المصدر: Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Melanoma, Melanoma-specific survival, Polygenic risk score, Genome-wide association study, Skin cancer, Medicine

الوصف: Abstract Background The role of germline genetic factors in determining survival from cutaneous melanoma (CM) is not well understood. Objective To perform a genome-wide association study (GWAS) meta-analysis of melanoma-specific survival (MSS), and test whether a CM-susceptibility polygenic risk score (PRS) is associated with MSS. Methods We conducted two Cox proportional-hazard GWAS of MSS using data from the Melanoma Institute Australia, a high ultraviolet (UV) radiation setting (MIA; 5,762 patients with melanoma; 800 melanoma deaths) and UK Biobank (UKB: 5,220 patients with melanoma; 241 melanoma deaths), and combined them in a fixed-effects meta-analysis. Significant (P

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-5876Test

الوصول الحر: https://doaj.org/article/ef000a44851f4e28a8d7423a1ed25890Test

المؤلفون: Xikun Han, Samantha Sze-Yee Lee, Nathan Ingold, Nigel McArdle, Anthony P. Khawaja, Stuart MacGregor, David A. Mackey

المصدر: BMC Medicine, Vol 19, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Sleep apnoea, Glaucoma, Age-related macular degeneration, UK Biobank, CLSA, Cohort study, Medicine

الوصف: Abstract Background Sleep apnoea, a common sleep-disordered breathing condition, is characterised by upper airway collapse during sleep resulting in transient hypoxia, hypoperfusion of the optic nerve, and spike in intracranial pressure. Previous studies have reported conflicting findings on the association of sleep apnoea with glaucoma, and there are limited reports on the link between sleep apnoea and age-related macular degeneration (AMD). Methods Middle-aged and older participants from the longitudinal United Kingdom (UK) Biobank (n = 502,505) and the Canadian Longitudinal Study on Aging (CLSA; n = 24,073) were included in this analysis. Participants in the UK Biobank and the CLSA were followed for 8 and 3 years, respectively. Participants with diagnosed glaucoma or AMD at baseline were excluded from the analysis. In the UK Biobank, sleep apnoea and incident cases of glaucoma and AMD were identified through hospital inpatient admission, primary care records, and self-reported data. Multivariable Cox proportional hazards models were used to explore associations of sleep apnoea with incidence of glaucoma or AMD. Results During the 8-year follow-up in the UK Biobank, glaucoma incidence rates per 1000 person-years were 2.46 and 1.59 for participants with and without sleep apnoea, and the AMD incidence rates per 1000 person-years were 2.27 and 1.42 for participants with and without sleep apnoea, respectively. Multivariable adjusted hazard ratios of glaucoma and AMD risk for sleep apnoea were 1.33 (95% confidence interval [CI] 1.10–1.60, P = 0.003) and 1.39 (95% CI 1.15–1.68, P

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1741-7015Test

الوصول الحر: https://doaj.org/article/187c834ef29248b0a7fcca9d2d0f6692Test