Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients
Age-related macular degeneration (AMD) is a common retina degenerative disease with a complex genetic and environmental background. This study aimed to determine the polygenic risk score (PRS) stratification between the AMD case and control patients. The PRS model was established on the targeted seq...
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MDPI AG
2022-12-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/1/295 |
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| author | Anna Wąsowska Sławomir Teper Ewa Matczyńska Przemysław Łyszkiewicz Adam Sendecki Anna Machalińska Edward Wylęgała Anna Boguszewska-Chachulska |
| author_facet | Anna Wąsowska Sławomir Teper Ewa Matczyńska Przemysław Łyszkiewicz Adam Sendecki Anna Machalińska Edward Wylęgała Anna Boguszewska-Chachulska |
| author_sort | Anna Wąsowska |
| collection | DOAJ |
| description | Age-related macular degeneration (AMD) is a common retina degenerative disease with a complex genetic and environmental background. This study aimed to determine the polygenic risk score (PRS) stratification between the AMD case and control patients. The PRS model was established on the targeted sequencing data of a cohort of 471 patients diagnosed with AMD and 167 healthy controls without symptoms of retinal degeneration. The highest predictive value to the target dataset was achieved for a 22-variant model with a <i>p</i>-value lower than threshold P<sub>T</sub> = 0.0123. The median PRS for cases was higher by 1.1 than for control samples (95% CI: (−1.19; −0.85)). The patients in the highest quantile had a significantly higher relative risk of developing AMD than those in the lowest reference quantile (OR = 35.13, 95% CI: (7.9; 156.1), <i>p</i> < 0.001). The diagnostic ability was investigated using ROC analysis with AUC = 0.76 (95% CI: (0.72; 0.80)). The polygenic susceptibility to AMD may be the starting point to expand AMD diagnostics based on rare highly penetrant variants and investigate associations with disease progression and treatment response in Polish patients in future studies. |
| first_indexed | 2024-03-11T09:56:45Z |
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| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T09:56:45Z |
| publishDate | 2022-12-01 |
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| series | Journal of Clinical Medicine |
| spelling | doaj.art-3c956c94d95843d8a422dead799009202023-11-16T15:44:10ZengMDPI AGJournal of Clinical Medicine2077-03832022-12-0112129510.3390/jcm12010295Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish PatientsAnna Wąsowska0Sławomir Teper1Ewa Matczyńska2Przemysław Łyszkiewicz3Adam Sendecki4Anna Machalińska5Edward Wylęgała6Anna Boguszewska-Chachulska7Chair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 40-752 Katowice, PolandChair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 40-752 Katowice, PolandChair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 40-752 Katowice, PolandGenomed S.A., 02-971 Warszawa, PolandChair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 40-752 Katowice, PolandFirst Department of Ophthalmology, Pomeranian Medical University, 70-204 Szczecin, PolandChair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 40-752 Katowice, PolandGenomed S.A., 02-971 Warszawa, PolandAge-related macular degeneration (AMD) is a common retina degenerative disease with a complex genetic and environmental background. This study aimed to determine the polygenic risk score (PRS) stratification between the AMD case and control patients. The PRS model was established on the targeted sequencing data of a cohort of 471 patients diagnosed with AMD and 167 healthy controls without symptoms of retinal degeneration. The highest predictive value to the target dataset was achieved for a 22-variant model with a <i>p</i>-value lower than threshold P<sub>T</sub> = 0.0123. The median PRS for cases was higher by 1.1 than for control samples (95% CI: (−1.19; −0.85)). The patients in the highest quantile had a significantly higher relative risk of developing AMD than those in the lowest reference quantile (OR = 35.13, 95% CI: (7.9; 156.1), <i>p</i> < 0.001). The diagnostic ability was investigated using ROC analysis with AUC = 0.76 (95% CI: (0.72; 0.80)). The polygenic susceptibility to AMD may be the starting point to expand AMD diagnostics based on rare highly penetrant variants and investigate associations with disease progression and treatment response in Polish patients in future studies.https://www.mdpi.com/2077-0383/12/1/295age-related macular degenerationAMD geneticspolygenic modelpolygenic risk scoresusceptibility variants |
| spellingShingle | Anna Wąsowska Sławomir Teper Ewa Matczyńska Przemysław Łyszkiewicz Adam Sendecki Anna Machalińska Edward Wylęgała Anna Boguszewska-Chachulska Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients Journal of Clinical Medicine age-related macular degeneration AMD genetics polygenic model polygenic risk score susceptibility variants |
| title | Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients |
| title_full | Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients |
| title_fullStr | Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients |
| title_full_unstemmed | Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients |
| title_short | Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients |
| title_sort | polygenic risk score impact on susceptibility to age related macular degeneration in polish patients |
| topic | age-related macular degeneration AMD genetics polygenic model polygenic risk score susceptibility variants |
| url | https://www.mdpi.com/2077-0383/12/1/295 |
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