Polygenic Prediction of Keratoconus and its Measures: Cross-Sectional and Longitudinal Analyses in Community-Based Young Adults,American Journal of Ophthalmology

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Polygenic Prediction of Keratoconus and its Measures: Cross-Sectional and Longitudinal Analyses in Community-Based Young Adults
American Journal of Ophthalmology ( IF 4.1 ) Pub Date : 2024-05-11 , DOI: 10.1016/j.ajo.2024.05.009
Samantha Sze-Yee Lee ₁ , Santiago Diaz-Torres ₂ , Weixiong He ₂ , Seyhan Yazar ₃ , Elsie Chan ₄ , Elaine W Chong ₅ , Puya Gharahkhani ₆ , Stuart Macgregor ₂ , Gareth Lingham ₇ , David A Mackey ₈

Affiliation

From the University of Western Australia (S.S.Y.L., S.Y., G.L., D.A.M.), Centre for Ophthalmology and Visual Science (Incorporating the Lions Eye Institute), Perth, WA, Australia.
QIMR Berghofer Medical Research Institute (S.D.T., W.H., P.G., S.M.), Brisbane, QLD, Australia; Faculty of Medicine (S.D.T., W.H., P.G., S.M.), University of Queensland, Brisbane, QLD, Australia.
From the University of Western Australia (S.S.Y.L., S.Y., G.L., D.A.M.), Centre for Ophthalmology and Visual Science (Incorporating the Lions Eye Institute), Perth, WA, Australia; Single Cell and Computational Genomics Laboratory (S.Y.), Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Centre for Eye Research Australia (E.C., E.W.C., D.A.M.), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, VIC, Australia.
Centre for Eye Research Australia (E.C., E.W.C., D.A.M.), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, VIC, Australia; Royal Melbourne Hospital (E.W.C.), Melbourne, VIC, Australia.
QIMR Berghofer Medical Research Institute (S.D.T., W.H., P.G., S.M.), Brisbane, QLD, Australia; Faculty of Medicine (S.D.T., W.H., P.G., S.M.), University of Queensland, Brisbane, QLD, Australia; School of Biomedical Sciences (P.G.), Queensland University of Technology, Brisbane, QLD, Australia.
From the University of Western Australia (S.S.Y.L., S.Y., G.L., D.A.M.), Centre for Ophthalmology and Visual Science (Incorporating the Lions Eye Institute), Perth, WA, Australia; Centre for Eye Research Ireland (G.L.), Environmental, Sustainability and Health Institute, Technological University Dublin, Dublin, Ireland.
From the University of Western Australia (S.S.Y.L., S.Y., G.L., D.A.M.), Centre for Ophthalmology and Visual Science (Incorporating the Lions Eye Institute), Perth, WA, Australia; Centre for Eye Research Australia (E.C., E.W.C., D.A.M.), University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, VIC, Australia; School of Medicine, Menzies Research Institute Tasmania (D.A.M.), University of Tasmania, Hobart, TAS, Australia.

This study evaluates the performance of a multitrait polygenic risk score (PRS) in an independent cohort to predict incident or progression of keratoconus. Prospective cross-sectional and cohort study Setting: Single-center; Study population: 1478 community-based young adults (18-30 years; 51% female), including 609 (52% female) who returned for an 8-year follow-up; Observation procedures: Scheimpflug imaging (Pentacam, Oculus), genotyping and development of a multitrait PRS previously validated to predict keratoconus in older adults.; Main outcome measure: Belin/Ambrόsio enhanced ectasia display (BAD-D) score and keratoconus, defined as BAD-D ≥2.6, were each analyzed against the PRS using linear and logistic regression, respectively. Prevalence of keratoconus was 2.5% (95% confidence interval [CI] = 1.9-3.6) in the cross-sectional cohort. Each z-score increase in PRS was associated with worse BAD-D z-score by 0.13 (95%CI = 0.08-0.18) and 1.6 increased odds of keratoconus. The 8-year keratoconus incidence was 2.6% (95%CI = 1.3-4.0). Participants in the highest PRS decile were more likely to have incident keratoconus compared to the rest of the cohort (odds ratio = 3.85, 95%CI = 1.21-12.22). For each z-score increase in PRS, 8-year change in BAD-D z-score worsened by 0.11 (95%CI = 0.04-0.17). A PRS for keratoconus could be useful in predicting incident keratoconus and progression, demonstrating its potential utility in clinical settings to identify patients at high risk of postsurgery ectasia or those who may benefit most from keratoconus intervention.

中文翻译：

圆锥角膜的多基因预测及其测量：基于社区的年轻人的横断面和纵向分析

本研究评估了独立队列中多特征多基因风险评分（PRS）的表现，以预测圆锥角膜的发生或进展。前瞻性横断面和队列研究设置：单中心；研究人群：1478 名社区年轻人（18-30 岁；51% 女性），其中 609 名（52% 女性）返回进行 8 年随访；观察程序：Scheimpflug 成像（Pentacam、Oculus）、基因分型和多特征 PRS 的开发，此前已验证可预测老年人圆锥角膜。主要结果测量：分别使用线性回归和逻辑回归针对 PRS 分析 Belin/Ambrόsio 增强型扩张显示 (BAD-D) 评分和圆锥角膜（定义为 BAD-D ≥ 2.6）。横截面队列中圆锥角膜的患病率为 2.5%（95% 置信区间 [CI] = 1.9-3.6）。 PRS 的 z 得分每增加一次，BAD-D z 得分就会恶化 0.13 (95%CI = 0.08-0.18)，圆锥角膜的几率增加 1.6。 8 年圆锥角膜发病率为 2.6% (95%CI = 1.3-4.0)。与其他队列相比，PRS 最高十分位数的参与者更有可能发生圆锥角膜（比值比 = 3.85，95% CI = 1.21-12.22）。 PRS 每增加一次 z 得分，BAD-D z 得分的 8 年变化就会恶化 0.11 (95%CI = 0.04-0.17)。圆锥角膜的 PRS 可用于预测圆锥角膜的发生和进展，证明其在临床环境中的潜在用途，可识别术后扩张高风险的患者或可能从圆锥角膜干预中获益最多的患者。

更新日期：2024-05-11

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