Instrumenting Carotid Sonography Biomarkers and Polygenic Risk Score As a Novel Screening Approach for Retinal Detachment
學年 113
學期 2
出版（發表）日期 2025-04-01
作品名稱 Instrumenting Carotid Sonography Biomarkers and Polygenic Risk Score As a Novel Screening Approach for Retinal Detachment
作品名稱（其他語言）
著者 Kao-Jung Chang; Ching-Yun Wang; Hsin-Yu Wu; Pei-Yu Weng; Chia-Hsin Lu; Wei Chiu; Wei-Chieh Fang; Chong-En Kao; Cheng-Yi Li; Yi-Ting Chung; Yu-Chun Chen; Ai-Ru Hsieh(謝璦如); Shih-Hwa Chiou; Chih-Chien Hsu; Tai-Chi Lin; Shih-Jen Chen; De-Kuang Hwang
單位
出版者
著錄名稱、卷期、頁數 Translational Vision Science & Technology 14,p. 16
摘要 Purpose: Retinal detachment (RD) is a vision-threatening condition that manifests silently before abrupt disease onset; thus, most of the RD at-risk individuals are left unchecked until the first RD attack. Methods: To establish an RD risk–informing system for a broader population, we utilized carotid ultrasonography (CUS) biometrics, RD polygenic risk score (PRSRD), and clinical covariates (COVs) to assess RD risk predisposition factors. First, a backpropagation logistic regression model identified RD-associated CUS biomarkers and further incorporated them as a multivariable RD-risk nomogram. Next, a PRSRD model was established with the selected single-nucleotide polymorphisms (SNPs) curated as high functional expression candidates in the retina single-cell RNA datasets. Finally, a three-component RD prediction model (CUS, PRSRD, and COVs) was assembled by logistic cumulative analysis. Results: Demographic analysis reported hypertension (HTN) status was associated with RD (odds ratio [OR] = 1.601). The CUS regression model revealed that the minimum flow of the right internal carotid artery (ICA-Qmin; OR = 1.04) and the time-averaged maximum velocity of the right common carotid artery (CCA-TAMAX; OR = 1.03) were associated with increased RD risk. Notably, genome-wide association studies (GWAS) identified three significant SNPs (IGFBPL1 rs117248428, OR = 1.63; CELF2 rs56168975, OR = 1.72; and PAX6 rs11825821, OR = 1.61; P < 5.00 × 10−6) that are highly expressed at the RD border of the retinal pigment epithelium and choroid. Finally, the three-component model demonstrated state-of-the-art RD prediction (AUCHTN+ = 0.95, AUCHTN– = 0.93). Conclusions: Based on instrumenting CUS images and genetic PRSRD, we are proposing a screening method for RD at-risk patients. Translational Relevance: Results from this study demonstrated the combination of CUS and GWAS as a cost-effective, population-wide screening framework for identifying RD at-risk individuals.
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語言 en_US
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期刊性質 國外
收錄於 SCI
產學合作
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審稿制度 是
國別 USA
公開徵稿
出版型式 ,電子版
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