Genetic Estimates of Correlation and Causality Between Keratoconus and Osteoarthritis.

IF 1.9 3区医学 Q2 OPHTHALMOLOGY Cornea Pub Date : 2025-03-01 DOI:10.1097/ICO.0000000000003736

Tian Han, Xiaosong Han, Liu Liu, Yuliang Wang, Xiaoliao Peng, Xingtao Zhou

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Abstract

Purpose: The relationship between keratoconus (KC) and osteoarthritis (OA) has been hypothesized, yet the causal link remained obscure. We aimed to evaluate the genetic correlation and causality between KC and OA through a genetic perspective.

Methods: Linkage Disequilibrium Score Regression and bidirectional 2-sample Mendelian randomization (MR) analysis were conducted. Data were used from genome-wide association study on KC (4669 cases and 116,547 controls), OA (encompassing 24,955 patients with knee OA, 15,704 patients with hip OA, 39,427 patients with knee or hip OA, and 378,169 control participants), and KC data in the FinnGen consortium for replication and meta-analysis. Simple model, weighted model, inverse-variance weighted, weighted median, and MR-Egger regression were employed to assess the causal effects. MR pleiotropy residual sum and outlier method, MR-Egger method, and leave-one-out analysis were also applied to detect pleiotropy.

Results: No statistically significant genetic correlation between KC and OA (all P > 0.05) were observed. MR estimates obtained from all 5 methods after meta-analysis revealed nonsignificant odds ratio values of KC-related traits to knee OA, hip OA, and OA (all adjusted P > 0.05). No evidence of causal relationships of knee and hip OA with KC-related traits was detected after meta-analysis of all 5 MR methods (all adjusted P > 0.05).

Conclusions: The large MR analysis indicated that KC may not be causally associated with a risk of OA.

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角膜塑形镜与骨关节炎之间相关性和因果关系的遗传估计。

目的：角膜炎（KC）与骨关节炎（OA）之间的关系一直被假设，但其因果关系仍不明确。我们旨在从遗传学角度评估 KC 与 OA 之间的遗传相关性和因果关系：方法：进行了连锁不平衡评分回归和双向 2 样本孟德尔随机化（MR）分析。数据来自全基因组关联研究中的 KC（4669 例病例和 116,547 例对照）、OA（包括 24,955 例膝关节 OA 患者、15,704 例髋关节 OA 患者、39,427 例膝关节或髋关节 OA 患者和 378,169 例对照参与者），以及芬兰基因联盟中的 KC 数据，用于复制和荟萃分析。采用简单模型、加权模型、逆方差加权、加权中位数和MR-Egger回归来评估因果效应。此外，还采用了MR褶状效应残差和离群值法、MR-Egger法和leave-one-out分析法来检测褶状效应：结果：KC 和 OA 之间没有统计学意义上的遗传相关性（所有 P > 0.05）。荟萃分析后从所有 5 种方法中获得的 MR 估计值显示，KC 相关性状与膝关节 OA、髋关节 OA 和 OA 的几率比值均不显著（调整后 P > 0.05）。在对所有5种MR方法进行荟萃分析后，未发现膝关节和髋关节OA与KC相关特征存在因果关系的证据（调整后P均>0.05）：大型磁共振分析表明，KC 与罹患 OA 的风险可能没有因果关系。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Cornea 医学-眼科学

CiteScore

5.20

自引率

10.70%

发文量

354

审稿时长

3-6 weeks

期刊介绍： For corneal specialists and for all general ophthalmologists with an interest in this exciting subspecialty, Cornea brings together the latest clinical and basic research on the cornea and the anterior segment of the eye. Each volume is peer-reviewed by Cornea''s board of world-renowned experts and fully indexed in archival format. Your subscription brings you the latest developments in your field and a growing library of valuable professional references. Sponsored by The Cornea Society which was founded as the Castroviejo Cornea Society in 1975.