Yin Shanshan, Xu Liyan, Yang Kaili, Fan Qi, Gu Yuwei, Yin Chenchen, Zang Yonghao, Wang Yifan, Yuan Yi, Chang Anqi, Li Changxiu, Pang Chenjiu, Sahebjada Srujana, Hao Yibin, Ren Shengwei
Henan Provincial People's Hospital, Henan Eye Hospital, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Eye Institute, Henan Academy of Innovations in Medical Science, Zhengzhou, China.
Invest Ophthalmol Vis Sci. 2025 Aug 1;66(11):30. doi: 10.1167/iovs.66.11.30.
Keratoconus (KC) is a corneal disorder characterized by progressive corneal protrusion and thinning. Our previous studies have demonstrated that genetic factors influence KC occurrence. The purpose of this study was to explore the genetic model of KC from the perspective of genetic epidemiology.
A total of 157 KC families, including 157 KC probands and their 445 first-degree relatives, from the Chinese Keratoconus (CKC) Cohort Study were included in present study. The genetic model of KC was evaluated by three genetic epidemiological analyses, including the Penrose method, simple segregation analysis, and complex segregation analysis, where the complex segregation analysis was conducted using the Statistical Analysis for Genetic Epidemiology package.
The 157 KC families included 181 affected individuals, 384 unaffected individuals, and 37 unknown individuals. There are 24 individuals diagnosed with KC among the 445 first-degree relatives. The relative frequency calculated by the Penrose method was 33.188, which was close to 1/√q. In addition, the segregation ratio calculated by the simple segregation analysis was 0.046, which was less than 1/4. Furthermore, all the hypotheses of Mendelian, nontransmission and environmental model were rejected by complex segregation analysis. These results fully showed that KC is a disease of multifactorial inheritance.
This study identified that KC followed a pattern of multifactorial inheritance, which is helpful to provide initial guidance for prevention and management of the disease and points out a research direction for future research.
圆锥角膜（KC）是一种以角膜进行性突出和变薄为特征的角膜疾病。我们之前的研究表明遗传因素影响KC的发生。本研究的目的是从遗传流行病学角度探讨KC的遗传模式。
本研究纳入了来自中国圆锥角膜（CKC）队列研究的157个KC家系，包括157名KC先证者及其445名一级亲属。通过三种遗传流行病学分析评估KC的遗传模式，包括彭罗斯法、简单分离分析和复杂分离分析，其中复杂分离分析使用遗传流行病学统计分析软件包进行。
157个KC家系包括181名患病个体、384名未患病个体和37名情况未知的个体。在445名一级亲属中有24人被诊断为KC。用彭罗斯法计算的相对频率为33.188，接近1/√q。此外，简单分离分析计算的分离比为0.046，小于1/4。此外，复杂分离分析否定了孟德尔、非传递和环境模型的所有假设。这些结果充分表明KC是一种多因素遗传疾病。
本研究确定KC遵循多因素遗传模式，这有助于为该疾病的预防和管理提供初步指导，并为未来研究指出一个研究方向。
