圆锥角膜的遗传模式研究

Research on genetic model of keratoconus

摘要:

目的：探讨遗传因素在圆锥角膜发病中的作用及圆锥角膜的遗传模式。

方法：采用遗传流行病学方法对2020-07/2023-04就诊于河南省立眼科医院的圆锥角膜患者100例的一级亲属280例的患病情况进行调查，采用Falconer回归法进行遗传度的估算，采用Penrose法进行一般遗传模式估计，采用Falconer公式、Edwards近似公式及江三多阈值模型推导公式进行遗传模式的确认。

结果：纳入的圆锥角膜患者一级亲属中患有圆锥角膜者16例(5.714%)，圆锥角膜遗传度为(86.100±7.400)%。Penrose法计算得出同胞患病率(S)/一般人群患病率(q)为35.348，接近1/(q)^1/2，提示圆锥角膜符合多基因遗传模式。Falconer公式、Edwards近似公式及江三多阈值模型推导公式计算圆锥角膜患者一级亲属预期患病率分别为5.900%、7.714%、5.700%，与圆锥角膜患者一级亲属实际患病率(5.714%)均无显著差异，提示圆锥角膜为多基因遗传病。

结论：遗传因素在圆锥角膜的发病中占有重要作用，圆锥角膜是一种多基因遗传病。

Abstract:

AIM:To explore the effect of genetic factors on the pathogenesis of keratoconus and its genetic model.

METHODS: Genetic epidemiological methods were used to investigate the prevalence of keratoconus in 280 first-degree relatives of 100 patients with keratoconus who attended Henan Eye Hospital between July 2020 and April 2023. The heritability was estimated by Falconer regression method. The general genetic model was calculated using Penrose method, and the genetic model was confirmed by Falconer formula, Edwards approximation formula and the projection formula of San-Duo Jiang's threshold model theory.

RESULTS: The results showed that there were 16(5.714%)first-degree relatives of keratoconus probands suffering from keratoconus, and the heritability of keratoconus was(86.100±7.400)%. The S/q score calculated by the Penrose method was 35.348, which was near to 1/(q)^1/2, suggesting that the genetic model of keratoconus might be polygenic inheritance. The expected prevalence in first-degree relatives of keratoconus patients by Falconer formula, Edwards approximation formula and the projection formula of San-Duo Jiang's threshold model theory were 5.900%, 7.714% and 5.700%, respectively, which showed no significant differences from the actual prevalence(5.714%), suggesting that keratoconus was a polygenetic disease.

CONCLUSION:Genetic factors might play an important role in the pathogenesis of keratoconus, and keratoconus is a polygenetic disease.