Research on genetic model of keratoconus

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...

Full description

Bibliographic Details
Main Authors: Shan-Shan Yin, Li-Yan Xu, Kai-Li Yang, Meng Zhu, Qing Wang, An-Qi Chang, Yi-Fan Wang, Yi Yuan, Sheng-Wei Ren
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2023-10-01
Series:Guoji Yanke Zazhi
Subjects:
Online Access:http://ies.ijo.cn/cn_publish/2023/10/202310025.pdf
_version_ 1797682032283746304
author Shan-Shan Yin
Li-Yan Xu
Kai-Li Yang
Meng Zhu
Qing Wang
An-Qi Chang
Yi-Fan Wang
Yi Yuan
Sheng-Wei Ren
author_facet Shan-Shan Yin
Li-Yan Xu
Kai-Li Yang
Meng Zhu
Qing Wang
An-Qi Chang
Yi-Fan Wang
Yi Yuan
Sheng-Wei Ren
author_sort Shan-Shan Yin
collection DOAJ
description 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.
first_indexed 2024-03-11T23:53:38Z
format Article
id doaj.art-f1cce53e0e5a4b16b4c5c1620c59daad
institution Directory Open Access Journal
issn 1672-5123
language English
last_indexed 2024-03-11T23:53:38Z
publishDate 2023-10-01
publisher Press of International Journal of Ophthalmology (IJO PRESS)
record_format Article
series Guoji Yanke Zazhi
spelling doaj.art-f1cce53e0e5a4b16b4c5c1620c59daad2023-09-19T03:02:27ZengPress of International Journal of Ophthalmology (IJO PRESS)Guoji Yanke Zazhi1672-51232023-10-0123101737174010.3980/j.issn.1672-5123.2023.10.25202310025Research on genetic model of keratoconusShan-Shan Yin0Li-Yan Xu1Kai-Li Yang2Meng Zhu3Qing Wang4An-Qi Chang5Yi-Fan Wang6Yi Yuan7Sheng-Wei Ren8People's Hospital of Zhengzhou University;Henan Provincial People's Hospital;Henan Eye Hospital, Zhengzhou 450003, Henan Province, ChinaPeople's Hospital of Zhengzhou University;Henan Provincial People's Hospital;Henan Eye Hospital, Zhengzhou 450003, Henan Province, ChinaPeople's Hospital of Zhengzhou University;Henan Provincial People's Hospital;Henan Eye Hospital, Zhengzhou 450003, Henan Province, ChinaPeople's Hospital of Zhengzhou University;Henan Provincial People's Hospital;Henan Eye Hospital, Zhengzhou 450003, Henan Province, ChinaHenan University People's Hospital;Henan Provincial People's Hospital;Henan Eye Hospital, Zhengzhou 450003, Henan Province, ChinaHenan University People's Hospital;Henan Provincial People's Hospital;Henan Eye Hospital, Zhengzhou 450003, Henan Province, ChinaPeople's Hospital of Zhengzhou University;Henan Provincial People's Hospital;Henan Eye Hospital, Zhengzhou 450003, Henan Province, ChinaPeople's Hospital of Zhengzhou University;Henan Provincial People's Hospital;Henan Eye Hospital, Zhengzhou 450003, Henan Province, ChinaPeople's Hospital of Zhengzhou University;Henan Provincial People's Hospital;Henan Eye Hospital, Zhengzhou 450003, Henan Province, ChinaAIM: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.http://ies.ijo.cn/cn_publish/2023/10/202310025.pdfkeratoconusgenetic modelpolygenetic diseasegenetic epidemiology
spellingShingle Shan-Shan Yin
Li-Yan Xu
Kai-Li Yang
Meng Zhu
Qing Wang
An-Qi Chang
Yi-Fan Wang
Yi Yuan
Sheng-Wei Ren
Research on genetic model of keratoconus
Guoji Yanke Zazhi
keratoconus
genetic model
polygenetic disease
genetic epidemiology
title Research on genetic model of keratoconus
title_full Research on genetic model of keratoconus
title_fullStr Research on genetic model of keratoconus
title_full_unstemmed Research on genetic model of keratoconus
title_short Research on genetic model of keratoconus
title_sort research on genetic model of keratoconus
topic keratoconus
genetic model
polygenetic disease
genetic epidemiology
url http://ies.ijo.cn/cn_publish/2023/10/202310025.pdf
work_keys_str_mv AT shanshanyin researchongeneticmodelofkeratoconus
AT liyanxu researchongeneticmodelofkeratoconus
AT kailiyang researchongeneticmodelofkeratoconus
AT mengzhu researchongeneticmodelofkeratoconus
AT qingwang researchongeneticmodelofkeratoconus
AT anqichang researchongeneticmodelofkeratoconus
AT yifanwang researchongeneticmodelofkeratoconus
AT yiyuan researchongeneticmodelofkeratoconus
AT shengweiren researchongeneticmodelofkeratoconus