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ArticleInvestigative ophthalmology & visual science2025

Genetic Epidemiological Analysis of the Keratoconus Genetic Model in the Chinese Keratoconus Cohort Study.

Shanshan Yin, Liyan Xu, Kaili Yang, Qi Fan, Yuwei Gu, Chenchen Yin, Yonghao Zang, Yifan Wang, Yi Yuan, Anqi Chang and 5 more

Abstract read
In one paragraph

Article in Investigative ophthalmology & visual science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Shanshan YinHenan Provincial People's Hospital, Henan Eye Hospital, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Liyan XuHenan Provincial People's Hospital, Henan Eye Hospital, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Kaili YangHenan Provincial People's Hospital, Henan Eye Hospital, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Qi FanHenan Provincial People's Hospital, Henan Eye Hospital, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Yuwei GuHenan Provincial People's Hospital, Henan Eye Hospital, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Chenchen YinZhengzhou University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Zhengzhou, China.
Yonghao ZangXinxiang Medical University, Henan Provincial People's Hospital, Henan Eye Hospital, Zhengzhou, China.
Yifan WangZhengzhou University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Zhengzhou, China.
Yi YuanZhengzhou University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Zhengzhou, China.
Anqi ChangHenan University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Zhengzhou, China.
Changxiu LiZhengzhou University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Zhengzhou, China.
Chenjiu PangHenan Provincial People's Hospital, Henan Eye Hospital, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Srujana SahebjadaDepartment of Surgery, Ophthalmology, The University of Melbourne, Melbourne, Australia.
Yibin HaoHenan Provincial People's Hospital, Henan Eye Hospital, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Shengwei RenHenan Provincial People's Hospital, Henan Eye Hospital, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: 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. Methods: 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. Results: 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. Conclusions: 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.

Indexed as

East Asian PeopleGenetic Predisposition to DiseaseKeratoconusModels, GeneticAdolescentAdultChinaCohort StudiesFemaleHumansMaleMiddle AgedPedigreeYoung Adult

Identifiers

PMID40793856
PMCPMC12364013

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.