Evidence map›Paper›PMID 40201566›Full record

ArticleFrontiers in genetics2025

Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus.

Qinghong Lin, Xuejun Wang, Xiaoliao Peng, Tian Han, Ling Sun, Xiaoyu Zhang, Xingtao Zhou

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 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.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

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

7 authors.

Qinghong Lin *Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xuejun Wang *Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xiaoliao Peng *Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Tian HanDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Ling SunDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xiaoyu ZhangDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Xingtao ZhouDepartment of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To investigate the genetic characteristics of four Chinese families affected by keratoconus (KC). Methods: In the four families affected by KC, medical records, clinical observations, and blood samples were collected from all individuals. One hundred subjects without KC served as healthy controls. All controls and subjects in the four families underwent whole exome sequencing of their genomic DNA and polymerase chain reaction to confirm the variants. All variants were analyzed using online software; and Results: The clinical manifestations in those first-degree family members of the probands were atypical. The following four variants were identified in the four probands and other family members with KC: heterozygous missense variation c.109G>A (p.Glu37Lys, rs369263247) in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ( Conclusion: Four variants in the

Indexed as

2-oxoglutarate 5-dioxygenase 1 (PLOD1)collagen type I alpha 1collagen type IV alpha 1collagen type V alpha 2early diagnosiskeratoconusprocollagen-lysine

Identifiers

PMID40201566
PMCPMC11975878

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