Evidence map›Paper›PMID 34642840›Full record

ArticleInternational ophthalmology2022

Understanding the role of corneal biomechanics-associated genetic variants by bioinformatic analyses.

Xiao Sun, Xiang Gao, Bo-Kun Mu, Yan Wang

Abstract read
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In one paragraph

Article in International ophthalmology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
1.0field-weighted citation impact, top 24% of its field
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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Biomechanical Analysis of Arm Manipulation in Tai Chi.Computational intelligence and neuroscience · 2022
    Article
  5. Article
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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

4 authors at 2 institutions in 1 country.

Xiao SunSchool of Medicine, Nankai University, Tianjin, 300071, China.
Xiang GaoSchool of Medicine, Nankai University, Tianjin, 300071, China.
Bo-Kun MuClinical College of Ophthalmology, Tianjin Medical University, Tianjin, 300070, China.
Yan WangSchool of Medicine, Nankai University, Tianjin, 300071, China. wangyan7143@vip.sina.com.ORCID http://orcid.org/0000-0002-1257-6635
Nankai University · CNTianjin Medical University · CN

Funding

National Natural Science Foundation of China 81670884National Natural Science Foundation of China 81873684
6 · The paper itself

Abstract

purposeTo analyze functions of corneal biomechanical properties (CBP)-related variants as corneal resistance factor (CRF) and corneal hysteresis (CH).

methodsRelated single nucleotide polymorphisms (SNPs) and genes were identified from NHGRI-EBI GWAS catalog, GWASdb v2 and possible data in published studies. HaploReg v4.1 was used to find linkage SNPs. Functional annotations were performed by GWAVA, CADD and RegulomeDB. GTEx Portal database was used to find out expression quantitative trait locus (eQTL) association. Enrichr was used to annotate the function of GWAS gene and the associated signal pathway. STING (v11.0) database was utilized for protein interaction and network construction.

resultsThe integration of 302 CH-associated and 420 CRF-associated lead SNPs has produced 531 CBP-associated lead SNPs. A total of 5,324 proxy variants identified using the HaploReg v4.1 and lead SNPs were functionally annotated. Based on the threshold (CADD ≥ 10, GWAVA ≥ 0.4 and RegulomeDB < rank 3), 23 prioritized putative regulatory SNPs were identified. Eight prioritized eQTL variants (rs75203695, rs34861673, rs846766, rs11024102, rs1377416, rs3829492, rs9934438 and rs197912) were found with strong potential of CBP regulation. It was indicated that CBP-associated genes were significantly enriched in extracellular matrix receptor interaction pathway, closely related to the phenotype of corneal dystrophy and keratoconus. COL1A1, SMAD3, BMP4 and RUNX2 occupied the core position in the co-expression network.

conclusionsData integrative analysis can evaluate CBP variations and explore collagen and extracellular matrix pathways in CBP regulation, which is a promising tool to investigate biological process of corneal diseases.

Indexed as

Biomechanical PhenomenaCorneaPolymorphism, Single NucleotideComputational BiologyGenome-Wide Association StudyHumansQuantitative Trait LociBioinformatic analysisCorneal biomechanical propertiesGWASSNP

Identifiers

PMID34642840
OpenAlexW3207513149

What OpenQuestion holds

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Registered trials

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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.