Evidence map›Paper›PMID 38767906›Full record

ArticleTranslational vision science & technology2024

Predicting Risks of Dry Eye Disease Development Using a Genome-Wide Polygenic Risk Score Model.

Chih-Chien Hsu, Hao-Kai Chuang, Yu-Jer Hsiao, Pin-Hsuan Chiang, Szu-Wen Chen, Wei-Ting Luo, Yi-Ping Yang, Ping-Hsing Tsai, Shih-Jen Chen, Ai-Ru Hsieh and 1 more

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In one paragraph

Article in Translational vision science & technology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Chih-Chien HsuDepartment of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
Hao-Kai ChuangDepartment of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
Yu-Jer HsiaoDepartment of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
Pin-Hsuan ChiangDepartment of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
Szu-Wen ChenDepartment of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan.
Wei-Ting LuoDepartment of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
Yi-Ping YangDepartment of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
Ping-Hsing TsaiDepartment of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
Shih-Jen ChenDepartment of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.
Ai-Ru HsiehDepartment of Statistics, Tamkang University, New Taipei City, Taiwan.
Shih-Hwa ChiouDepartment of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The purpose of this study was to conduct a large-scale genome-wide association study (GWAS) and construct a polygenic risk score (PRS) for risk stratification in patients with dry eye disease (DED) using the Taiwan Biobank (TWB) databases. Methods: This retrospective case-control study involved 40,112 subjects of Han Chinese ancestry, sourced from the publicly available TWB. Cases were patients with DED (n = 14,185), and controls were individuals without DED (n = 25,927). The patients with DED were further divided into 8072 young (<60 years old) and 6113 old participants (≥60 years old). Using PLINK (version 1.9) software, quality control was carried out, followed by logistic regression analysis with adjustments for sex, age, body mass index, depression, and manic episodes as covariates. We also built PRS prediction models using the standard clumping and thresholding method and evaluated their performance (area under the curve [AUC]) through five-fold cross-validation. Results: Eleven independent risk loci were identified for these patients with DED at the genome-wide significance levels, including DNAJB6, MAML3, LINC02267, DCHS1, SIRPB3P, HULC, MUC16, GAS2L3, and ZFPM2. Among these, MUC16 encodes mucin family protein. The PRS model incorporated 932 and 740 genetic loci for young and old populations, respectively. A higher PRS score indicated a greater DED risk, with the top 5% of PRS individuals having a 10-fold higher risk. After integrating these covariates into the PRS model, the area under the receiver operating curve (AUROC) increased from 0.509 and 0.537 to 0.600 and 0.648 for young and old populations, respectively, demonstrating the genetic-environmental interaction. Conclusions: Our study prompts potential candidates for the mechanism of DED and paves the way for more personalized medication in the future. Translational Relevance: Our study identified genes related to DED and constructed a PRS model to improve DED prediction.

Indexed as

Dry Eye SyndromesGenetic Predisposition to DiseaseGenome-Wide Association StudyMultifactorial InheritanceAdultAgedCase-Control StudiesFemaleGenetic Risk ScoreHumansMaleMiddle AgedPolymorphism, Single NucleotideRetrospective StudiesRisk AssessmentRisk Factors

Identifiers

PMID38767906
PMCPMC11114613

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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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 Socratic graph.