Evidence map›Paper›PMID 41477839›Full record

ArticleScience advances2026

Genome-wide association study reveals genetic architecture and evolution of human retinal pigmentation.

Jian Yuan, Yue Zhang, Yinghao Yao, Shasha Li, Jiacheng Liang, Wei Dai, Jiaying Yang, Mengyao Liu, Qinyi Zhang, Yao Zhou and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Science advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Association Between Polymorphisms of 4 Common Genes and High Myopia Risk: A Comprehensive Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2026
    Pooled it
  2. 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

18 authors.

Jian YuanState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.ORCID 0000-0002-1896-2561
Yue ZhangState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.ORCID 0009-0008-2493-0233
Yinghao YaoState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.
Shasha LiOujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Wenzhou 325101, Zhejiang, China.ORCID 0000-0002-2166-950X
Jiacheng LiangState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.ORCID 0009-0005-3869-8189
Wei DaiState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.ORCID 0000-0002-2210-2599
Jiaying YangState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.
Mengyao LiuDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.
Qinyi ZhangState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.ORCID 0009-0009-5340-1418
Yao ZhouState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.ORCID 0009-0008-7959-5882
Jiahang LiState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.ORCID 0009-0006-1728-6967
Hui LiuState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.ORCID 0000-0003-0444-5579
Zhen Ji ChenState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.
Myopia Associated Genetics and Intervention Consortium
Stuart MacGregorStatistical Genetics Lab, QIMR Berghofer Medical Research Institute, Herston, Brisbane, QLD 4006, Australia.ORCID 0000-0001-6731-8142
Jia QuState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.ORCID 0000-0002-5712-5248
Xikun HanDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.ORCID 0000-0002-3823-7308
Jianzhong SuState Key Laboratory of Eye Health, Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.ORCID 0000-0003-1054-6042

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pigmentation varies widely across humans and is shaped by melanin quantity, type, and spatial distribution. Retinal pigmentation protects against light-induced damage, yet its genetic and evolutionary bases remain unclear. We developed a deep learning framework (DeepGRP) to quantify retinal pigmentation from high-resolution fundus images and conducted a genome-wide association study (GWAS), identifying 42 signals, including 26 previously unidentified loci, with single-nucleotide polymorphism-based heritability of 21.4%. Single-nucleus assay for transposase-accessible chromatin by sequencing and RNA sequencing of human fetal retinal tissues revealed key cellular contributors, including retinal pigment epithelium and photoreceptor cells. Among candidate genes,

Indexed as

Evolution, MolecularGenome-Wide Association StudyPigmentationRetinaDeep LearningGenetic Predisposition to DiseaseGTPase-Activating ProteinsHumansMultifactorial InheritancePolymorphism, Single NucleotideRetinal Pigment EpitheliumGTPase-Activating Proteins

Identifiers

PMID41477839
PMCPMC12757036

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.