Evidence map›Paper›PMID 40670343›Full record

ArticleNature communications2025

Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction.

Ziyi Xiong, Yi Li, Xianjing Liu, Haojie Lu, Pirro G Hysi, Luba M Pardo, Andre G Uitterlinden, Fernando Rivadeneira, M Arfan Ikram, Mohsen Ghanbari and 8 more

Abstract read
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Forensic genetics in the omics era.Nature reviews. Genetics · 2026
    Review
  4. Article
  5. 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.

Ziyi Xiong *Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.
Yi Li *CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai, China.ORCID http://orcid.org/0000-0002-2448-9176
Xianjing LiuDepartment of Radiology and Nuclear Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-2554-5168
Haojie LuDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0001-7857-1629
Pirro G HysiDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID http://orcid.org/0000-0001-5752-2510
Luba M PardoDepartment of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-0684-3175
Andre G UitterlindenDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-7276-3387
Fernando RivadeneiraDepartment of Oral & Maxillofacial Surgery, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0001-9435-9441
M Arfan IkramDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-0372-8585
Mohsen GhanbariDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-9476-7143
Eppo B WolviusDepartment of Oral & Maxillofacial Surgery, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.
Gennady V RoshchupkinDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-3403-2313
Stephen RichmondApplied Clinical Research and Public Health, School of Dentistry, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-5449-5318
Tamar NijstenDepartment of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0001-9940-2875
Timothy D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID http://orcid.org/0000-0002-9795-0365
Sijia WangCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai, China.ORCID http://orcid.org/0000-0001-6961-7867
Fan LiuDepartment of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands. f.liu@erasmusmc.nl.
Manfred KayserDepartment of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands. m.kayser@erasmusmc.nl.ORCID http://orcid.org/0000-0002-4958-847X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Facial appearance, one of the most recognizable and heritable human traits, exhibits substantial variation across individuals within and between populations due to its complex genetic underpinning, which remains largely elusive. Here, we report a combined genome-wide association study (C-GWAS) of 946 facial features derived from 44 landmarks obtained from 3D digital facial images of 11,662 individuals of European descent. We identify 253 unlinked single nucleotide polymorphisms (SNPs) across 188 distinct genetic loci significantly associated with facial variation, including 64 SNPs at 62 novel loci and 33 novel SNPs within 29 previously reported face loci that are in very low LD with the previously reported top SNPs. Together, these SNPs account for up to 7.9% of the facial variation per trait, marking an average 2.25-fold increase over previous estimates. Cross-ancestry replication in 9,674 Chinese confirms the effect of 70% of these SNPs. A 382-SNPs prediction model of five nose traits achieves an AUC of 0.67 for individual re-identification from nose images. DNA predicted faces of archaic humans differ more from those of Europeans than from Africans. In genetically modelled Neanderthal faces, 15 of 16 DNA-predicted facial features are in line with skull evidence. Ten DNA-predicted facial features differentiate Neanderthals from Denisovans. Overall, this study substantially enhances our genetic understanding of human facial variation and provides improvements of genetic face prediction in modern and archaic humans.

Indexed as

FaceGenome-Wide Association StudyWhite PeopleAdultAnimalsEuropean PeopleFemaleHumansMaleNeanderthalsPhenotypePolymorphism, Single Nucleotide

Identifiers

PMID40670343
PMCPMC12267858

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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.