Active: Facial morphology Clear all

GWAS 2025-10-11

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.

Dack K, Ludwig KU et al.

Hum Mol Genet

Several genome wide association studies (GWASs) of orofacial cleft have been conducted. However only...

Orofacial clefts

10181

Participants

N/A

Studies

Details PubMed

GWAS 2023-09-19

A genome-wide association scan reveals novel loci for facial traits of Koreans.

Cho HW, Ban HJ et al.

Genomics

DNA-based prediction of externally visible characteristics (EVC) with SNPs is one of the research ar...

Facial trait (Metopion eminence depth)

4179

Participants

N/A

Studies

Details PubMed

GWAS 2023-05-08

Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.

Li Q, Chen J et al.

Commun Biol

We report a genome-wide association study of facial features in >6000 Latin Americans based on au...

Facial morphology (D10)

Replicated

25032

Participants

N/A

Studies

Details PubMed

GWAS 2023-04-25

Effect of genetic variants in UBE2O and TPK1 on facial morphology of Koreans.

Cho HW, Ban HJ et al.

Forensic Sci Res

Human face is a highly heritable and complex trait. Many genome-wide analyses have identified geneti...

Facial morphology (Metopion position ratio)

4179

Participants

N/A

Studies

Details PubMed

GWAS 2023-04-06

Precise modulation of transcription factor levels identifies features underlying dosage sensitivity.

Naqvi S, Kim S et al.

Nat Genet

Transcriptional regulation exhibits extensive robustness, but human genetics indicates sensitivity t...

Pierre Robin Sequence endophenotypic score

8246

Participants

N/A

Studies

Details PubMed

GWAS 2022-12-20

Combining genome-wide association studies highlight novel loci involved in human facial variation.

Xiong Z, Gao X et al.

Nat Commun

Standard genome-wide association studies (GWASs) rely on analyzing a single trait at a time. However...

Facial morphology (multitrait analysis)

Replicated

23737

Participants

N/A

Studies

Details PubMed

GWAS 2022-04-07

Genetic variants underlying differences in facial morphology in East Asian and European populations.

Zhang M, Wu S et al.

Nat Genet

Facial morphology-a conspicuous feature of human appearance-is highly heritable. Previous studies on...

Facial appearance

Replicated

9674

Participants

N/A

Studies

Details PubMed

GWAS 2021-11-15

Genetic architecture of orbital telorism.

Knol MJ, Pawlak MA et al.

Hum Mol Genet

The interocular distance, or orbital telorism, is a distinctive craniofacial trait that also serves ...

Orbital telorism

34130

Participants

N/A

Studies

Details PubMed

GWAS 2021-08-19

Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations.

Liu C, Lee MK et al.

PLoS Genet

Facial morphology is highly variable, both within and among human populations, and a sizable portion...

Facial morphology (segment 26)

2595

Participants

N/A

Studies

Details PubMed

GWAS 2021-08-09

PRICKLE1 × FOCAD Interaction Revealed by Genome-Wide vQTL Analysis of Human Facial Traits.

Liu D, Ban HJ et al.

Front Genet

The human face is a highly complex and variable structure resulting from the intricate coordination ...

Cranial base width

Replicated

7575

Participants

N/A

Studies

Details PubMed

GWAS 2021-02-22

The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation.

Indencleef K, Hoskens H et al.

Front Genet

Unaffected relatives of individuals with non-syndromic cleft lip with or without cleft palate (NSCL/...

Facial morphology traits (59 NSCL/P endophenotypic segments)

8246

Participants

N/A

Studies

Details PubMed

GWAS 2021-02-05

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.

Bonfante B, Faux P et al.

Sci Adv

To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide ...

Facial morphology (forehead protrusion 1)

6169

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.

Dack K, Ludwig KU et al.

Hum Mol Genet

Orofacial clefts

2025-10-11

A genome-wide association scan reveals novel loci for facial traits of Koreans.

Cho HW, Ban HJ et al.

Genomics

Facial trait (Metopion eminence depth)

2023-09-19

Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.

Li Q, Chen J et al.

Commun Biol

Facial morphology (D10)

2023-05-08

Effect of genetic variants in UBE2O and TPK1 on facial morphology of Koreans.

Cho HW, Ban HJ et al.

Forensic Sci Res

Facial morphology (Metopion position ratio)

2023-04-25

Precise modulation of transcription factor levels identifies features underlying dosage sensitivity.

Naqvi S, Kim S et al.

Nat Genet

Pierre Robin Sequence endophenotypic score

2023-04-06

Combining genome-wide association studies highlight novel loci involved in human facial variation.

Xiong Z, Gao X et al.

Nat Commun

Facial morphology (multitrait analysis)

2022-12-20

Genetic variants underlying differences in facial morphology in East Asian and European populations.

Zhang M, Wu S et al.

Nat Genet

Facial appearance

2022-04-07

Genetic architecture of orbital telorism.

Knol MJ, Pawlak MA et al.

Hum Mol Genet

Orbital telorism

2021-11-15

Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations.

Liu C, Lee MK et al.

PLoS Genet

Facial morphology (segment 26)

2021-08-19

PRICKLE1 × FOCAD Interaction Revealed by Genome-Wide vQTL Analysis of Human Facial Traits.

Liu D, Ban HJ et al.

Front Genet

Cranial base width

2021-08-09

The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation.

Indencleef K, Hoskens H et al.

Front Genet

Facial morphology traits (59 NSCL/P endophenotypic segments)

2021-02-22

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.

Bonfante B, Faux P et al.

Sci Adv

Facial morphology (forehead protrusion 1)

2021-02-05

Health & Traits Publications

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.

A genome-wide association scan reveals novel loci for facial traits of Koreans.

Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.

Effect of genetic variants in <i>UBE2O</i> and <i>TPK1</i> on facial morphology of Koreans.

Precise modulation of transcription factor levels identifies features underlying dosage sensitivity.

Combining genome-wide association studies highlight novel loci involved in human facial variation.

Genetic variants underlying differences in facial morphology in East Asian and European populations.

Genetic architecture of orbital telorism.

Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations.

<i>PRICKLE1</i> × <i>FOCAD</i> Interaction Revealed by Genome-Wide vQTL Analysis of Human Facial Traits.

The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation.

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.