SNPs Associated With Testosterone Levels Influence Human Facial Morphology

Jasmien Roosenboom; Karlijne Indencleef; Myoung Keun Lee; Hanne Hoskens; Julie D White; Dongjing Liu; Jacqueline T Hecht; George L Wehby; Lina M Moreno; Carolyn Hodges-Simeon; Eleanor Feingold; Mary L Marazita; Stephen Richmond; Mark D Shriver; Peter Claes; John R Shaffer; Seth M Weinberg

doi:10.3389/fgene.2018.00497

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SNPs Associated With Testosterone Levels Influence Human Facial Morphology

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SNPs Associated With Testosterone Levels Influence Human Facial Morphology

Jasmien Roosenboom, Karlijne Indencleef, Myoung Keun Lee, Hanne Hoskens, Julie D White, Dongjing Liu, Jacqueline T Hecht, George L Wehby, Lina M Moreno, Carolyn Hodges-Simeon, …

Frontiers in genetics, Vol.9, pp.497-497

10/23/2018

DOI: 10.3389/fgene.2018.00497

PMCID: PMC6206510

PMID: 30405702

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Abstract

Many factors influence human facial morphology, including genetics, age, nutrition, biomechanical forces, and endocrine factors. Moreover, facial features clearly differ between males and females, and these differences are driven primarily by the influence of sex hormones during growth and development. Specific genetic variants are known to influence circulating sex hormone levels in humans, which we hypothesize, in turn, affect facial features. In this study, we investigated the effects of testosterone-related genetic variants on facial morphology. We tested 32 genetic variants across 22 candidate genes related to levels of testosterone, sex hormone-binding globulin (SHGB) and dehydroepiandrosterone sulfate (DHEAS) in three cohorts of healthy individuals for which 3D facial surface images were available (Pittsburgh 3DFN, Penn State and ALSPAC cohorts; total n = 7418). Facial shape was described using a recently developed extension of the dense-surface correspondence approach, in which the 3D facial surface was partitioned into a set of 63 hierarchically organized modules. Each variant was tested against each of the facial surface modules in a multivariate genetic association-testing framework and meta-analyzed. Additionally, the association between these candidate SNPs and five facial ratios was investigated in the Pittsburgh 3DFN cohort. Two significant associations involving intronic variants of SHBG were found: both rs12150660 ( p = 1.07E-07) and rs1799941 ( p = 6.15E-06) showed an effect on mandible shape. Rs8023580 (an intronic variant of NR2F2-AS1 ) showed an association with the total and upper facial width to height ratios ( p = 9.61E-04 and p = 7.35E-04, respectively). These results indicate that testosterone-related genetic variants affect normal-range facial morphology, and in particular, facial features known to exhibit strong sexual dimorphism in humans.

testosterone

Genetics

ALSPAC

facial morphology

candidate SNP

SHBG

facial ratio

Details

Title: Subtitle: SNPs Associated With Testosterone Levels Influence Human Facial Morphology
Creators: Jasmien Roosenboom - Department of Oral Biology, Center for Craniofacial and Dental Genetics, University of Pittsburgh
Karlijne Indencleef - ESAT-PSI, Department of Electrical Engineering, Medical Imaging Research Center, KU Leuven
Myoung Keun Lee - Department of Oral Biology, Center for Craniofacial and Dental Genetics, University of Pittsburgh
Hanne Hoskens - ESAT-PSI, Department of Electrical Engineering, Medical Imaging Research Center, KU Leuven
Julie D White - Department of Anthropology, Penn State University
Dongjing Liu - Department of Human Genetics, University of Pittsburgh
Jacqueline T Hecht - Department of Pediatrics, University of Texas McGovern Medical Center
George L Wehby - Department of Health Management and Policy, University of Iowa
Lina M Moreno - Department of Orthodontics, University of Iowa
Carolyn Hodges-Simeon - Department of Anthropology, Boston University
Eleanor Feingold - Department of Human Genetics, University of Pittsburgh
Mary L Marazita - Department of Oral Biology, Center for Craniofacial and Dental Genetics, University of Pittsburgh
Stephen Richmond - Applied Clinical Research and Public Health, School of Dentistry, Cardiff University, College of Biomedical and Life Sciences
Mark D Shriver - Department of Anthropology, Penn State University
Peter Claes - ESAT-PSI, Department of Electrical Engineering, Medical Imaging Research Center, KU Leuven
John R Shaffer - Department of Oral Biology, Center for Craniofacial and Dental Genetics, University of Pittsburgh
Seth M Weinberg - Department of Oral Biology, Center for Craniofacial and Dental Genetics, University of Pittsburgh
Resource Type: Journal article
Publication Details: Frontiers in genetics, Vol.9, pp.497-497
DOI: 10.3389/fgene.2018.00497
PMID: 30405702
PMCID: PMC6206510
NLM abbreviation: Front Genet
ISSN: 1664-8021
eISSN: 1664-8021
Publisher: Frontiers Media S.A
Language: English
Date published: 10/23/2018
Academic Unit: Preventive and Community Dentistry; Orthodontics; Health Management and Policy; Economics; Craniofacial Anomalies Research Center; Public Policy Center (Archive); Dental Research
Record Identifier: 9984065706202771

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