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SNPs Associated With Testosterone Levels Influence Human Facial Morphology
Jasmien Roosenboom1, Karlijne Indencleef2, Myoung Keun Lee1
1Department of Oral Biology, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA, United States.
Frontiers in Genetics
|November 9, 2018
Summary
Genetic variants linked to testosterone influence human facial shape. Specific gene variants, particularly in SHBG and NR2F2-AS1, were associated with mandible and facial width-to-height ratios. This reveals a genetic basis for facial morphology differences.
Area of Science:
- Human genetics
- Facial morphology
- Endocrinology
Background:
- Human facial morphology is influenced by genetics, hormones, and environmental factors.
- Sexual dimorphism in facial features is primarily driven by sex hormones during development.
- Genetic variants affecting sex hormone levels may consequently impact facial structure.
Purpose of the Study:
- To investigate the effects of testosterone-related genetic variants on human facial morphology.
- To identify specific genetic variants associated with variations in facial shape and proportions.
Main Methods:
- Analyzed 32 genetic variants across 22 candidate genes related to testosterone, SHBG, and DHEAS.
- Utilized 3D facial surface imaging data from three large cohorts (total n = 7418).
- Employed a dense-surface correspondence approach to partition facial surfaces into 63 modules for analysis.
- Conducted multivariate genetic association testing and meta-analysis, including investigation of facial ratios.
Main Results:
- Two intronic variants in the SHBG gene (rs12150660 and rs1799941) were significantly associated with mandible shape.
- An intronic variant in NR2F2-AS1 (rs8023580) showed association with total and upper facial width-to-height ratios.
- These findings highlight genetic influences on normal-range facial morphology, particularly features with sexual dimorphism.
Conclusions:
- Testosterone-related genetic variants play a role in shaping normal human facial morphology.
- Specific genetic variants in SHBG and NR2F2-AS1 are linked to distinct facial features, including mandibular shape and facial proportions.
- This research provides insights into the genetic underpinnings of facial sexual dimorphism.
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