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Novel genetic associations with five aesthetic facial traits: A genome-wide association study in the Chinese population - PubMed

  • ️Sat Jan 01 2022

doi: 10.3389/fgene.2022.967684. eCollection 2022.

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Novel genetic associations with five aesthetic facial traits: A genome-wide association study in the Chinese population

Peiqi Wang et al. Front Genet. 2022.

Abstract

Background: The aesthetic facial traits are closely related to life quality and strongly influenced by genetic factors, but the genetic predispositions in the Chinese population remain poorly understood. Methods: A genome-wide association studies (GWAS) and subsequent validations were performed in 26,806 Chinese on five facial traits: widow's peak, unibrow, double eyelid, earlobe attachment, and freckles. Functional annotation was performed based on the expression quantitative trait loci (eQTL) variants, genome-wide polygenic scores (GPSs) were developed to represent the combined polygenic effects, and single nucleotide polymorphism (SNP) heritability was presented to evaluate the contributions of the variants. Results: In total, 21 genetic associations were identified, of which ten were novel: GMDS-AS1 (rs4959669, p = 1.29 × 10-49) and SPRED2 (rs13423753, p = 2.99 × 10-14) for widow's peak, a previously unreported trait; FARSB (rs36015125, p = 1.96 × 10-21) for unibrow; KIF26B (rs7549180, p = 2.41 × 10-15), CASC2 (rs79852633, p = 4.78 × 10-11), RPGRIP1L (rs6499632, p = 9.15 × 10-11), and PAX1 (rs147581439, p = 3.07 × 10-8) for double eyelid; ZFHX3 (rs74030209, p = 9.77 × 10-14) and LINC01107 (rs10211400, p = 6.25 × 10-10) for earlobe attachment; and SPATA33 (rs35415928, p = 1.08 × 10-8) for freckles. Functionally, seven identified SNPs tag the missense variants and six may function as eQTLs. The combined polygenic effect of the associations was represented by GPSs and contributions of the variants were evaluated using SNP heritability. Conclusion: These identifications may facilitate a better understanding of the genetic basis of features in the Chinese population and hopefully inspire further genetic research on facial development.

Keywords: aesthetics; facial trait; genome-wide association study; genome-wide polygenic score; widow’s peak.

Copyright © 2022 Wang, Sun, Miao, Mi, Cao, Zhao, Wang, Shu, Li, Xu, Bai and Zhang.

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Conflict of interest statement

Xinghan Sun and Hao Mi are employees of Chengdu 23Mofang Biotechnology. The remaining authors declare no competing interests. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1

Overview of the GWAS results. The five aesthetic facial traits studied in the Chinese study sample (top) are connected with the candidate genes identified in regions with novel genome-wide significant associations. The GWAS results of the five traits were summarized on a single composite Manhattan plot (bottom). The rs ID of the SNP with the smallest p-value at the top of each association peak is given. GWAS, genome-wide association study. SNP, single nucleotide polymorphism.

FIGURE 2
FIGURE 2

Manhattan plots of the discovery GWAS. Manhattan plot for (A) widow’s peak; (B) unibrow; (C) double eyelid; (D) earlobe attachment; (E) freckles. Bonferroni corrected threshold and candidate threshold correspond to 7.30 and 5.30, respectively, with regard to −log10 (P). Previously unreported SNPs are marked RED, previously reported SNPs are dotted ORANGE, and the SNPs failing validation are marked GREEN. GWAS, genome-wide association study. SNP, single nucleotide polymorphism.

FIGURE 3
FIGURE 3

Regional association plots for eight regions with novel SNPs showing genome-wide significant associations with the five facial traits. Two novel associations for widow’s peak and novel associations with the smallest p-values for unibow, double, eyelid, earlobe attachment, and freckles are shown (A) and (B), Regional association plot for (A) 6p25.2 and (B) 2p14 with novel SNP showing genome-wide significant association with widow’s peak; (C) regional association plot for 2q36.1 showing association with unibrow; (D) regional association plot for 1q44 showing association with double eyelid; (E) regional association plot for 16q22.3 showing association with earlobe attachment; (F) regional association plot for 16q24.3 showing association with freckles. SNP, single nucleotide polymorphism.

FIGURE 4
FIGURE 4

Prevalence of the traits according to the GPS quantile. 20 groups of the validation were derived based on the percentile of the GPS. Prevalence of phenotype displayed for the risk of (A) widow’s peak, (B) unibrow, (C) double eyelid, (D) earlobe attachment, and (E) freckles, within each quantile. GPS, genome-wide polygenic score.

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References

    1. Adhikari K., Reales G., Smith A. J. P., Konka E., Palmen J., Quinto-Sanchez M., et al. (2015). A genome-wide association study identifies multiple loci for variation in human ear morphology. Nat. Commun. 6, 7500. 10.1038/ncomms8500 - DOI - PMC - PubMed
    1. Adhikari K., Fontanil T., Cal S., Mendoza-Revilla J., Fuentes-Guajardo M., Chacón-Duque J.-C., et al. (2016). A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat. Commun. 7 (1), 10815. 10.1038/ncomms10815 - DOI - PMC - PubMed
    1. Adhikari K., Mendoza-Revilla J., Sohail A., Fuentes-Guajardo M., Lampert J., Chacón-Duque J. C., et al. (2019). A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia. Nat. Commun. 10 (1), 358. 10.1038/s41467-018-08147-0 - DOI - PMC - PubMed
    1. Asgari M. M., Wang W., Ioannidis N. M., Itnyre J., Hoffmann T., Jorgenson E., et al. (2016). Identification of susceptibility loci for cutaneous squamous cell carcinoma. J. Investigative Dermatol. 136 (5), 930–937. 10.1016/j.jid.2016.01.013 - DOI - PMC - PubMed
    1. Bataille V., Snieder H., MacGregor A. J., Sasieni P., Spector T. D. (2000). Genetics of risk factors for melanoma: an adult twin study of nevi and freckles. J. Natl. Cancer Inst. 92 (6), 457–463. 10.1093/jnci/92.6.457 - DOI - PubMed

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