DNA-based eyelid trait prediction in Chinese Han population

Area of Science:

• Genetics
• Forensic Science
• Anthropology

Background:

• Eyelid folding, specifically the presence or absence of an eyelid crease (single vs. double eyelid), is a key distinguishing feature in East Asian facial morphology.
• Previous genome-wide association studies (GWAS) identified specific single nucleotide polymorphisms (SNPs) associated with the double eyelid phenotype in Japanese populations.

Purpose of the Study:

• To confirm the association of previously identified SNPs with the double eyelid trait in a Chinese Han population.
• To develop and evaluate a DNA-based prediction model for eyelid folding in Chinese individuals.
• To explore the potential of genetic markers for forensic DNA phenotyping.

Main Methods:

• Confirmatory genetic analysis of SNPs rs12570134 and rs1415425 in 697 Chinese Han individuals.
• Development and evaluation of a logistic regression model for predicting eyelid traits using SNPs, gender, and age.
• Massive parallel sequencing of candidate genes to identify additional associated SNPs, followed by statistical analysis.

Main Results:

• SNP rs1415425 showed a statistically significant association with the double eyelid trait in the Chinese Han cohort, consistent with previous findings in Japanese populations.
• An initial prediction model incorporating rs1415425, gender, and age explained 10.0% of the variation in eyelid folding, with an Area Under the Curve (AUC) of 0.69.
• A second SNP, rs2761882, was also found to be statistically significant. The combined model with both SNPs, gender, and age improved predictive capacity (AUC = 0.72), explaining 11.2% of the total variation.

Conclusions:

• The study validates the association of specific genetic markers with eyelid folding in Chinese Han individuals, reinforcing findings from prior research.
• A DNA-based prediction model for eyelid traits was successfully developed, demonstrating mild to moderate accuracy.
• The developed model holds potential for forensic DNA phenotyping, particularly when combined with age and gender estimation, though further research with larger GWAS is recommended to enhance predictive power.