Eye color prediction using single nucleotide polymorphisms in Saudi population.

Area of Science:

• Forensic Genetics
• Human Molecular Genetics
• Population Genetics

Background:

• DNA forensic phenotyping uses externally visible characteristics (EVCs) to identify suspects without direct DNA comparison.
• Existing DNA-based eye color prediction panels show variable accuracy across populations and have not been validated in Middle Eastern or North African populations.
• This study addresses the need for population-specific genetic markers for eye color prediction in the Saudi Arabian population.

Purpose of the Study:

• To investigate the association of single nucleotide polymorphisms (SNPs) with eye color in a Saudi cohort.
• To develop and validate a DNA-based prediction model for eye color in the Saudi population.
• To assess the prediction accuracy of the model for different eye colors.

Main Methods:

• Eleven SNPs were genotyped in 80 Saudi volunteers to determine their association with brown, hazel, and intermediate eye colors.
• SNP and haplotype association tests were conducted to identify significant markers.
• A multinomial logistic regression model was built using a training set (60 subjects) and validated on a separate set (20 subjects).

Main Results:

• Three SNPs (rs12913832, rs7170852, rs916977) within the HERC2 gene showed significant association with eye color.
• SNP rs12913832 was the most significant predictor (p-value = 1.78E-15).
• A five-SNP model achieved high prediction accuracy for brown (AUC=0.95) and intermediate (AUC=0.83) eye colors, but underperformed for hazel (AUC=0.75).

Conclusions:

• Significant associations between specific SNPs and eye color were identified in the Saudi population.
• The developed DNA prediction model demonstrates high accuracy for brown and intermediate eye colors.
• Further research with larger sample sizes and additional SNPs is recommended to improve prediction accuracy for hazel eye color.