Limb development genes underlie variation in human fingerprint patterns

Area of Science:

• Genetics
• Developmental Biology
• Human Variation

Background:

• Fingerprint variation has long been recognized but poorly understood at a mechanistic level.
• Previous research lacked comprehensive genetic insights into the determinants of fingerprint patterns.

Purpose of the Study:

• To identify genetic loci associated with fingerprint types and patterns.
• To investigate the role of specific genes, such as EVI1, in dermatoglyphic variation.
• To explore the genetic correlation between fingerprint patterns and hand proportions.

Main Methods:

• Genome-wide association studies (GWAS) were conducted in Han Chinese cohorts.
• A trans-ethnic meta-analysis was performed to identify additional associated loci.
• Gene expression analysis and mouse models were used to investigate the function of candidate genes.

Main Results:

• 18 loci associated with fingerprint type were identified in Han Chinese cohorts.
• A variant near the EVI1 gene was linked to altered regulatory activity and dermatoglyph patterning in mice.
• Trans-ethnic meta-analysis identified 43 fingerprint-associated loci, enriched for limb development pathways.
• Genetic correlations were found between fingerprint patterns and hand proportions.

Conclusions:

• Limb development genes play a crucial role in determining fingerprint patterns.
• The study provides a genetic basis for observed correlations in fingerprint patterns.
• EVI1 is implicated in dermatoglyph patterning, with expression dynamics suggesting a role in limb and digit shaping.