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Fingerprints are of long-standing practical and cultural interest, but little is known about the mechanisms that underlie their variation. Using genome-wide scans in Han Chinese cohorts, we identified 18 loci associated with fingerprint type across the digits, including a genetic basis for the long-recognized "pattern-block" correlations among the middle three digits. In particular, we identified a variant near EVI1 that alters regulatory activity and established a role for EVI1 in dermatoglyph patterning in mice. Dynamic EVI1 expression during human development supports its role in shaping the limbs and digits, rather than influencing skin patterning directly. Trans-ethnic meta-analysis identified 43 fingerprint-associated loci, with nearby genes being strongly enriched for general limb development pathways. We also found that fingerprint patterns were genetically correlated with hand proportions. Taken together, these findings support the key role of limb development genes in influencing the outcome of fingerprint patterning.

Original publication




Journal article



Publication Date





95 - 112.e18


EVI1, fingerprint pattern, genetics, genome-wide association study, limb development, trans-ethnic meta-analysis, Adolescent, Adult, Aged, Aged, 80 and over, Animals, Asians, Body Patterning, Child, Cohort Studies, Dermatoglyphics, Female, Fingers, Forelimb, Genetic Loci, Genome-Wide Association Study, Humans, MDS1 and EVI1 Complex Locus Protein, Male, Mice, Middle Aged, Organogenesis, Polymorphism, Single Nucleotide, Toes, Young Adult