Limb Development Genes Underlie Variation in Human Fingerprint Patterns —Pleiotropic Effects of Limb Development and Fingerprint Patterning

LI Jinxi^1,2, ZHANG Haiguo^3,4, JIN Li^1,2, WANG Sijia²*

¹State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, and Human Phenome Institute, Fudan University, Shanghai 200438, China; ²CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China; ³Ministry of Education Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, China; ⁴School of Basic Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China)

Abstract:

Fingerprints are of longstanding practical and cultural interest, but little is known about the mechanisms that underlie their variation. Using genome-wide scans in Han Chinese cohorts, this study identified 18 loci associated with fingerprint type across the digits, including a genetic basis for the long-recognized “patternblock” correlations among the middle three digits. In particular, it identified a variant near EVI1 that alters regulatory activity and established a role for EVI1/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 in general limb development pathways. This study 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.

CSTR: 32200.14.cjcb.2022.07.0001