information:extraction
Genetics

Consensus within the scientific community suggests that the dermatoglyphic patterns on fingertips are hereditary. The fingerprint patterns between monozygotic twins have been shown to be very similar (though not identical), whereas dizygotic twins have considerably less similarity. Significant heritability has been identified for 12 dermatoglyphic characteristics. Current models of dermatoglyphic trait inheritance suggest Mendelian transmission with additional effects from either additive or dominant major genes.

Whereas genes determine the general characteristics of patterns and their type, the presence of environmental factors result in the slight differentiation of each fingerprint. However, the relative influences of genetic and environmental effects on fingerprint patterns are generally unclear. One study has suggested that roughly 5% of the total variability is due to small environmental effects, although this was only performed using total ridge count as a metric. Several models of finger ridge formation mechanisms that lead to the vast diversity of fingerprints have been proposed. One model suggests that a buckling instability in the basal cell layer of the fetal epidermis is responsible for developing epidermal ridges. Additionally, blood vessels and nerves may also serve a role in the formation of ridge configurations. Another model indicates that changes in amniotic fluid surrounding each developing finger within the uterus cause corresponding cells on each fingerprint to grow in different microenvironments. For a given individual, these various factors affect each finger differently, preventing two fingerprints from being identical while still retaining similar patterns.

It is important to note that the determination of fingerprint inheritance is made difficult by the vast diversity of phenotypes. Classification of a specific pattern is often subjective (lack of consensus on the most appropriate characteristic to measure quantitatively) which complicates analysis of dermatoglyphic patterns. Several modes of inheritance have been suggested and observed for various fingerprint patterns. Total fingerprint ridge count, a commonly used metric of fingerprint pattern size, has been suggested to have a polygenic mode of inheritance and is influenced by multiple additive genes. This hypothesis has been challenged by other research, however, which indicates that ridge counts on individual fingers are genetically independent and lack evidence to support the existence of additive genes influencing pattern formation. Another mode of fingerprint pattern inheritance suggests that the arch pattern on the thumb and on other fingers are inherited as an autosomal dominant trait. Further research on the arch pattern has suggested that a major gene or multifactorial inheritance is responsible for arch pattern heritability. A separate model for the development of the whorl pattern indicates that a single gene or group of linked genes contributes to its inheritance. Furthermore, inheritance of the whorl pattern does not appear to be symmetric in that the pattern is seemingly randomly distributed among the ten fingers of a given individual. In general, comparison of fingerprint patterns between left and right hands suggests an asymmetry in the effects of genes on fingerprint patterns, although this observation requires further analysis.

In addition to proposed models of inheritance, specific genes have been implicated as factors in fingertip pattern formation (their exact mechanism of influencing patterns is still under research). Multivariate linkage analysis of finger ridge counts on individual fingers revealed linkage to chromosome 5q14.1 specifically for the ring, index, and middle fingers. In mice, variants in the gene EVI1 were correlated with dermatoglyphic patterns. EVI1 expression in humans does not directly influence fingerprint patterns but does affect limb and digit formation which in turn may play a role in influencing fingerprint patterns. Genome-wide association studies found single nucleotide polymorphisms within the gene ADAMTS9-AS2 on 3p14.1, which appeared to have an influence on the whorl pattern on all digits. This gene encodes antisense RNA which may inhibit ADAMTS9, which is expressed in the skin. A model of how genetic variants of ADAMTS9-AS2 directly influence whorl development has not yet been proposed.

In February 2023, a study identified WNT, BMP and EDAR as signaling pathways regulating the formation of primary ridges on fingerprints, with the first two having an opposite relationship established by a Turing reaction-diffusion system.