Explained | Are Neanderthals to blame for the long and short of the human nose? Premium

A recent study used 2D images and measures of the distance between facial landmarks, computed in an automated fashion, in over 6,000 Latin American individuals as the basis for a genetic association study.

This article is part of a fortnightly column exploring contemporary concepts and issues in genetics.

The human nose is an intriguing feature that holds significance in various aspects of our lives. Beyond its practical function, to facilitate our breathing and sense of smell, the nose has long been associated with notions of beauty, deception, and other aspects of historical significance. Different cultures and societies have their own standards of beauty, and the shape, size, and proportion of the nose have often contributed to these ideals. We can also observe the importance of the nose in art, literature, and other remnants of ancient civilisations.

Identification of facial ‘landmarks’ and computing the distance between them has been one of the key ingredients of facial recognition, which is widely used around the world to recognise and identify faces, in biometric-based security services, and in a wide variety of other day-to-day applications – including, importantly, surveillance.

Computational methodologies that can automate these measurements to be faster and more efficient have been developed in recent years and are widely used. For example, the ‘DigiYatra’ application developed by the Government of India and launched in December 2022 is widely used in major airports in India to authenticate passengers’ check-ins.

A recent study – published in Communications Biology, led by researchers from the University College London and Fudan University and with contributions from researchers across the world – used 2D images and measures of the distance between facial landmarks, computed in an automated fashion, in over 6,000 Latin American individuals as the basis for a genetic association study.

This way, they identified 42 new genetic loci associated with the human nose. (A ‘locus’, plural ‘loci’, is the position of a particular gene on the human chromosome.) Of these, 26 could be replicated in other populations, including Asians, Europeans, and Africans. One of these loci included a location called 1q32.3 (short for chromosome 1, short arm, locus 32.3), which is associated with the height of the human nose.

This genetic locus was previously shown to have been contributed by the Neanderthals. The present study adds to this evidence, suggesting that specific variants in the genetic loci are associated with midface height. This chromosomal locus encodes for a gene named activating transcription factor 3 (ATF3) .