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Genetic determinism and hemispheric influence in hair whorl formation - 09/12/23

Doi : 10.1016/j.jormas.2023.101664 
Marjolaine Willems a, Quentin Hennocq b, Sara Tunon de Lara c, Nicolas Kogane a, Vincent Fleury d, Romy Rayssiguier e, Juan José Cortés Santander f, g, Roberto Requena f, g, Julien Stirnemann h, Roman Hossein Khonsari b,
a Department of Medical Genetics, Montpellier University Hospital, Montpellier, France 
b Department of Maxillofacial Surgery and Plastic Surgery, Necker – Enfants Malades University Hospital, AP-HP, Faculty of Medicine, Paris Cité University, Paris, France 
c Department of Maxillofacial Surgery and Stomatology, Bordeaux University Hospital, Bordeaux, France 
d Matter and Complex Systems Laboratory, CNRS, Paris Cité University, Paris, France 
e Department of Gynecology and Obstetrics, Montpellier University Hospital, Montpellier, France 
f Dr. Leonardo Guzman Regional Antofagasta Hospital, Antofagasta, Chile 
g Clinica Universitad de los Andes, Santiago, Chile 
h Department of Obstetrics and Fetal Medicine, Necker – Enfants Malades University Hospital, AP-HP, Faculty of Medicine, Paris Cité University, Paris, France 

Corresponding author at: Service de chirurgie maxillofaciale et chirurgie plastique, Hôpital Necker – Enfants Malades, 149 rue de Sèvres, 75015 Paris.Service de chirurgie maxillofaciale et chirurgie plastiqueHôpital Necker – Enfants Malades149 rue de Sèvres75015Paris

Abstract

Background

The mechanisms determining the laterality and the rotation direction of hair whorls are unknown. Here we report observations on twins investigating the genetic bases of whorl pattern formation. Knowing that vortex phenomena may depend on geographic effects, we also provide comparative data on whorls from children born in the Northern hemisphere (France) versus children born in the Southern hemisphere (Chile).

Material and methods

We retrospectively included children from three populations: (1) Northern hemisphere general population, (2) Southern hemisphere general population, and (3) same-sex Northern hemisphere twins. We recorded whorl rotation direction (clockwise, counterclockwise), whorl position (left, right, central) and twinning type. Univariate logistic models were used to screen for associations between rotation direction and whorl position. For twins, the variable of interest was binary, i.e. same rotation direction (reference class) or opposite directions for each twin pair. For controls, all single combinations were included as virtual twins, and compared to real twins. Odds ratios (OR) were compared for both hemispheres, for real twins and virtual (control) twins.

Results

Seventy-four (37 pairs) twins and 50 children from the general population of each hemisphere were included. The OR for opposite rotation directions between two twins was ≠1 (p = 0.017), meaning that whorls rotated preferentially in the same direction in twins. ORs were <1 for Northern and Southern hemispheres, meaning that whorls rotated preferentially in the same direction in simulated twins. OR for the Northern hemisphere (0.04 [0.03; 0.05]) was less than the OR for the Southern hemisphere (0.28 [0.24; 0.32]) with no confidence interval superimposition, indicating than counterclockwise whorls were more frequent in the Southern hemisphere (p < 0.001).

Conclusions

We suggest that hair whorl formation is a genetically determined developmental process that can be influenced by extrinsic environmental factors. Our results furthermore underline the general importance of studies focused on limit phenomena that can provide insights on general developmental mechanisms. We plead for large-scale epidemiological assessments of hair whorls in several Northern and Southern hemisphere populations to confirm these surprising findings suggesting significant modulations of craniofacial development by geographic effects.

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Keywords : Twins, Hair whorls, Epigenetics, Craniofacial development, Phase transition


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