Is a Genetic Variant associated with Bipolar Disorder Frequent in People without Bipolar Disorder but with Characteristics of Hyperactivity and Novelty Seeking?

Goce Kalcev1, *, Alessandra Scano2, Germano Orrù2, Diego Primavera3, Giulia Cossu4, Antonio Egidio Nardi5, Mauro Giovanni Carta4
1 Department of Innovation Sciences and Technology, University of Cagliari, Cagliari, Italy
2 Department of Surgical Sciences, University of Cagliari, Cagliari, Italy
3 Azienda Regionale della Salute (ARES, Sardegna), Medio Campidano, University of Cagliari, Cagliari, Italy
4 Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy
5 Laboratory Panic and Respiration, Institute of Psychiatry (Ipub), Federal University of Rio De Janeiro (Ufrj), Rio De Janeiro, Brazil

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© 2023 Kalcev et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at the Department of Innovation Sciences and Technologies, University of Cagliari, Cagliari, Italy; E-mail:



The objective is to verify whether a genetic condition associated with bipolar disorder (BD) is frequent in old adults adapted to their environment, without BD, but with aptitudes for hyperactivity and novelty seeking (H/NS).


In this cross-sectional study, the study sample included healthy elderly people (40 participants, aged 60 or older) living in an urban area and recruited from a previous study on physical exercise and active aging, who were compared with 21 old adults with BD from the same area. The genetic methodology consisted of blood sampling, DNA extraction, real-time PCR jointly with FRET probes, and the SANGER sequencing method. The genetic variant RS1006737 of CACNA1C, found to be associated with bipolar disorder diagnosis, was investigated.


The frequency of the RS1006737 genetic variant in the study group (H/NS) is not higher than in the BD group and is statistically significantly higher than in all the control groups found in the literature. However, the familiarity for BD is higher in old adults with BD than in the H/NS sample without BD. The risk of BD in the family (also considering those without BD but with family members with BD) is not associated with the presence of the genetic variant examined.


The study suggests that the gene examined is associated with characteristics of hyperactivity rather than just BD. Nevertheless, choosing to participate in an exercise program is an excessively general way to identify H/NS. The next step would be to identify the old adults with well-defined H/NS features with an adequate tool.

Keywords: Familiarity, Risk, Bipolar disorder, Hyperactivity, Novelty seeking, CACNA1C gene.