Temperament traits mediate the relationship between CACNA1C polymorphisms and bipolar disorder in cisgender women

Bastos, Clarissa Ribeiro; Bock, Bertha Bueno; Xavier, Janaína Reis; Camerini, Laísa; Dewes, Samantha Seibt; Grellert, Mateus; Carvalho, Hudson W. de; Jansen, Karen; Silva, Ricardo Azevedo da; Pinheiro, Ricardo Tavares; Souza, Luciano D.M.; Oses, Jean Pierre; Portela, Luis Valmor Cruz; Lara, Diogo R.; Tovo‐Rodrigues, Luciana; Ghisleni, Gabriele

doi:10.1007/s00406-022-01493-7

Cited by 1 publication

(1 citation statement)

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“…In following the “clinical road” exclusively, the result is strongly influenced by different factors such as the patient cohort used, i.e., number of patients, age, and in particular, the methodology to diagnosis, executed in different clinical reports with different approaches [ 51 ]. Furthermore, these studies did not report the role of other genome mutations able to interfere with the primary function of this SNP [ 52 ]. However, an exhaustive representation of the mutation rs1006737 should be integrated with reconstruction experiments in animal models, or in vitro by cell cultures able to define the impact of mutation function without other biological interferences following an approach of “translational genomics” for mood disorders [ 53 ].…”

Section: Discussionmentioning

confidence: 99%

Screening, Genetic Variants, and Bipolar Disorders: Can Useful Hypotheses Arise from the Sum of Partial Failures?

Carta,

Kalcev,

Scano

et al. 2023

Clinics and Practice

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Bipolar disorder (BD) is a relevant public health issue, therefore accurate screening tools could be useful. The objective of this study is to verify the accuracy of the Mood Disorder Questionnaire (MDQ) and genetic risk as screeners, and their comparison in terms of reliability. Older adults (N = 61, ≥60 years) received a clinical psychiatric evaluation, the MDQ, and were evaluated according to the presence of the genetic variant RS1006737 of CACNA1C. MDQ+ versus the diagnosis of BD as a gold standard shows a sensitivity of 0.286 (Cl 95% 0.14–0.39); a specificity of 0.925 (Cl 95% 0.85–0.08); a predictive positive value (PPV) of 0.667 (Cl 95% 0.33–0.91); and a predictive negative value (PNV) of 0.702 (Cl 95% 0.65–0.75). The positivity for the variant RS1006737 of the CACNA1C against the diagnosis of BD as a gold standard shows a sensitivity of 0.750 (Cl 95% 0.55–0.90); a specificity of 0.375 (Cl 95% 0.28–0.45); a PPV of 0.375 (Cl 95% 0.28–0.45); and a PNV of 0.750 (Cl 95% 0.55–0.90). The reliability between the MDQ+ and positivity for the variant RS1006737 of the CACNA1C was very low (K = −0.048, Cl 95% −0.20–0.09). The study found that both the genetic and the paper and pencil test were quite accurate, but were not reliable in case finding. In fact, despite some validity, albeit specular (in the case of a positive genetic test, the probability of having the disorder is very high, whereas in the case of a negative score on the paper and pencil test, the probability of not having the disorder is very high), the unreliability of the two tests (i.e., they certainly do not measure the same underlying dimension) opens the door to the need for an interpretation and the possibility of a synergistic use for screening. From a heuristic perspective, which obviously requires all of the necessary verifications, this study seems to suggest the hypothesis that a condition of hyperactivation common to disorders and stress conditions, and identified by a positive score on the MDQ (which is common to BD, post-traumatic stress disorder (PTSD), and anxiety disorders and whose genetic basis has not yet been clarified) can trigger BD in people with a predisposition to hyperactivity (i.e., in people with the condition identified by the analyzed genetic variant).

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Section: Discussionmentioning

confidence: 99%