Strong Genetic Overlaps Between Dimensional and Categorical Models of Bipolar Disorders in a Family Sample

Arbona-Lampaya, Alejandro; Sung, Heejong; D'Amico, Alexander; Knowles, Emma; Besancon, Emily; Freifeld, Ally; Lacbawan, Ley; Lopes, Fabiana L.; Kassem, Layla; Nardi, Antônio Egídio; McMahon, Francis J.

doi:10.1101/2023.06.24.23291169

Cited by 1 publication

(1 citation statement)

References 42 publications

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“…The authors suggest that MDQ may capture symptoms of general distress or psychopathology rather than hypomania/mania, specifically in at-risk populations [ 31 ]. However, these results contrast with those from another study that found a strong association between the MDQ score and a (different) pool of genetic risk factors [ 32 ]. An explanation for these contrasting results may be that the pools of genetic variants analyzed in the studies may not be the expression of a single risk, and that the disorder (of which the common syndrome is known, but a common pathogenesis is not) may be the result of the interaction of complex (and even non-unique) risk pathways.…”

Section: Introductioncontrasting

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: Introductioncontrasting

confidence: 99%