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[Neurocognitive endophenotypes in psychiatric genetics].

Eszter Kótyuk, Mária Sasvári‐Székely, Anna Székely

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Abstract

Psychiatric genetics aims to map genetic factors of psychiatric disorders with complex inheritance. The most commonly used phenotype is the categorical variable of the presence or absence of a disease (case-control model). However, the biological background of various psychiatric disease categories often overlaps. Thus, the use of endophenotypes based on specific biological mechanisms seems to be a more efficient approach in genetic association studies. Results confirm that categorical variables as phenotypes are statistically not so sensitive in identification of a genetic association as well-chosen endophenotypes. Current literature advocates a growing significance of analyzing dimensional neurocognitive endophenotypes in genetic association studies, as well as in developing diagnostic category systems with biological backgrounds.

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What this paper is about

Psychiatric genetics aims to map genetic factors of psychiatric disorders with complex inheritance. The most commonly used phenotype is the categorical variable of the presence or absence of a disease (case-control model). However, the biological background of various psychiatric disease categories often overlaps. Thus, the use of endophenotypes based on specific biological mechanisms seems to be a more efficient approach in genetic association studies. Results confirm that categorical variables as phenotypes are statistically not so sensitive in identification of a genetic association as well-chosen endophenotypes. Current literature advocates a growing significance of analyzing dimensional neurocognitive endophenotypes in genetic association studies, as well as in developing diagnostic category systems with biological backgrounds.

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Available abstract

Psychiatric genetics aims to map genetic factors of psychiatric disorders with complex inheritance. The most commonly used phenotype is the categorical variable of the presence or absence of a disease (case-control model). However, the biological background of various psychiatric disease categories often overlaps. Thus, the use of endophenotypes based on specific biological mechanisms seems to be a more efficient approach in genetic association studies. Results confirm that categorical variables as phenotypes are statistically not so sensitive in identification of a genetic association as well-chosen endophenotypes. Current literature advocates a growing significance of analyzing dimensional neurocognitive endophenotypes in genetic association studies, as well as in developing diagnostic category systems with biological backgrounds.

Key concepts: Endophenotype, Neurocognitive, Psychiatric genetics, Categorical variable, Genetic association, Association (psychology), Psychology, Subtyping

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