W87. Transcriptome of Cortex Tissues From a Schizophrenia Patient With Extremely Low Schizophrenia Polygenic Scoreстатья
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Авторы:
Kondratyev N.,
Artyukhov A.,
Mikhailova V.,
Efimova O.,
Lezheiko T.,
Ebrahim N.,
Morozova A.,
Kostyuk G.,
Khrameeva E.,
Dashinimaev E.,
Golimbet V.
Аннотация:BackgroundLarge genetic effects from rare coding mutations (Singh et al. 2022; Liu et al. 2023) and polygenic burden from common variants (Trubetskoy et al. 2022) both contribute to the genetic liability of schizophrenia (SZ). However, the exact parameters of their interaction are currently under active investigation. For schizophrenia and other traits, it has been demonstrated that one might expect that in an individual with low polygenic risk, the chance of finding a new genetic factor with a large effect is higher (Bergen et al. 2019; Antaki et al. 2022). Here, we describe a case of an SZ patient with an extremely low SZ polygenic risk. We utilised expression data from his cortex samples to investigate whether some unique mutations in the patient's genome could be linked to gene expression features in his brain.