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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Increase in harm avoidance by genetic loading of schizophrenia.
Minyoung Sim1, Jin Hun Kim, Seon Jin Yim
1Department of Psychiatry, Seoul National Hospital, Seoul, South Korea.
Genetic loading for schizophrenia correlates with increased harm avoidance in relatives, suggesting it may be a potential endophenotype. This study examined temperament and character traits in families affected by schizophrenia.
Area of Science:
- Psychiatry and Genetics
- Neuropsychiatric Disorders Research
- Behavioral Genetics
Background:
- Schizophrenia is a highly familial neuropsychiatric disorder with significant heritability (60%-90%).
- First-degree relatives of individuals with schizophrenia often exhibit subtle neuropsychological and neurological abnormalities.
- Personality traits, including temperament and character, are known to be genetically influenced.
Purpose of the Study:
- To evaluate the temperament and character profiles of first-degree relatives of individuals with schizophrenia.
- To investigate the influence of genetic loading for schizophrenia on these personality traits within families.
Main Methods:
- Utilized the Temperament and Character Inventory (TCI) on 97 first-degree relatives, 48 probands (schizophrenia/schizoaffective disorder), and 106 controls.
- Defined 'presumed carriers' among relatives based on pedigree analysis (parents/siblings with affected offspring/relatives).
- Employed mixed-model analysis of variance, accounting for family as a random effect and age as a covariate.
Main Results:
- Harm avoidance (HA) scores showed a dose-dependent increase: controls < relatives < probands.
- Presumed carriers among relatives exhibited higher HA than control subjects.
- Schizophrenia probands displayed lower reward dependence, self-directedness, and cooperativeness, and higher self-transcendence compared to relatives and controls.
Conclusions:
- Increased harm avoidance correlates with higher genetic loading for schizophrenia.
- Harm avoidance may represent a potential endophenotype for schizophrenia.
- Distinct temperament and character profiles differentiate probands from their relatives and controls.
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