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Editorial: Do Different Neurogenetic Disorders Impart Different Profiles of Psychiatric Risk?

ABSTRACT: The best-studied examples of genetically defined developmental disorders, such as Down syndrome (trisomy 21) and velocardiofacial syndrome (del22q11), have been known since before the genomic era and were initially recognized as distinct syndromes based on their own unique constellation of dysmorphic and multisystem features. For example, Down syndrome is characterized by the co-occurrence of several dysmorphic features, including a flattened facial profile, slanted palpebral fissures, protruding tongue, and transverse palmar crease, with accompanying hypotonia, cardiac issues, and developmental delay.¹ None of these features in isolation is specific to Down syndrome, and all features are not present in all cases, but the co-occurrence of multiple features from this set is a specific and sensitive marker for the presence of trisomy 21. To what extent might similar principles apply to the patterning of cognitive and behavioral features across different neurogenetic syndromes?

SUBMITTER: Raznahan A

PROVIDER: S-EPMC7529113 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Editorial: Do Different Neurogenetic Disorders Impart Different Profiles of Psychiatric Risk?

Raznahan Armin A

Journal of the American Academy of Child and Adolescent Psychiatry 20200412 9

The best-studied examples of genetically defined developmental disorders, such as Down syndrome (trisomy 21) and velocardiofacial syndrome (del22q11), have been known since before the genomic era and were initially recognized as distinct syndromes based on their own unique constellation of dysmorphic and multisystem features. For example, Down syndrome is characterized by the co-occurrence of several dysmorphic features, including a flattened facial profile, slanted palpebral fissures, protrudin ...[more]

PMID: 32171632

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Project description:Background: Previous studies have revealed associations between psychiatric disorder diagnosis and shorter telomere length. Here, we attempt to discern whether genetic risk for psychiatric disorders, or use of pharmacological treatments (i.e., antidepressants), predict shorter telomere length and risk for aging-related disease in a United Kingdom population sample. Methods: DNA samples from blood were available from 351 participants who were recruited as part of the South East London Community Health (SELCoH) Study, and for which whole-genome genotype data was available. Leukocyte telomere length was characterized using quantitative polymerase chain reactions. Individualized polygenic risk scores for major depressive disorder (MDD), bipolar disorder (BD), and schizophrenia (SCZ) were calculated using Psychiatric Genomics Consortium summary statistics. We subsequently performed linear models, to discern the impact polygenic risk for psychiatric disorders (an etiological risk factor) and antidepressant use (common pharmacological treatment) have on telomere length, whilst accounting for other lifestyle/health factors (e.g., BMI, smoking). Results: There were no significant associations between polygenic risk for any of the psychiatric disorders tested and telomere length (p > 0.05). Antidepressant use was significantly associated with shorter telomere length and this was independent from a depression diagnosis or current depression severity (p ? 0.01). Antidepressant use was also associated with a significantly higher risk of aging-related disease, which was independent from depression diagnosis (p ? 0.05). Conclusion: Genetic risk for psychiatric disorders is not associated with shorter telomere length. Further studies are now needed to prospectively characterize if antidepressant use increases risk for aging-related disease and telomere shortening, or whether people who age faster and have aging-related diseases are just more likely to be prescribed antidepressants.

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Editorial: Do Different Neurogenetic Disorders Impart Different Profiles of Psychiatric Risk?

Publications

Editorial: Do Different Neurogenetic Disorders Impart Different Profiles of Psychiatric Risk?

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