0056 Pleiotropic Effects of Genetic Variants on Substance Use Disorder and Sleep Patterns Article Swipe
Bruna Pereira Marquezini
,
Mariana Moysés‐Oliveira
,
Malú Zamariolli
,
ís La Berro
,
Vinícius Dokkedal‐Silva
,
Dalva Poyares
,
José Carlos Fernandes Galduróz
,
Mônica L. Andersen
,
Sérgio Tufik
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1093/sleep/zsaf090.0056
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1093/sleep/zsaf090.0056
Introduction Substance use disorder (SUD) is associated with several negative health outcomes, including sleep disorders. Although this correlation is well established, little is known about the genetic mechanisms underlying the comorbidity between sleep problems and SUD Methods We have conducted a phenome-wide association study (PheWAS) in the São Paulo Epidemiologic Sleep Study (EPISONO). The single nucleotide variants (SNV) rs4238213 and rs4727799 were selected from previous genome-wide association studies for SUD. The association of genotypes with the 460 phenotypes filtered from the EPISONO database was conducted, and the covariates of the model included age, age-squared (age²), sex and principal components (PCs 1 to 10). To correct for multiple testing, we applied Bonferroni tests, treating each trait as a test, independently for each SNV. Non-parametric tests were applied to validate nominally significant associations identified in the PheWAS (p< 0.05). Results We showed possible SNVs’ associations with 36 phenotypes in the EPISONO database. We validated the implication of these variants with substance use as they showed nominal association with SUD in our admixed cohort. In addition to the validation of previously reported results, suggestive associations were observed for phenotypes related to sleep-disordered breathing, sleepiness, and sleep patterns. The minor allele of the SNV rs4238213 was nominally associated with lower odds of Tobacco use (OR=0.78; p-value=0.02) and higher odds of being in the group of people who reported having used medication to stay awake (OR=2.88; p-value=6.95x10-4). The risk allele may also be linked to increase in REM sleep latency (REM latency) (β=0.10; p-value=0.03), and increased odds of having nighttime nasal obstruction (OR=1.37, p-value=0.02). The SNV rs4727799’s minor allele was nominally associated with higher odds of tobacco use (OR=1.61; p-value=0.04), decreased chance of dozing off while reading (OR=1.37, p-value=0.01), presence of clinically relevant respiratory arousal index (OR=1.35; p-value =0.02) and increased RERA index (β=0.14; p=0.01). Conclusion Our results suggest a pleiotropic effect of both SNVs on SUD and sleep-related traits, highlighting the possibility of an overlap between the genetic factors involved in the risk for SUD and sleep phenotypes. Support (if any) AFIP, FAPESP, CNPq.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/sleep/zsaf090.0056
- https://academic.oup.com/sleep/article-pdf/48/Supplement_1/A25/63223483/zsaf090.0056.pdf
- OA Status
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- Related Works
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- OpenAlex ID
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All OpenAlex metadata
Raw OpenAlex JSON
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- Title
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0056 Pleiotropic Effects of Genetic Variants on Substance Use Disorder and Sleep PatternsWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
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2025Year of publication
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2025-05-01Full publication date if available
- Authors
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Bruna Pereira Marquezini, Mariana Moysés‐Oliveira, Malú Zamariolli, ís La Berro, Vinícius Dokkedal‐Silva, Dalva Poyares, José Carlos Fernandes Galduróz, Mônica L. Andersen, Sérgio TufikList of authors in order
- Landing page
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https://doi.org/10.1093/sleep/zsaf090.0056Publisher landing page
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https://academic.oup.com/sleep/article-pdf/48/Supplement_1/A25/63223483/zsaf090.0056.pdfDirect link to full text PDF
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
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https://academic.oup.com/sleep/article-pdf/48/Supplement_1/A25/63223483/zsaf090.0056.pdfDirect OA link when available
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Sleep (system call), Substance use, Psychiatry, Psychology, Clinical psychology, Medicine, Genetics, Biology, Computer science, Operating systemTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310311648 |
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| primary_location.id | doi:10.1093/sleep/zsaf090.0056 |
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| primary_location.source.host_organization_lineage | https://openalex.org/P4310311648 |
| primary_location.license | |
| primary_location.pdf_url | https://academic.oup.com/sleep/article-pdf/48/Supplement_1/A25/63223483/zsaf090.0056.pdf |
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| primary_location.is_accepted | True |
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| primary_location.raw_source_name | SLEEP |
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| publication_date | 2025-05-01 |
| publication_year | 2025 |
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