Circadian polymorphisms in night owls, in bipolars, and in non-24-hour sleep cycles
| Autor: | Min Kyu Rhee, Gregory J. Tranah, Farhad F. Shadan, J. Steven Poceta, Lawrence E. Kline, John R. Kelsoe, Daniel F. Kripke, Caroline M. Nievergelt, Richard T. Loving, Walter T. Klimecki, Shazia Jamil, Tatyana Shekhtman, Heon Jeong Lee, Katharine M. Rex, Sarah S. Murray |
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| Rok vydání: | 2014 |
| Předmět: |
medicine.medical_specialty
Bipolar disorder Clinical Sciences Delayed sleep phase Single-nucleotide polymorphism Non-24 hour sleep-wake disorder Polysomnography Bioinformatics BHLHE40 RORC Melatonin 03 medical and health sciences Special Article 0302 clinical medicine Clinical Research NFIL3 Genetics Medicine 2.1 Biological and endogenous factors Circadian rhythm Psychiatry Biological Psychiatry 030304 developmental biology 0303 health sciences Non-24-hour sleep–wake disorder medicine.diagnostic_test business.industry Haplotype Neurosciences medicine.disease 3. Good health Brain Disorders Delayed sleep phase syndrome Psychiatry and Mental health Mental Health business Sleep Research 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | Psychiatry investigation, vol 11, iss 4 Psychiatry Investigation Kripke, DF; Klimecki, WT; Nievergelt, CM; Rex, KM; Murray, SS; Shekhtman, T; et al.(2014). Circadian polymorphisms in night owls, in bipolars, and in non-24-hour sleep cycles. Psychiatry Investigation, 11(4), 345-362. doi: 10.4306/pi.2014.11.4.345. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/77x9g0vt |
| DOI: | 10.4306/pi.2014.11.4.345. |
| Popis: | © 2014 Korean Neuropsychiatric Association. People called night owls habitually have late bedtimes and late times of arising, sometimes suffering a heritable circadian disturbance called delayed sleep phase syndrome (DSPS). Those with DSPS, those with more severe progressively-late non-24-hour sleep-wake cycles, and those with bipolar disorder may share genetic tendencies for slowed or delayed circadian cycles. We searched for polymorphisms associated with DSPS in a case-control study of DSPS research participants and a separate study of Sleep Center patients undergoing polysomnography. In 45 participants, we resequenced portions of 15 circadian genes to identify unknown polymorphisms that might be associated with DSPS, non-24-hour rhythms, or bipolar comorbidities. We then genotyped single nucleotide polymorphisms (SNPs) in both larger samples, using Illumina Golden Gate assays. Associations of SNPs with the DSPS phenotype and with the morningness- eveningness parametric phenotype were computed for both samples, then combined for meta-analyses. Delayed sleep and “eveningness” were inversely associated with loci in circadian genes NFIL3 (rs2482705) and RORC (rs3828057). A group of haplotypes overlapping BHLHE40 was associated with non-24-hour sleep-wake cycles, and less robustly, with delayed sleep and bipolar disorder (e.g., rs34883305, rs34870629, rs74439275, and rs3750275 were associated with n=37, p=4.58E-09, Bonferroni p=2.95E-06). Bright light and melatonin can palliate circadian disorders, and genetics may clarify the underlying circadian photoperiodic mechanisms. After further replication and identification of the causal polymorphisms, these findings may point to future treatments for DSPS, non-24-hour rhythms, and possibly bipolar disorder or depression. |
| Databáze: | OpenAIRE |
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