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Identifier

000451123

Title

Association study of variants in genes related to sleep disorders with actigraphy data in dementia patients and controls

Alternative Title

Μελέτη συσχέτισης πολυμορφισμών γονιδίων που σχετίζονται με διαταραχές του ύπνου και δεδομένων ακτιγραφίας σε ασθενείς με άνοια και νοητικά υγιείς μάρτυρες

Author

Τσομπανίδου, Ευθυμία

Thesis advisor

Ζαγανάς, Ιωάννης

Reviewer

Μπάστα, Μαρία
Θερμού, Κυριακή

Abstract

Introduction: Sleep is a vital function for humans. Accordingly, sleep disturbances can be the symptom of a disorder or can cause disease by themselves. In previous research, several genes that regulate circadian rhythms have been identified, including CLOCK, PER1, PER2, PER3, CRY1, CRY2, ARNTL, NPAS2, RORA, RORB, REV1, VDR, BHLHE40, BHLHE41, NR1D1, TNF, CHRM3, BDNF, SLC6A4, SLC4A3, HCRTR1, HCRTR2, MECP2, GABBR1 and HLA-DQB1. Aims: Our aim here was to identify the effect of variants in genes associated with circadian rhythms on selected sleep parameters as identified by actigraphy. Methods: In our study, we analyzed variants (Single Nucleotide Polymorphisms: SNPs) in these genes for their association with sleep parameters, as identified through actigraphy in a large interdisciplinary cohort (Cretan Aging Cohort: CAC). For this, we associated WES data from CAC participants with the actigraphy scores in 4 sleep parameters (night TST, TST, night TiB, total TiB). Our study subsample included 164 participants (91 dementia, 73 controls). The first part of our study focused on assessing the effect of the presence or absence of SNPs in these 25 genes on the 4 sleep parameters scores. An outcome was considered statistically significant if resulting in a p value of <0.05. The second part of the study aimed to detect rare variants present in participants with extreme sleep phenotypes, as determined by the 4 sleep parameter scores. Results: We found that the rs1042098 (SLC6A3 gene), the rs8192440 (CRY1 gene) and the rs2304911 (PER1 gene) variants showed a statistically significant difference comparing values of sleep parameters between SNP carriers and non-carriers, with the carriers of rs2304911 and rs1042098 having shorter objective sleep in all parameters and the carriers of rs8192440 having longer objective sleep in all parameters examined, comparing to the non-carriers group. Also, we identified several rare variants in this sample that had an association with an extreme sleep phenotype. Conclusion: There is evidence that there may be an association of the genotype with the sleep phenotype, as determined by actigraphy. Further research is needed to better describe this association between shorter or longer sleep duration and the presence of the variants in the genes studied.

Language

English

Subject

Actigraphy

Clock genes

Sleep

Sleep parameteres

Ύπνος

Ακτιγραφία

Γονίδια clock

Παράμετροι ύπνου

Issue date