Genotyping Sleep Disorders Patients

Abstract

ObjectiveThe genetic susceptibility factors underlying sleep disorders might help us predict prognoses and responses to treatment. Several candidate polymorphisms for sleep disorders have been proposed, but there has as yet inadequate replication or validation that the candidates may be useful in the clinical setting.MethodsTo assess the validity of several candidate associations, we obtained saliva deoxyribonucleic acid (DNA) samples and clinical information from 360 consenting research participants who were undergoing clinical polysomnograms. Ten single nucleotide polymorphisms (SNPs) were genotyped. These were thought to be related to depression, circadian sleep disorders, sleep apnea, restless legs syndrome (RLS), excessive sleepiness, or to slow waves in sleep.ResultsWith multivariate generalized linear models, the association of TEF rs738499 with depressive symptoms was confirmed. Equivocal statistical evidence of association of rs1801260 (the C3111T SNP in the CLOCK gene) with morningness/eveningness and an association of Apolipoprotein E (APOE) rs429358 with the Epworth Sleepiness Scale (ESS) were obtained, but these associations were not strong enough to be of clinical value by themselves. Predicted association of SNPs with sleep apnea, RLS, and slow wave sleep were not confirmed.ConclusionThe SNPs tested would not, by themselves, be of use for clinical genotyping in a sleep clinic.

Human apolipoprotein E4 targeted replacement in mice reveals increased susceptibility to sleep disruption and intermittent hypoxia

“…The ⑀4 allele is associated with reduced levels of APOE, conferring increased susceptibility and reduced response to neuronal injury (56). Recent reports on the increased prevalence of the ApoE4 in sleep-disordered breathing (SDB) (15,26,35), particularly in the presence of cognitive deficits (8,17,27,30,38), leads to the assumption that ⑀4 carriers might be more vulnerable to any sleep perturbation. It is important to note that these studies do not differentiate between two working hypotheses, namely 1) AD elicits sleep disruption or sleep apnea, or 2) sleep disruption/sleep apnea may either cause or otherwise facilitate AD progression.…”

Analysis of genetic association and epistasis interactions between circadian clock genes and symptom dimensions of bipolar affective disorder

“…Zhang group, on the other hand, found allele C associated with schizophrenia (Zhang et al, 2011). Seasonality impact on sleep patterns in affective disorders has been described (Benedetti et al, 2007;Kripke et al, 2010). Ziv-Gal group found C allele to associated with sleep disturbances in females only (Ziv-Gal et al, 2013).…”

The Effect of Different ApoE Genotypes and Other Risk Factors on Obstructive Sleep Apnea Syndrome Formation

“…In the same study, although ε3/ε4 genotypes were found to be significant in terms of hypertension, there was no significant relationship between genotypes and sex, smoking, BMI, and alcohol use parameters (29). In another study, an association was determined between ESS and the rs429358 mutation of the ApoE gene, but this relationship was not considered strong enough to be clinically valuable in terms of ESS (30). In our study, ESS values were found to be high in individuals with ε4 alleles, but this difference was not significant.…”

“…Based on laboratory criteria, it has been observed in the past that the prevalence of sleep apnea is higher in older people than in young people. In a comprehensive series, Kripke et al (30) observed a prevalence of sleep apnea ranging between 24% and 62% in the elderly population. In a study performed in our country, female sex, older 202 Smoking is a susceptibility factor for pulmonary and cardiovascular diseases, and is considered a risk factor for OSAS development.…”