2.50
Hdl Handle:
http://hdl.handle.net/10755/211707
Type:
Research Study
Title:
INDIVIDUAL VULNERABILITY TO SLEEP DISTURBANCE: GENOTYPING CLOCK GENES
Abstract:
Purpose/Background: Phenotypic variation among the genes that govern sleep homeostasis and circadian rhythm is the basis for individual differences in sleep-wake pattern, sleep requirement, and responses to sleep disturbance. Clock genes regulate the activity of the superior chiasmatic nucleus, the central pacemaker for circadian rhythm, and are implicated in sleep homeostasis. PER3, a clock gene and member of the PERIOD gene family, has been identified as a genetic marker for individual differences in vulnerability to sleep disturbance. PER3 exhibits a variable number tandem repeat (VNTR) polymorphism involving 4 to 5 repeats of a 54-nucleotide segment: PER35/5, PER34/5, and PER34/4. PER3 polymorphisms are associated with phenotypic variations in sleep-wake pattern and chronotype such as diurnal preference, rigidity of circadian control, and sleep homeostasis pressure defined as increased need for sleep with increasing length of the wake period. The PER3 genotype is also related with cognitive response to sleep deprivation including working memory tasks, brain activation, and executive function. Thus the genotype for PER3 as well as additional clock genes appear to influence factors contributing to daytime functioning and tolerance for sleep disturbance however currently there is limited research connecting clock gene genotype with biomarkers for obesity, inflammation, neuroendocrine, and other outcomes. Method: Genotype sampling may involve blood or buccal swab specimens. While blood samples are more efficacious, buccal swab samples have higher subject acceptability and are generally acceptable. Genotyping for PER3 using buccal swab samples requires specialized laboratory settings and attention to collection and handling of samples including reduction of food contaminants and freezer storage. Procedural descriptions should include approach to DNA extraction, polymerase chain reaction (PCR) primers, and DNA band size as well as security measures for human genetic materials. Sample collection procedures for buccal samples are well suited to research across the lifespan. Implications: Genetic makeup is a central component of person-environment fit. Environmental demands altering sleep pattern produce differential effects based on PER3 and other clock gene genotypes. A genetic predisposition to adverse effects of sleep disruption is particularly relevant when considering the interaction of individuals with differing sleep patterns, such as couples or family units. Vulnerability to sleep disturbance is not only a foundation for understanding adverse outcomes to sleep disruption but also the basis for individualized intervention.
Keywords:
Phenotypic variation; Sleep homeostasis; Carcadian Rhythm
Repository Posting Date:
20-Feb-2012
Date of Publication:
20-Feb-2012
Other Identifiers:
4938
Sponsors:
Western Institute of Nursing

Full metadata record

DC FieldValue Language
dc.typeResearch Studyen_GB
dc.titleINDIVIDUAL VULNERABILITY TO SLEEP DISTURBANCE: GENOTYPING CLOCK GENESen_GB
dc.identifier.urihttp://hdl.handle.net/10755/211707-
dc.description.abstractPurpose/Background: Phenotypic variation among the genes that govern sleep homeostasis and circadian rhythm is the basis for individual differences in sleep-wake pattern, sleep requirement, and responses to sleep disturbance. Clock genes regulate the activity of the superior chiasmatic nucleus, the central pacemaker for circadian rhythm, and are implicated in sleep homeostasis. PER3, a clock gene and member of the PERIOD gene family, has been identified as a genetic marker for individual differences in vulnerability to sleep disturbance. PER3 exhibits a variable number tandem repeat (VNTR) polymorphism involving 4 to 5 repeats of a 54-nucleotide segment: PER35/5, PER34/5, and PER34/4. PER3 polymorphisms are associated with phenotypic variations in sleep-wake pattern and chronotype such as diurnal preference, rigidity of circadian control, and sleep homeostasis pressure defined as increased need for sleep with increasing length of the wake period. The PER3 genotype is also related with cognitive response to sleep deprivation including working memory tasks, brain activation, and executive function. Thus the genotype for PER3 as well as additional clock genes appear to influence factors contributing to daytime functioning and tolerance for sleep disturbance however currently there is limited research connecting clock gene genotype with biomarkers for obesity, inflammation, neuroendocrine, and other outcomes. Method: Genotype sampling may involve blood or buccal swab specimens. While blood samples are more efficacious, buccal swab samples have higher subject acceptability and are generally acceptable. Genotyping for PER3 using buccal swab samples requires specialized laboratory settings and attention to collection and handling of samples including reduction of food contaminants and freezer storage. Procedural descriptions should include approach to DNA extraction, polymerase chain reaction (PCR) primers, and DNA band size as well as security measures for human genetic materials. Sample collection procedures for buccal samples are well suited to research across the lifespan. Implications: Genetic makeup is a central component of person-environment fit. Environmental demands altering sleep pattern produce differential effects based on PER3 and other clock gene genotypes. A genetic predisposition to adverse effects of sleep disruption is particularly relevant when considering the interaction of individuals with differing sleep patterns, such as couples or family units. Vulnerability to sleep disturbance is not only a foundation for understanding adverse outcomes to sleep disruption but also the basis for individualized intervention.en_GB
dc.subjectPhenotypic variationen_GB
dc.subjectSleep homeostasisen_GB
dc.subjectCarcadian Rhythmen_GB
dc.date.available2012-02-20T12:09:36Z-
dc.date.issued2012-02-20T12:09:36Z-
dc.date.accessioned2012-02-20T12:09:36Z-
dc.description.sponsorshipWestern Institute of Nursingen_GB
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