title: Non-synonymous polymorphism in the neuropeptide S precursor gene and sleep apnea.
abstract: BACKGROUND
  Obstructive sleep apnea syndrome (OSAS) is a complex disease with a strong genetic basis. One of the primary molecular domains affected by OSAS is sympathetic activity. Neuropeptide S (NPS) plays an important role in the regulation of the sleep-wakefulness cycle, anxiety states, and daytime sleepiness. It is important to study neuropeptides related to sympathetic activity regulation and how their function could be modified by genetic variants affecting the expression of these molecules.
  
  
  OBJECTIVE
  We investigated the association of the non-synonymous polymorphism rs4751440 in the NPS precursor gene with OSAS and certain variables related to OSAS (daytime sleepiness, body mass index (BMI), insulin resistance, and blood pressure). This polymorphism causes an amino acid substitution in exon 3 of the human NPS precursor gene.
  
  
  METHODS
  We included 253 OSAS patients and 70 healthy subjects. Genotyping was done by polymerase chain reaction using specific flanking primers and agarose gel electrophoresis. Daytime sleepiness, BMI, plasma levels of high-density lipoprotein, glucose, total cholesterol, insulin, triglycerides, and the homeostasis model assessment index were also determined.
  
  
  RESULTS
  A similar genotypic and allelic distribution was found in OSAS patients and controls. The risk of OSAS was not associated with the rs4751440 polymorphism. There was no significant interaction between daytime sleepiness or metabolic variables and the rs4751440 polymorphism.
  
  
  CONCLUSIONS
  Genotypic and allelic frequency distribution of the rs4751440 polymorphism was similar in OSAS patients and controls. In this population-based study, we could not show a significant association between rs4751440 polymorphism and susceptibility to OSAS or certain phenotypes related to OSAS (daytime sleepiness, BMI, systolic blood pressure, and insulin resistance) with the exception of diastolic blood pressure.
authors.affiliation: Respiratory Diseases Research Unit, IRB Lleida, Lleida, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Sánchez-de-la-Torre
authors.forename: Javier
authors.initials: J
authors.lastname: Pierola
authors.forename: Carme
authors.initials: C
authors.lastname: Vidal
authors.forename: Antonia
authors.initials: A
authors.lastname: Barceló
authors.forename: Mónica
authors.initials: M
authors.lastname: de la Peña
authors.forename: Zahid
authors.initials: Z
authors.lastname: Hussain
authors.forename: Francisco
authors.initials: F
authors.lastname: Capote
authors.forename: Joaquín
authors.initials: J
authors.lastname: Durán
authors.forename: Alvar G N
authors.initials: AG
authors.lastname: Agustí
authors.forename: Luis
authors.initials: L
authors.lastname: de Lecea
authors.forename: Gerard
authors.initials: G
authors.lastname: Torres
authors.forename: Cristina
authors.initials: C
authors.lastname: Esquinas
authors.forename: Montserrat
authors.initials: M
authors.lastname: Martinez
authors.forename: Ferran
authors.initials: F
authors.lastname: Barbé
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics; D001794:Blood Pressure / Q000235:genetics; D015992:Body Mass Index; D006970:Disorders of Excessive Somnolence / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009479:Neuropeptides / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D020181:Sleep Apnea, Obstructive / Q000235:genetics*; D013030:Spain; D015320:Tachykinins / Q000235:genetics*
chemical_list: D009479:Neuropeptides; D015320:Tachykinins; C569868:neuropeptide S precursor protein, human; C506531:neuropeptide S, human
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