title: HTR2A variation and sudden infant death syndrome: a case-control analysis.
abstract: OBJECTIVE
  The serotonergic (5-HT) system functions in central autonomic regulation with homeostatic roles in cardiorespiratory control, thermoregulation, arousal and sleep-wake cycling. Altered function and development of this system in cases of sudden infant death syndrome (SIDS) have been established, but the aetiology of these disturbances remains unclear. The serotonin receptor, HTR2A, functions within this system with roles in the homeostatic response to hypoxia including excitatory effects on respiration, gasping and rhythm generation, all functions potentially compromised in SIDS. The objective of this study was to examine the relationship between SIDS risk and HTR2A variation.
  
  
  METHODS
  All coding regions, intron-exon boundaries and the promoter region of HTR2A were PCR amplified and analysed by standard sequencing in 96 SIDS cases and 96 matched controls.
  
  
  RESULTS
  Twenty-one HTR2A variations were identified in this case-control cohort, including four novel variations (c.C-1185A, c.T-923C, c.T-17C and c.C50T). None of the variations identified showed a significant association with SIDS.
  
  
  CONCLUSIONS
  This report provides evidence that despite known alterations of the 5-HT system in SIDS, and the logical role for the HTR2A receptor, genetic variation of HTR2A as studied in our cohort is not responsible for these alterations. These results represent a further step in the investigation of the aetiology of the altered serotonin system in SIDS cases.
authors.affiliation: Department of Pediatrics, Rush Children's Hospital at Rush University Medical Center, Chicago, IL, USA.
authors.forename: Casey M
authors.initials: CM
authors.lastname: Rand
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Berry-Kravis
authors.forename: Wenqing
authors.initials: W
authors.lastname: Fan
authors.forename: Debra E
authors.initials: DE
authors.lastname: Weese-Mayer
mesh_terms: D001341:Autonomic Nervous System; D016022:Case-Control Studies; D005260:Female; D014644:Genetic Variation; D006801:Humans; D000860:Hypoxia; D007223:Infant; D008297:Male; D011110:Polymorphism, Genetic; D044402:Receptor, Serotonin, 5-HT2A / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors; D012701:Serotonin / Q000378:metabolism; D013398:Sudden Infant Death / Q000209:etiology / Q000235:genetics* / Q000473:pathology
chemical_list: D044402:Receptor, Serotonin, 5-HT2A; D012701:Serotonin