title: Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome.
abstract: OBJECTIVE
  Stress peptide, pituitary adenylate cyclase-activating polypeptide (PACAP), has been implicated in sudden infant death syndrome (SIDS). The aim of this exploratory study was to determine whether variants in the gene encoding the PACAP-specific receptor, PAC1, are associated with SIDS in Caucasian and African American infants.
  
  
  METHODS
  Polymerase chain reaction and Sanger DNA sequencing was used to compare variants in the 5'-untranslated region, exons and intron-exon boundaries of the PAC1 gene in 96 SIDS cases and 96 race- and gender-matched controls.
  
  
  RESULTS
  The intron 3 variant, A/G: rs758995 (variant 'h'), and the intron 6 variant, C/T: rs10081254 (variant 'n'), were significantly associated with SIDS in Caucasians and African Americans, respectively (p < 0.05). Also associated with SIDS were interactions between the variants rs2302475 (variant 'i') in PAC1 and rs8192597 and rs2856966 in PACAP among Caucasians (p < 0.02) and rs2267734 (variant 'q') in PAC1 and rs1893154 in PACAP among African Americans (p < 0.01). However, none of these differences survived post hoc analysis.
  
  
  CONCLUSIONS
  Overall, this study does not support a strong association between variants in the PAC1 gene and SIDS; however, a number of potential associations between race-specific variants and SIDS were identified that warrant targeted investigations in future studies.
authors: Department of Physiology and Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
authors: Karlene T
authors: KT
authors: Barrett
authors: Ekaterina
authors: E
authors: Rodikova
authors: Debra E
authors: DE
authors: Weese-Mayer
authors: Casey M
authors: CM
authors: Rand
authors: Mary L
authors: ML
authors: Marazita
authors: Margaret E
authors: ME
authors: Cooper
authors: Elizabeth M
authors: EM
authors: Berry-Kravis
authors: N Torben
authors: NT
authors: Bech-Hansen
authors: Richard J A
authors: RJ
authors: Wilson
mesh_terms: D001741:Black or African American / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D008396:Maryland / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide; D051237:Receptors, Pituitary Adenylate Cyclase-Activating Polypeptide, Type I / Q000235:genetics*; D013398:Sudden Infant Death / Q000208:ethnology / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D051237:Receptors, Pituitary Adenylate Cyclase-Activating Polypeptide, Type I
keywords: Genetic variant; PAC1 receptor; Pituitary adenylate cyclase activating polypeptide; Sudden infant death syndrome