Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome

Karlene T. Barrett, Ekaterina Rodikova, Debra E. Weese-Mayer, Casey M. Rand, Mary L. Marazita, Margaret E. Cooper, Elizabeth M. Berry-Kravis, N. Torben Bech-Hansen, Richard J A Wilson

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Aim 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. Conclusion 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.

Original languageEnglish (US)
Pages (from-to)e546-e552
JournalActa Paediatrica, International Journal of Paediatrics
Issue number12
StatePublished - Dec 2013


  • Genetic variant
  • PAC1 receptor
  • Pituitary adenylate cyclase activating polypeptide
  • Sudden infant death syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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