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

作者:Barrett Karlene T; Rodikova Ekaterina; Weese Mayer Debra E; Rand Casey M; Marazita Mary L; Cooper Margaret E; Berry Kravis Elizabeth M; Bech Hansen N Torben; Wilson Richard J A*
来源:Acta Paediatrica, 2013, 102(12): E546-E552.
DOI:10.1111/apa.12405

摘要

AimStress 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. %26lt;br%26gt;MethodsPolymerase 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. %26lt;br%26gt;ResultsThe intron 3 variant, A/G: rs758995 (variant h%26apos;), and the intron 6 variant, C/T: rs10081254 (variant n%26apos;), were significantly associated with SIDS in Caucasians and African Americans, respectively (p%26lt;0.05). Also associated with SIDS were interactions between the variants rs2302475 (variant i%26apos;) in PAC1 and rs8192597 and rs2856966 in PACAP among Caucasians (p%26lt;0.02) and rs2267734 (variant q%26apos;) in PAC1 and rs1893154 in PACAP among African Americans (p%26lt;0.01). However, none of these differences survived post hoc analysis. %26lt;br%26gt;ConclusionOverall, 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.

  • 出版日期2013-12