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Analysis of PAC 1 receptor gene variants in C aucasian and A frican A merican infants dying of sudden infant death syndrome
Author(s) -
Barrett Karlene T,
Rodikova Ekaterina,
WeeseMayer Debra E,
Rand Casey M,
Marazita Mary L,
Cooper Margaret E,
BerryKravis Elizabeth M,
BechHansen N Torben,
Wilson Richard JA
Publication year - 2013
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.12405
Subject(s) - medicine , sudden infant death syndrome , african american , pediatrics , history , ethnology
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, PAC 1 , 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 PAC 1 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 PAC 1 and rs8192597 and rs2856966 in PACAP among Caucasians (p < 0.02) and rs2267734 (variant ‘q’) in PAC 1 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 PAC 1 gene and SIDS ; however, a number of potential associations between race‐specific variants and SIDS were identified that warrant targeted investigations in future studies.