Document Detail

Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.
MedLine Citation:
PMID:  15240857     Owner:  NLM     Status:  MEDLINE    
We have previously identified polymorphisms in the serotonin transporter gene promoter region and in intron 2 that were more common among sudden infant death syndrome (SIDS) cases compared with control subjects. To elucidate further the genetic profile that might increase an infant's vulnerability to SIDS, we focused on the recognized relationship between autonomic nervous system (ANS) dysregulation and SIDS. We therefore studied genes pertinent to early embryologic development of the ANS, including MASH1, BMP2, PHOX2a, PHOX2b, RET, ECE1, EDN1, TLX3, and EN1 in 92 probands with SIDS and 92 gender- and ethnicity-matched control subjects. Eleven protein-changing rare mutations were identified in 14 of 92 SIDS cases among the PHOX2a, RET, ECE1, TLX3, and EN1 genes. Only 1 of these mutations (TLX3) was identified in 2 of 92 control subjects. Black infants accounted for 10 of these mutations in SIDS cases and 2 control subjects. Four protein-changing common polymorphisms were identified in BMP2, RET, ECE1, and EDN1, but the allele frequency did not differ between SIDS cases and control subjects. However, among SIDS cases, the allele frequency for the BMP2 common polymorphism demonstrated ethnic differences; among control subjects, the allele frequency for the BMP2 and the ECE1 common polymorphisms also demonstrated ethnic differences. These data represent further refinement of the genetic profile that might place an infant at risk for SIDS.
Debra E Weese-Mayer; Elizabeth M Berry-Kravis; Lili Zhou; Brion S Maher; Mark E Curran; Jean M Silvestri; Mary L Marazita
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2004-07-07
Journal Detail:
Title:  Pediatric research     Volume:  56     ISSN:  0031-3998     ISO Abbreviation:  Pediatr. Res.     Publication Date:  2004 Sep 
Date Detail:
Created Date:  2004-08-30     Completed Date:  2005-08-29     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  391-5     Citation Subset:  IM    
Department of Pediatrics, Rush Children's Hospital at Rush University Medical Center, Chicago, IL 60612, USA.
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MeSH Terms
Autonomic Nervous System* / growth & development,  physiology
Case-Control Studies
Embryo, Mammalian / anatomy & histology,  physiology*
Ethnic Groups
Homeodomain Proteins / genetics
Infant, Newborn
Nerve Tissue Proteins / genetics
Polymorphism, Genetic*
Risk Factors
Sudden Infant Death / ethnology,  genetics*
Transcription Factors / genetics
Reg. No./Substance:
0/Homeodomain Proteins; 0/NBPhox protein; 0/Nerve Tissue Proteins; 0/Transcription Factors
Comment In:
Pediatr Res. 2004 Sep;56(3):321-2   [PMID:  15240865 ]

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