Document Detail

Risk of limb deficiency defects associated with NAT1, NAT2, GSTT1, GSTM1, and NOS3 genetic variants, maternal smoking, and vitamin supplement intake.
MedLine Citation:
PMID:  16906563     Owner:  NLM     Status:  MEDLINE    
Increasing epidemiologic evidence suggests that genetic susceptibilities contribute to birth defects risks, especially in combination with other environmental exposures. This analysis examines the association of risk of limb deficiency defects with infant genotypes for N-acetyltranferases (NAT1, NAT2), glutathione-S-tranferases (GSTT1, GSTM1), and endothelial nitric oxide synthase (NOS3). The combined effects of infant genotype with maternal smoking and supplement intake were also examined. The authors genotyped 92 cases and 201 non-malformed controls from a California population-based case-control study (1987-1988 birth cohort). Several of the infant genotypes were associated with an at least 1.5-fold increased risk for limb deficiency defects: homozygosity for the NAT1 1088 and 1095 polymorphisms, heterozygosity and homozygosity for the NOS3 A(-922)G polymorphism, and heterozygosity (but not homozygosity) for the NOS3 G894T polymorphism. The authors hypothesized that the effects of selected variant genotypes in the presence of maternal smoking, or in the absence of supplement intake, may exceed effects of any of these factors alone. A few observations suggested that risks were greatest among infants with variant genotypes, whose mothers also smoked or did not take supplements, but most did not, and risk estimates were imprecise. Further studies exploring genetic susceptibility and combined gene-environment effects with respect to limb development will be important to continued improvement of our understanding of the etiology of limb anomalies.
Suzan L Carmichael; Gary M Shaw; Wei Yang; David M Iovannisci; Edward Lammer
Related Documents :
3090113 - Subcutaneous fat necrosis in an infant, occurring after hypothermic cardiac surgery. ca...
673553 - Isovalericacidemia: a case report.
11812383 - Time of measurement influences the variability of tidal breathing parameters in healthy...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  140     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2006 Sep 
Date Detail:
Created Date:  2006-08-24     Completed Date:  2006-10-24     Revised Date:  2010-09-08    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1915-22     Citation Subset:  IM    
March of Dimes Birth Defect Foundation/California Department of Health Services, California Birth Defects Monitoring Program, Berkeley, California 94710, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Arylamine N-Acetyltransferase / genetics
Dietary Supplements
Genetic Variation
Glutathione Transferase / genetics
Isoenzymes / genetics
Limb Deformities, Congenital / epidemiology*,  genetics*
Nitric Oxide Synthase Type III / genetics
Vitamins / administration & dosage*
Grant Support
U50/CCU913241//PHS HHS
Reg. No./Substance:
0/Isoenzymes; 0/Vitamins; EC protein, human; EC Oxide Synthase Type III; EC N-Acetyltransferase; EC 1; EC protein, human; EC 2.5.1.-/glutathione S-transferase T1; EC Transferase; EC S-transferase M1

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome.
Next Document:  Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization ...