Document Detail


Thymidylate synthase polymorphisms and risk of conotruncal heart defects.
MedLine Citation:
PMID:  22887475     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In this study, we investigated whether the two TYMS functional variants (28 bp VNTR and 1494del6) (275 cases and 653 controls) and six selected SNPs (265 case infants, 535 control infants; 169 case mothers and 276 control mothers) were associated with risks of conotruncal heart defects. Further, we evaluated interaction effects between these gene variants and maternal folate intake for risk of CTD. Cases with diagnosis of single gene disorders or chromosomal aneusomies were excluded. Controls were randomly selected from area hospitals in proportion to their contribution to the total population of live-born infants. DNA samples were collected using buccal brushes or drawn from the repository of newborn screening blood specimens when available. Genetic variants were treated as categorical variables (homozygous referent, heterozygote, homozygous variant). Odds ratios and 95% confidence intervals (CI) were computed to estimate risks among all subjects, Hispanic and non-Hispanic whites, respectively, using logistic regression. Gene-folate interactions were assessed for these variants by adding an interaction term to the logistic model. A dichotomized composite variable, "combined folate intake," was created by combining maternal peri-conceptional use of folic acid-containing vitamin supplements with daily dietary intake of folate. In general, the results do not show strong gene-only effects on risk of CTD. We did, however, observe a 3.6-fold increase in CTD risk (95% CI: 1.1-11.9) among infants who were homozygotes for the 6 bp deletion in the 3'-untranslated region (UTR) (1694del6) and whose mothers had low folate intake during the peri-conceptional period.
Authors:
Huiping Zhu; Wei Yang; Nathan Shaw; Spencer Perloff; Suzan L Carmichael; Richard H Finnell; Gary M Shaw; Edward J Lammer
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.     Date:  2012-08-07
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  158A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-08-28     Completed Date:  2012-11-09     Revised Date:  2013-09-03    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2194-203     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Affiliation:
Department of Nutritional Sciences, Dell Pediatric Research Institute, The University of Texas at Austin, Austin, Texas, USA.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Case-Control Studies
DNA Primers
Heart Defects, Congenital / enzymology,  genetics*
Humans
Infant, Newborn
Polymerase Chain Reaction
Polymorphism, Single Nucleotide*
Risk Factors
Thymidylate Synthase / genetics*
Grant Support
ID/Acronym/Agency:
HL077708/HL/NHLBI NIH HHS; HL085859/HL/NHLBI NIH HHS; R01 HL077708-05/HL/NHLBI NIH HHS; R21 HD058912/HD/NICHD NIH HHS; U50/CCU913241//PHS HHS
Chemical
Reg. No./Substance:
0/DNA Primers; EC 2.1.1.45/Thymidylate Synthase
Comments/Corrections

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