Document Detail

Association of birth weight with polymorphisms in the IGF2, H19, and IGF2R genes.
MedLine Citation:
PMID:  20639793     Owner:  NLM     Status:  MEDLINE    
There is a substantial genetic component for birth weight variation. We tested 18 single nucleotide polymorphisms (SNPs) in the IGF2, H19, and IGF2R genes for associations with birth weight variation in 342 mother-newborn pairs (birth weight 2.1-4.7 kg at term) and 527 parent-newborn trios (birth weight 2.1-5.1 kg) across three localities. SNPs in the IGF2R (rs8191754; maternal genotype), IGF2 (rs3741205; newborn genotype), and 5' region of the H19 (rs2067051, rs2251375, and rs4929984) genes were associated with birth weight. Detailed analyses to distinguish direct maternal, direct newborn, and parent of origin effects for the most strongly associated H19 SNP (rs4929984) determined that the association of maternal genotype with newborn birth weight was due to parent of origin effects not direct maternal effects. That SNP is located near the CTCF binding sites that influence expression of the maternally imprinted IGF2 and paternally imprinted H19 locus, and there are statistically significant and independent opposite effects of the same rs4929984 allele, depending on the parent from which it was inherited.
Ronald M Adkins; Grant Somes; John C Morrison; James B Hill; Erin M Watson; Everett F Magann; Julia Krushkal
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric research     Volume:  68     ISSN:  1530-0447     ISO Abbreviation:  Pediatr. Res.     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-13     Completed Date:  2011-02-01     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  429-34     Citation Subset:  IM    
Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee 38103, USA.
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MeSH Terms
Birth Weight / genetics*
Gene Frequency
Infant, Newborn
Insulin-Like Growth Factor II / genetics*
Polymorphism, Single Nucleotide*
RNA, Long Untranslated
RNA, Untranslated / genetics*
Receptor, IGF Type 2 / genetics*
Young Adult
Grant Support
HD055462/HD/NICHD NIH HHS; M01-RR00211/RR/NCRR NIH HHS; R01 HD055462-01A1/HD/NICHD NIH HHS; R01 HD055462-02/HD/NICHD NIH HHS; R01 HD055462-03/HD/NICHD NIH HHS
Reg. No./Substance:
0/H19 long non-coding RNA; 0/RNA, Long Untranslated; 0/RNA, Untranslated; 0/Receptor, IGF Type 2; 67763-97-7/Insulin-Like Growth Factor II

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

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