title: Association of birth weight with polymorphisms in the IGF2, H19, and IGF2R genes.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee 38103, USA. radkins1@uthsc.edu
authors.forename: Ronald M
authors.initials: RM
authors.lastname: Adkins
authors.forename: Grant
authors.initials: G
authors.lastname: Somes
authors.forename: John C
authors.initials: JC
authors.lastname: Morrison
authors.forename: James B
authors.initials: JB
authors.lastname: Hill
authors.forename: Erin M
authors.initials: EM
authors.lastname: Watson
authors.forename: Everett F
authors.initials: EF
authors.lastname: Magann
authors.forename: Julia
authors.initials: J
authors.lastname: Krushkal
mesh_terms: D000293:Adolescent; D000328:Adult; D001724:Birth Weight / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007335:Insulin-Like Growth Factor II / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics*; D017527:Receptor, IGF Type 2 / Q000235:genetics*; D055815:Young Adult
chemical_list: C094335:H19 long non-coding RNA; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D017527:Receptor, IGF Type 2; D007335:Insulin-Like Growth Factor II