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Association of Birth Weight with Polymorphisms in the IGF2, H19 and IGF2R Genes
- Publication Year :
- 2010
-
Abstract
- There is a substantial genetic component to birth weight variation. We tested eighteen 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 in the 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.
- Subjects :
- Adult
Male
medicine.medical_specialty
RNA, Untranslated
Adolescent
Genotype
Birth weight
Single-nucleotide polymorphism
Locus (genetics)
Biology
Polymorphism, Single Nucleotide
Genetic determinism
Article
Receptor, IGF Type 2
Young Adult
Gene Frequency
Insulin-Like Growth Factor II
Internal medicine
medicine
Birth Weight
Humans
Allele
Allele frequency
Genetics
Maternal effect
Infant, Newborn
female genital diseases and pregnancy complications
Endocrinology
Pediatrics, Perinatology and Child Health
Female
RNA, Long Noncoding
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....c019df08c4ce3020951db6a314d850f5