Common polymorphism in H19 associated with birthweight and cord blood IGF-II levels in humans

摘要: Common genetic variation at genes that are imprinted and exclusively maternally expressed could explain the apparent maternal-specific inheritance of low birthweight reported in large family pedigrees. We identified ten single nucleotide polymorphisms (SNPs) H19, we genotyped three these SNPs families from contemporary ALSPAC UK birth cohort (1,696 children, 822 mothers 661 fathers) order to explore associations with size cord blood IGF-II levels. Both offspring's mother's H19 2992C>T SNP genotypes showed offspring (P = 0.03 P 0.003) genotype was also associated levels 0.0003 0.0001). The association independent 0.01 0.007). However, untransmitted 2992T allele larger 0.04) higher 0.002), suggesting a direct effect on placental expression fetal growth. between more first pregnancies than subsequent (P-interaction 0.03). Study Cambridge available DNA (N 646) provided additional support for 2992 glucose 0.01) pregnancies. common allele, mother or both, may confer reduced growth restraint, as indicated by size, levels, lower compensatory early postnatal catch-up weight gain, evident among smaller first-born infants.