A human ALDH1A2 gene variant is associated with increased newborn kidney size and serum retinoic acid

摘要: Nephron number varies widely between 0.3 and 1.3 million per kidney in humans. During fetal life, the rate of nephrogenesis is influenced by local retinoic acid (RA) level such that even moderate maternal vitamin A deficiency limits final nephron rodents. Inactivation genes RA pathway causes renal agenesis mice; however, impact retinoids on human development unknown. To resolve this, we tested for associations variants involved metabolism (ALDH1A2, CYP26A1, CYP26B1) size among normal newborns. Homozygosity a common (1 5) variant, rs7169289(G), within an Sp1 transcription factor motif ALDH1A2 gene, showed significant 22% increase newborn volume when adjusted body surface area. Infants bearing this allele had higher umbilical cord blood levels compared to those with homozygous wild-type rs7169289(A) alleles. Furthermore, effect rs7169289(G) variant was evident subgroups or without previously reported hypomorphic RET 1476(A) proto-oncogene critical determining number. As widespread developing countries may compromise availability retinol synthesis, our study suggests might be protective individuals.