ESPE2023 Poster Category 1 Growth and Syndromes (75 abstracts)
Sex-dimorphic associations of the Prader-Willi imprinted domain with prenatal and postnatal growth in healthy infants
Gemma Carreras-Badosa 1 , Berta Mas-Parés 1 , Ariadna Gómez-Vilarrubla 2 , Elsa Puerto-Carranza 3 , Antonio de Arriba Muñoz 4 , Olivia Lafalla Bernard 5 , Anna Prats-Puig 6 , Francis de Zegher 7 , Lourdes Ibañez 8 , Andrea M Haqq 9 , Judit Bassols 2 & Abel López-Bermejo 1,3,10
1Pediatric Endocrinology Research Group, Girona Institute for Biomedical Research (IDIBGI), Girona, Spain. 2Maternal-Fetal Metabolic Research Group, Girona Institute for Biomedical Research (IDIBGI), Girona, Spain. 3Pediatrics, Dr. JosepTrueta Hospital, Girona, Spain. 4Pediatrics, Hospital Miguel Servet, Zaragoza, Spain. 5Gynecology, San Jorge Hospital, Huesca, Spain. 6University School of Health and Sport, University of Girona, Girona, Spain. 7Department of Development & Regeneration, University of Leuven, Leuven, Belgium. 8Sant Joan de Déu Children’s Hospital Pediatric Institute, University of Barcelona, Barcelona, Spain. 9Pediatric Endocrinology & Metabolism, University of Alberta, Alberta, Canada. 10Department of Medical Sciences, University of Girona, Girona, Spain
Background: Infants with Prader-Willi syndrome (PWS) exhibit stunted growth. However, little is known about the role of genes expressed from the imprinted PWS domain in healthy infants. This study aimed to analyze the relative gene expression of the SNURF-SNRPN/UBE3A cluster in the imprinted PWS domain in umbilical cord tissue, and its potential association with prenatal and postnatal growth in apparently healthy infants.
Methods: The relative gene expression of the paternally expressed genes MAGEL2, NDN, SNURF-SNRPN as well as the small nucleolar RNA (snoRNA) SNORD116 and SNORD115 were determined by RT-qPCR in umbilical cord tissue from 122 healthy newborns (59 girls and 63 boys) included in a cohort of mother-infant pairs in a region of northeastern Spain. Gene expression values were correlated with auxological measures at birth and during the first year of infancy.
Results: The relative expression of MAGEL2, NDN, SNORD116 and SNORD115 in umbilical cord associated independently and negatively with weight and length of the infant at birth, and with weight of the placenta (P˂0.0001). Postnatally, the relative expression of these genes associated independently and positively with weight and length at age 3 months (P˂0.001) and also with weight gain from birth to age 1 year (P<0.01). The negative associations at birth were stronger in girls (P<0.0001), and the positive associations during infancy were stronger in boys (P<0.001). In the latter, the postnatal growth curves during the first year of life diverged depending on the cord expression of MAGEL2, SNORD116 and SNORD115 (infants with values above the median being those with more postnatal growth).
Conclusion: The relative expression of the paternally expressed genes from the imprinted PWS domain in umbilical cord was found to associate negatively with prenatal growth and positively with early-postnatal growth in healthy infants, conceivably conferring a perinatal advantage, first to the mother-fetus pair and then to the young infant. In boys, the cord expression of such genes could help predicting weight gain during the first year of postnatal life.
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