Sex dimorphic associations of Prader–Willi imprinted gene expressions in umbilical cord with prenatal and postnatal growth in healthy infants

Berta Mas-Pares; Gemma Carreras-Badosa; Ariadna Gomez-Vilarrubl; Arriba-Munoz Antonio De; Olivia Lafalla-Bernard; Anna Prats-Puig; Zegher Francis De; Lourdes Ibanez; Andrea M. Haqq; Judit Bassols; Abel Lopez-Bermejo

doi:10.1530/ey.22.2.9

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ESPE Yearbook of Paediatric Endocrinology (2025) 22 2.9 | DOI: 10.1530/ey.22.2.9

ESPEYB25 2. Antenatal and Neonatal Endocrinology Genomic Screening, New Gene Associations (3 abstracts)

2.9. Sex dimorphic associations of Prader-Willi imprinted gene expressions in umbilical cord with prenatal and postnatal growth in healthy infants

Berta Mas-Pares , Gemma Carreras-Badosa , Ariadna Gomez-Vilarrubl , Antonio De Arriba-Munoz , Olivia Lafalla-Bernard , Anna Prats-Puig , Francis De Zegher , Lourdes Ibañez , Andrea M. Haqq , Judit Bassols & Abel Lopez-Bermejo

World J Pediatr 2025 Jan;21(1):100-112. doi: 10.1007/s12519-024-00865-4

Brief Summary: This study examined the association of multiple genes located in the Prader-Willi Syndrome locus on the growth of healthy children, using real-time PCR in umbilical cord tissue to look at relative gene expression. The genes tested included MAGEL2, NDN, and SNURF-SNRPN, and the small nucleolar RNAs SNORD116 and SNORD115; all of these are exclusively transcribed from the paternal allele. It is already known that paternally expressed genes tend to favor prenatal growth and that several of the genes in the PWS locus are expressed in the hypothalamus and regulate appetite, GH secretion, and puberty.

122 healthy newborns (59F, 63M) were recruited from Northern Spain following a normal conception, pregnancy and delivery. Anthropometric assessments were performed at birth and in follow-up at several time points (9) up to age 6 years. MAGEL2, NDN, SNORD116, and SNORD115 expression in umbilical cord tissue was negatively associated with birthweight, length, and placental weight; these associations were stronger in girls. After birth, these genes were positively associated with growth, with a stronger association in boys. MAGEL2, SNORD116, and SNORD115 expression predicted early postnatal growth, explaining the higher growth rate in boys compared to girls and accounting for sex differences of up to 1.5 kg in weight and 3 cm in height during infancy. Key insights from this paper suggest that the Prader-Willi Syndrome locus may be important for post-natal growth and sexual dimorphism in growth.