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

作　　者：Berta Mas‑Parés Gemma Carreras‑Badosa Ariadna Gómez‑Vilarrubla Antonio De Arriba‑Munoz Olivia Lafalla‑Bernard Anna Prats‑Puig Francis De Zegher Lourdes Ibañez Andrea MHaqq Judit Bassols Abel Lopez‑Bermejo 

机构地区：[1]Pediatric Endocrinology,Girona Biomedical Research Institute,Hospital Dr.JosepTrueta,17007 Girona,Spain [2]Materno‑Fetal Research,Girona Biomedical Research Institute,Parc Hospitalari Marti I Julia,Edifici M2,Salt,17190 Girona,Spain [3]Pediatric Endocrinology Unit,Miguel Servet Hospital,Saragossa,Spain [4]San Jorge Hospital,Huesca,Spain [5]University School of Health and Sport(EUSES),University of Girona,Girona,Spain [6]Department of Development&Regeneration,University of Leuven,Louvain,Belgium [7]Endocrinology,Sant Joan de Deu Children’s Hospital Pediatric Institute,University of Barcelona,Barcelona,Spain [8]Pediatric Endocrinology and Metabolism,University of Alberta,Alberta,Canada [9]Pediatrics,Dr.Josep Trueta Hospital,Girona,Spain [10]Departament de Ciencies Mediques,Universitat de Girona,Girona,Spain

出　　处：《World Journal of Pediatrics》2025年第1期100-112,共13页世界儿科杂志(英文版)

基　　金：supported by grants from the Ministerio de Ciencia e Innovacion,Instituto de Salud Carlos Ⅲ(ISCⅢ),Madrid,Spain(PI19/00451 and PI22/00366 to LBA and PI20/00399 and PI23/00545 to BJ);project co-funded by FEDER(Fondo Europeo de Desarrollo Regional);funded by the grant INVESTAEP edition 2019 from the Spanish Pediatric Association.

摘　　要：Background The impact of Prader–Willi syndrome(PWS)domain gene expression on the growth of healthy children is not well understood.This study investigated associations between PWS domain gene expression in umbilical cord tissue and prenatal and postnatal growth,considering potential sex differences.Methods Relative gene expression of paternally expressed MAGEL2,NDN,and SNURF-SNRPN,and the small nucleolar RNAs SNORD116 and SNORD115 were determined by real-time quantitative polymerase chain reaction in umbilical cord tissue from 122 healthy newborns(59 girls and 63 boys).Gene expression levels were correlated with auxological measures at birth,infancy,and childhood(ages 2,4,and 6 years).Results MAGEL2,NDN,SNORD116,and SNORD115 expression in the umbilical cord was negatively associated with birth weight,length,and placental weight(P<0.001).Postnatally,these genes were positively associated with weight and length at 3 months(P<0.001)and weight gain from birth to ages 1,2,and 4 years(P<0.01).Negative associations at birth were stronger in girls(P<0.001),while positive associations during infancy and childhood were stronger in boys(P<0.001).MAGEL2,SNORD116,and SNORD115 expression predicted early-postnatal growth,explaining the higher growth rate in boys compared to girls and accounting for sex differences up to 1.5 kg in weight and 3 cm in height during infancy.Conclusions Paternally expressed PWS domain gene expression in the umbilical cord was negatively associated with prenatal growth and positively with early-postnatal growth in healthy infants.This gene expression may predict early human postnatal growth and promote the well-known sex dimorphism in growth.These results can also help in understanding the etiology of PWS,which remains unclear.

关 键 词：Gene expression IMPRINTING Postnatal growth Prader-Willi syndrome Sexual dimorphism 

分 类 号：R725.9[医药卫生—儿科]