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Endocrine Abstracts (2023) 90 P728 | DOI: 10.1530/endoabs.90.P728

ECE2023 Poster Presentations Reproductive and Developmental Endocrinology (108 abstracts)

Polygenic Score for Dizygotic Twinning in Mothers of Spontaneously and Artificially Conceived Twins and Singletons

Nikki Hubers 1,2,3 , Christian Page 4 , Hamdi Mbarek 1,2,5 , Nils Lambalk 2 , Lannie Ligthart 1 , René Pool 1,3 , Jouke Jan Hottenga 1 , Jenny van Dongen 1,2,3 , Siri Håberg 4 , Erik Ehli 6 , Jennifer Harris 4 , Gonneke Willemsen 1,2,3 & Dorret Boomsma 1,2,3


1Vrije Universiteit Amsterdam, Biological Psychology, Amsterdam, Netherlands; 2Amsterdam Reproduction and Development, Netherlands; 3Amsterdam Public Health, Netherlands; 4Norwegian Institute of Public Health, The Centre for Fertility and Health, Norway; 5Qatar Genome Program, Development and Innovation, Qatar; 6Avera Institute for Human Genetics, Sioux Falls, United States


Spontaneous dizygotic (DZ) twinning results from a double ovulation and runs in families indicating a genetic component. Endocrinology studies in mothers of DZ twins observed higher levels of follicle stimulation hormone (FSH) and FSHB was, together with SMAD3, one the first loci identified as genome wide significant in genome-wide association studies (GWAS) of having DZ twins. Several additional loci were recently found that indicate genes involved with female endocrinology and fertility such as FSHR, and GNRH1. A polygenic score (PGS) for spontaneous DZ twinning, which summarises an individual’s genetic risk, explained ~1.5% of the phenotypic variance when comparing mothers of spontaneously conceived DZ twins to controls. Here we compare the PGS in mothers of spontaneously conceived DZ twins with other twin mothers in the Netherlands twin register (NTR) and in the Norwegian Mother, Father and Child Cohort Study (MoBa). In the NTR, we contrast the PGSs and several demographic and lifestyle traits in four groups (n=34.895): those who conceived DZ or monozygotic (MZ) twins spontaneously, and those who conceived DZ or MZ twins through artificial reproductive techniques (ART) with logistic regression. Mothers of spontaneously conceived DZ twins differed in maternal age, body composition, parity and smoking behavior compared to the other groups. The PGSs (n=4.498), both corrected and uncorrected for these demographic and lifestyle traits, were higher in mothers of spontaneously conceived DZ twins compared to all other twin mothers, whereas the PGSs of the other three groups did not differ. We are currently conducting the PGS analyses in mothers of twins and singletons from MoBa (n=approximately 95.000 mothers). Our study shows that mothers of spontaneously conceived DZ twins are genetically different, and also differ in demographics and lifestyle traits compared to the other groups of twin mothers. Further endocrine, metabolomics and gene expression studies are required to help elucidate underlying processes.

Volume 90

25th European Congress of Endocrinology

Istanbul, Turkey
13 May 2023 - 16 May 2023

European Society of Endocrinology 

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