Background/Aims: Glucocorticoids are important regulators of many processes involved in embryonal growth and development and fat and glucose metabolism. Glucocorticoids exert their effect through the glucocorticoid receptor (GR). The aim of this study was to investigate possible associations between 4 well-known GR gene haplotypes and size at birth. Methods: We investigated associations between GR haplotypes and size at birth in a Dutch reference cohort. This reference cohort consisted of 222 young healthy Caucasian subjects. Associations between size at birth and glucocorticoid receptor gene haplotypes were tested. Furthermore, we investigated a group of 119 children born small for gestational age (SGA), without catch-up growth. Prevalence of the different GR haplotypes was compared between the SGA group and the reference cohort. Results: No associations were found between any of the GR haplotypes and birth weight or birth length in the reference group. The prevalence of GR haplotype 2 (Bcl1) was significantly lower in the SGA group compared to controls. Conclusion: Genetic variance in the GR seems not to be associated with intrauterine growth in the general population. However, GR haplotype might play a role in growth of children born SGA, reflected by the decreased prevalence of GR haplotype 2 (Bcl1) in this group. Copyright

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Keywords Birth weight, Catch-up growth, Glucocorticoid receptor, Small for gestational age
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Voorhoeve, P.G., van den Akker, E.L.T., Lamberts, S.W.J., Delemarre-Van de Waal, H.A., & Hokken-Koelega, A.C.S.. (2009). Glucocorticoid receptor gene polymorphism is less frequent in children born small for gestational age without catch-up growth. Hormone Research, 71(3), 162–166. doi:10.1159/000197873