Voorhoeve Paul G, van den Akker Erica L T, Lamberts Steven W J, Delemarre-van de Waal Henriette A, Hokken-Koelega Anita C S
Department of Pediatric Endocrinology, Canisius-Wilhelmina Hospital, Nijmegen, The Netherlands.
Horm Res. 2009;71(3):162-6. doi: 10.1159/000197873. Epub 2009 Feb 3.
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.
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.
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.
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.
背景/目的：糖皮质激素是胚胎生长发育以及脂肪和葡萄糖代谢等诸多过程的重要调节因子。糖皮质激素通过糖皮质激素受体（GR）发挥作用。本研究旨在探讨4种著名的GR基因单倍型与出生时体格大小之间可能存在的关联。
我们在一个荷兰参考队列中研究了GR单倍型与出生时体格大小之间的关联。该参考队列由222名年轻健康的白种人受试者组成。对出生时体格大小与糖皮质激素受体基因单倍型之间的关联进行了检测。此外，我们还研究了一组119名小于胎龄儿（SGA）且无追赶生长的儿童。比较了SGA组与参考队列中不同GR单倍型的患病率。
在参考组中，未发现任何GR单倍型与出生体重或出生身长之间存在关联。与对照组相比，SGA组中GR单倍型2（Bcl1）的患病率显著更低。
GR的基因变异似乎与一般人群的宫内生长无关。然而，GR单倍型可能在SGA出生儿童的生长中起作用，这一点通过该组中GR单倍型2（Bcl1）患病率的降低得以体现。
