Suarez F, Rossignol C, Garabédian M
Centre National de la Recherche Scientifique, URA 583-UPR 1524, Hôpital Saint Vincent de Paul, Paris, France.
J Clin Endocrinol Metab. 1998 Oct;83(10):3563-8. doi: 10.1210/jcem.83.10.5199.
An association between vitamin D receptor (VDR) gene polymorphism and body size has been observed in infants. We hypothesized that the estradiol receptor (ER) gene is another determinant of infant growth and that the effects of the VDR and ER genotypes may interact with each other. The ER genotype (PvuII and XbaI sites), VDR genotype (BsmI site), and body size during the first 2 yr of life were analyzed in 161 healthy Caucasian full-term babies homozygous for the BsmI polymorphism of the VDR gene (BB or bb). There was no significant association between ER polymorphism and 1) body weight in boys and girls, 2) body length in girls, or 3) body length in boys with a bb genotype. In contrast, ER polymorphism and body length were significantly associated in BB boys. Boys with the BBpp genotype were shorter at birth (P < 0.005) and at 10 months of age (P < 0.001) than boys with other genotypes. They were even shorter than girls with the same genotype. These results indicate some degree of interaction between the effects of the VDR and ER genes, leading to significant variations in body growth during infancy, especially in boys.
在婴儿中已观察到维生素D受体（VDR）基因多态性与体型之间存在关联。我们推测，雌激素受体（ER）基因是婴儿生长的另一个决定因素，并且VDR和ER基因型的作用可能相互影响。对161名VDR基因BsmI多态性纯合（BB或bb）的健康白种人足月婴儿进行了ER基因型（PvuII和XbaI位点）、VDR基因型（BsmI位点）以及出生后前2年体型的分析。ER多态性与以下各项之间无显著关联：1）男孩和女孩的体重；2）女孩的身长；3）bb基因型男孩的身长。相比之下，BB基因型男孩的ER多态性与身长显著相关。BBpp基因型的男孩在出生时（P < 0.005）和10个月大时（P < 0.001）比其他基因型的男孩更矮。他们甚至比具有相同基因型的女孩更矮。这些结果表明VDR和ER基因的作用之间存在一定程度的相互影响，导致婴儿期身体生长出现显著差异，尤其是在男孩中。
