Stavrou I, Zois C, Chatzikyriakidou A, Georgiou I, Tsatsoulis A
Department of Endocrinology and Laboratory of Reproductive Genetics, University of Ioannina, 45110 Ioannina, Greece.
Hum Reprod. 2006 Feb;21(2):554-7. doi: 10.1093/humrep/dei326. Epub 2005 Oct 6.
Age at menarche has a strong genetic influence. We reported recently an association between the XbaI (351A-->C)and PvuII (397T-->C) polymorphisms of the estrogen receptor (ER)alpha gene with the age of menarche in Greek adolescents. In the present study, we examined whether ERbeta genotypes alone, or in combination with ERalpha genotypes, may also influence onset of menarche.
We performed genotyping for the single nucleotide polymorphisms 1730A-->G and 1082G-->A of the ERbeta gene and examined their association with the age of menarche in the same cohort of 145 Greek girls. We then looked for a possible effect of combined ERalpha and beta genotypes on the age of menarche.
Menarche occurred 7 months later in girls with the AA genotype of the 1730A-->G polymorphism than in girls with the AG genotype (mean +/- SD: 13.23 +/- 1.24 versus 12.66 +/- 1.26 years, respectively; P = 0.005). The 1082G-->A polymorphism was not detected in any of the girls examined. A significant effect of combined ERalpha and beta genotypes was also apparent. Menarche occurred 11 months later in girls bearing the AA/TT,AA (ERalpha, ERbeta) genotypes compared with girls with the CC/CC,AG genotype (13.30 +/- 1.27 nersus 12.41 +/- 1.28 years; P = 0.042). The difference remained significant after adjusting for body mass index (P = 0.034).
Combined ERalpha and ERbeta polymorphisms may influence the age of menarche.
初潮年龄受强大的遗传影响。我们最近报道了雌激素受体(ER)α基因的XbaI(351A→C)和PvuII(397T→C)多态性与希腊青少年初潮年龄之间的关联。在本研究中,我们检测了单独的ERβ基因型或与ERα基因型联合起来是否也会影响初潮的开始。
我们对145名希腊女孩的同一队列进行了ERβ基因单核苷酸多态性1730A→G和1082G→A的基因分型,并检测它们与初潮年龄的关联。然后我们探寻ERα和β基因型联合对初潮年龄的可能影响。
1730A→G多态性AA基因型女孩的初潮时间比AG基因型女孩晚7个月(分别为平均±标准差:13.23±1.24岁和12.66±1.26岁;P = 0.005)。在所检测的任何女孩中均未发现1082G→A多态性。ERα和β基因型联合也有显著影响。携带AA/TT、AA(ERα,ERβ)基因型的女孩与携带CC/CC、AG基因型的女孩相比,初潮时间晚11个月(13.30±1.27岁对12.41±1.28岁;P = 0.042)。校正体重指数后,差异仍显著(P = 0.034)。
ERα和ERβ多态性联合可能影响初潮年龄。