ESR1和ESR2的基因多态性可能影响雌激素活性及尿道下裂风险。
Genetic polymorphisms of ESR1 and ESR2 that may influence estrogen activity and the risk of hypospadias.
作者信息
Ban Susumu, Sata Fumihiro, Kurahashi Norie, Kasai Setsuko, Moriya Kimihiko, Kakizaki Hidehiro, Nonomura Katsuya, Kishi Reiko
机构信息
Department of Public Health, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita-ku, Sapporo 060-8638, Japan.
出版信息
Hum Reprod. 2008 Jun;23(6):1466-71. doi: 10.1093/humrep/den098. Epub 2008 Mar 27.
BACKGROUND
The etiology of hypospadias is regarded as a complex disorder with both genetic and environmental contributions. Although alterations in androgen activity have been associated with hypospadias, few associations with estrogen activity have been documented. Here, we assessed genetic polymorphisms in estrogen receptor genes and their association with hypospadias.
METHODS
Using a case-control study of 59 cases with hypospadias and 286 controls, we examined the association of hypospadias with the following polymorphisms: PvuII and XbaI in ESR1, and 2681-4A>G in ESR2.
RESULTS
For the cases, we found a negative association with the G allele containing variants of ESR1 XbaI (OR = 0.52, P < 0.05), and a negative association with the G allele containing variants of ESR2 2681-4A>G (OR = 0.59, P < 0.05). For the cases, we also identified a negative association with the CG haplotype, and a positive association with the CA haplotype, defined by ESR1 PvuII and XbaI (P < 0.05).
CONCLUSIONS
These findings suggest that the G allele containing variants of ESR1 XbaI and the G allele containing variants of ESR2 2681-4A>G may decrease the risk of hypospadias, whereas the ESR1 C-A haplotype may increase its risk.
背景
尿道下裂的病因被认为是一种复杂的疾病，受遗传和环境因素共同影响。尽管雄激素活性改变与尿道下裂有关，但与雌激素活性的关联记录较少。在此，我们评估了雌激素受体基因的遗传多态性及其与尿道下裂的关联。
方法
采用病例对照研究，纳入59例尿道下裂患者和286例对照，我们检测了尿道下裂与以下多态性的关联：ESR1基因的PvuII和XbaI多态性，以及ESR2基因的2681-4A>G多态性。
结果
在病例组中，我们发现ESR1基因XbaI多态性含G等位基因的变异与尿道下裂呈负相关（OR = 0.52，P < 0.05），ESR2基因2681-4A>G多态性含G等位基因的变异也与尿道下裂呈负相关（OR = 0.59，P < 0.05）。在病例组中，我们还发现由ESR1基因PvuII和XbaI定义的CG单倍型与尿道下裂呈负相关，CA单倍型与尿道下裂呈正相关（P < 0.05）。
结论
这些发现表明，ESR1基因XbaI多态性含G等位基因的变异和ESR2基因2681-4A>G多态性含G等位基因的变异可能降低尿道下裂的风险，而ESR1基因的C-A单倍型可能增加尿道下裂的风险。
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