Estrogen receptor polymorphism, estrogen content and idiopathic scoliosis in human: A possible genetic linkage
Estrogen receptor polymorphism, estrogen content and idiopathic scoliosis in human: A possible genetic linkage
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DOI：
10.1016/j.jsbmb.2009.04.010
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发表时间：
2009-08-01
影响因子：
4.1
通讯作者：
Varriale, B.
中科院分区：
文献类型：
--
作者：
Esposito, T.;Uccello, R.;Varriale, B.
特发性脊柱侧凸（IS）是一种广泛分布于人类的疾病，其发病机制至今仍不清楚。脊柱侧凸表型与患者年龄之间存在相关性，因为在早期阶段，病理学显示青少年男女之间的比例为50%。在青春期，性别比为8.4/1（女性/男性），表明该疾病的性条件表现。特发性脊柱侧凸的遗传尚不清楚，尽管有些学者认为其为X连锁显性遗传。有很大的协议，在考虑作为一个性条件的疾病，在类固醇含量和它们的受体活性，虽然没有证据已经被发现you.The血液中的17 β-雌二醇含量的青少年与IS显示低于同龄的青少年没有IS。此外，IS女孩的睾酮和孕酮含量低于对照女孩。此外，我们从IS患者及其亲属直到第三代的白色血细胞中提取DNA，以检查雌激素受体α多态性，认为该工具是IS预后的合理分子标志物。在这方面，我们确定了四个多态性的外显子编码类固醇结合域和其他两个在反式激活域。我们的研究结果表明，与IS的临床表现有明确的关系。(C)2009爱思唯尔有限公司版权所有。
Idiopathic scoliosis (IS) is a largely diffused disease in human population but its pathogenesis is still unknown. There is a relationship between scoliotic phenotype and the patient age, since in the early stage the pathology shows a ratio of 50% between male and female teenagers. During puberty the sex ratio is 8.4/1 (female/male), suggesting a sex-conditioned manifestation of the disease. Genetic inheritance of idiopathic scoliosis is still unclear although some authors claim for its X-linked dominant inheritance. There is large agreement in considering the IS as a sex-conditioned disease, in terms of steroid content and their receptor activity, although no evidence has been found yet.The blood content of 17 beta-estradiol in teenagers with IS shows lower levels than teenagers of the same age without IS. Also testosterone and progesterone content are lower in IS girls with respect to the control girls. Furthermore, we extracted DNA from white blood cells of IS patients and their relatives until the third generation in order to examine estrogen receptor alpha polymorphisms, considering this tool a plausible molecular marker for IS prognosis. In this respect, we identified four polymorphisms in the exons encoding for the steroid binding domain and two other in the trans-activation domain. Our results show a clear relationship with clinical manifestation of IS. (C) 2009 Elsevier Ltd. All rights reserved.