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在FOXC2中发生的突变与下肢静脉中主要门衰竭密切相关
Russell H Mellor1, Glen Brice, Anthony W B Stanton
1Cardiac & Vascular Sciences, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.
Circulation
|March 21, 2007
概括
FOXC2基因的突变与静脉功能衰竭密切相关,导致腿部静脉的反流. 这一发现突显了FOXC2在保持静脉和淋巴健康方面的作用.
科学领域:
- 遗传学 是一个遗传学.
- 血管生物学 血管生物学
- 人体生理学 人体生理学
背景情况:
- 众所周知,FOXC2基因的突变会导致淋巴 edem distichiasis,一种主要的淋巴 edem 经常与静脉变有关.
- 淋巴 edem distichiasis 被假设是由于淋巴失败 (反流) 的结果.
- 特别值得注意的是,FOXC2在胚胎静脉上得到表达,这表明它可能在静脉发育中的作用.
研究的目的:
- 为了研究FOXC2突变与静脉功能衰竭和逆流相关的假设.
- 确定FOXC2基因突变与静脉功能不全的发展之间的联系.
主要方法:
- 双重超声成像被用来检查腿部的静脉系统.
- 彩色双超声波用于检测和记录参与者的病态反流.
- 统计分析,包括费舍尔精确测试,用于组之间的比较.
主要成果:
- 所有具有FOXC2突变的18名参与者都在大沙静脉中表现出病态反流.
- 在18名具有FOXC2突变的参与者中,有14名参与者在深静脉中观察到逆流.
- 在12名参考人群中,只有1人 (包括家庭成员) 出现了反流,这表明与FOXC2突变 (P<0.0001) 有着强烈的关联.
结论:
- FOXC2突变与表面和深层腿静脉的初级静脉功能衰竭密切相关.
- 这项研究确定FOXC2是第一个与主要静脉功能衰竭相关的基因.
- FOXC2基因在静脉和淋巴的适当发育和维护中起着至关重要的作用.
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