血 natriuretic 水平的遗传性和遗传联系
Thomas J Wang1, Martin G Larson, Daniel Levy
1Framingham Heart Study, MA 01702-5827, USA.
Circulation
|June 25, 2003
概括
遗传因素显著影响尿素水平,影响盐平衡和血压调节. 这项研究揭示了血N-终端亲性尿素 (N-ANP) 和脑内尿素 (BNP) 水平的遗传性.
科学领域:
- 心血管遗传学 心血管遗传学
- 内分泌学 在内分泌学.
- 人体生理学 人体生理学
背景情况:
- 尿酸对于维持液体平衡和血压至关重要.
- 尿素水平的个体间差异可能会影响对高血压和液体过载的易感性.
- 遗传因素对天然尿素水平变化的贡献尚未得到充分理解.
研究的目的:
- 为了研究血N-终端亲性尿素 (N-ANP) 和脑内性尿素 (BNP) 水平的遗传性.
- 为了确定与天然尿素调节相关的潜在遗传位置.
主要方法:
- 1914年弗雷明汉研究参与者血N-ANP和BNP水平的分析.
- 应用差异组件方法 (SOLAR) 来估计遗传性.
- 使用10cM密度基因组扫描对来自大家庭的1142名参与者的全基因组链接分析.
主要成果:
- 在考虑了临床和心声学因素后,对log N-ANP和log BNP的遗传概率估计分别为0.44和0.35 (P<0.0001).
- 年龄,临床和心声学变量解释了42% (男性) 和27% (女性) 的N-ANP变化,以及40% (男性) 和21% (女性) 的BNP变化.
- 对N-ANP和BNP的暗示性联系分别在2p25和12p13染色体上被确定.
结论:
- 血 natriuretic水平的不明原因变化的很大一部分是由于附加的遗传效应.
- 这些发现凸显了遗传学在调节尿素水平方面的作用.
- 需要进一步的研究,包括候选基因研究,以确定特定的遗传调节者.
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