肌醇多磷酸磷酸酶样1（INPPL1，SHIP2）基因变异与原发性高血压的遗传关联分析。
Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension.
作者信息
Marçano Ana Carolina Braga, Burke Beverley, Gungadoo Johannie, Wallace Chris, Kaisaki Pamela J, Woon Peng Y, Farrall Martin, Clayton David, Brown Morris, Dominiczak Anna, Connell John M, Webster John, Lathrop Mark, Caulfield Mark, Samani Nilesh, Gauguier Dominique, Munroe Patricia B
出版信息
J Med Genet. 2007 Sep;44(9):603-5. doi: 10.1136/jmg.2007.049718. Epub 2007 Jun 8.
BACKGROUND
Inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) is a negative regulator of insulin signalling and has previously been found to be associated with hypertension, obesity and type 2 diabetes in a cohort of families with diabetes in the UK presenting features of metabolic syndrome. In particular, a haplotype of three genetic polymorphisms (rs2276047, rs9886 and an insertion/deletion polymorphism in intron 1) was found to be strongly associated with increased susceptibility to hypertension.
OBJECTIVE AND METHODS
To assess if INPPL1 variants play a direct role in the development of essential hypertension, we genotyped the three previously associated INPPL1 polymorphisms in a cohort of 712 families with severe hypertension from the BRIGHT study transmission disequilibrium test cohort.
RESULTS
We found no evidence of significant association between hypertension and any of the three INPPL1 polymorphisms or haplotypes (p>0.1).
CONCLUSION
These results suggest that INPPL1 variants may be involved in mechanisms causing hypertension in metabolic syndrome patients specifically.
背景
肌醇多磷酸磷酸酶样1（INPPL1，SHIP2）是胰岛素信号传导的负调节因子，此前在英国一组具有代谢综合征特征的糖尿病家族队列中发现它与高血压、肥胖和2型糖尿病有关。特别是，发现一种由三个基因多态性（rs2276047、rs9886和内含子1中的插入/缺失多态性）组成的单倍型与高血压易感性增加密切相关。
目的和方法
为了评估INPPL1基因变异是否在原发性高血压的发生中起直接作用，我们对BRIGHT研究传递不平衡测试队列中的712个重度高血压家族进行了基因分型，检测了先前发现的三个与INPPL1相关的多态性。
结果
我们没有发现高血压与三个INPPL1多态性或单倍型中的任何一个之间存在显著关联的证据（p>0.1）。
结论
这些结果表明，INPPL1基因变异可能特别参与了代谢综合征患者高血压的发病机制。
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