Wang Hong-mei, Li Nan-fang, Hong Jing, Yao Xiao-guang, Luo Wen-li, Chang Jian-hang
Department of Hypertension, Hypertension Institute of Xinjiang Uygur Autonomous Region, Urumqi 830001, China.
Zhonghua Xin Xue Guan Bing Za Zhi. 2010 Oct;38(10):918-22.
To investigate the association between a functional rs4149601 polymorphism of neural precursor cell expressed developmentally downregulated 4-like gene (NEDD4L) and essential hypertension in Kazakh.
In this population-based association study, the genotypes of rs4149601 polymorphism were identified by TaqMan PCR in 883 subjects (male 375 383 hypertensives) and its distribution and relationship to hypertension were studied. The association between haplotype (rs4149601, 296921-296923delTTG, rs2288774 and rs2288775, the last three polymorphisms are representative variations identified from 94 Kazakh hypertensive individuals by screening the functional region of NEDD4L previously) and hypertension was also investigated.
The genotype distribution of rs4149601 polymorphism was in Hardy-Weinberg equilibrium. The genotype distribution of rs4149601 polymorphism was similar between the essential hypertension patients and the control individuals (all P > 0.05). In the haplotype-based case-control analysis, the distribution of the haplotypes was not significantly different between the case and the control individuals in total and in male subjects but the frequency of D-C-G-G (296921-3delTTG/rs2288774/rs2288775/rs4149601) haplotype was significantly higher in hypertensive than in control individuals in female (P = 0.026).
Our results suggested that D-C-G-G haplotype of NEDD4L but not rs4149601 polymorphism was linked with hypertension in Kazakh.
研究神经前体细胞表达发育下调4样基因（NEDD4L）功能性rs4149601多态性与哈萨克族原发性高血压之间的关联。
在这项基于人群的关联研究中，采用TaqMan PCR技术对883名受试者（男性375名，高血压患者383名）的rs4149601多态性基因型进行鉴定，并研究其分布及与高血压的关系。同时还研究了单倍型（rs4149601、296921 - 296923delTTG、rs2288774和rs2288775，后三个多态性是先前通过筛选NEDD4L功能区从94名哈萨克族高血压个体中鉴定出的代表性变异）与高血压之间的关联。
rs4149601多态性的基因型分布符合Hardy-Weinberg平衡。原发性高血压患者与对照个体之间rs4149601多态性的基因型分布相似（所有P>0.05）。在基于单倍型的病例对照分析中，总体和男性受试者中病例组与对照组之间单倍型分布无显著差异，但在女性中，高血压患者的D-C-G-G（296921-3delTTG/rs2288774/rs2288775/rs4149601）单倍型频率显著高于对照组（P = 0.026）。
我们的结果表明，NEDD4L的D-C-G-G单倍型而非rs41496多态性与哈萨克族的高血压有关。
