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目的探讨神经前体细胞表达发育调控蛋白4(NEDD4)基因功能区的多态位点与新疆哈萨克族人高血压病的相关性。方法采取以流行病学调查为基础的病例对照研究,选择938例哈萨克族自然人群(包括451例高血压患者和487例对照)作为研究对象。首先测序筛查哈萨克族高血压病患者NEDD4基因功能区的变异位点,选择代表性变异位点应用TaqMan-PCR在自然人群中进行基因型鉴定及病例对照关联研究。结果在NEDD4基因的功能区共发现13个新的和15个已知的变异位点,其中包括7个错义突变。NEDD4基因的9个代表性变异位点中,4个低频率的错义突变不是哈萨克族人高血压病特有的变异,5个常见单核苷酸多肽及其组成的各单倍型在高血压病例与对照组间的频率分布差异无显著性(P>0.05)。结论NEDD4基因遗传变异与哈萨克族人高血压病无相关性。
Objective To investigate the relationship between polymorphisms of NEDD4 gene expression in hypertension and Kazakh population in Xinjiang Uygur Autonomous Region. Methods A case-control study based on epidemiological investigation was conducted. A total of 938 Kazakh natural persons (including 451 hypertensive patients and 487 controls) were selected as the study subjects. Firstly, the site of variation of NEDD4 gene function in Kazak Hypertension patients was screened and sequenced. TaqMan-PCR was used to select the representative variation sites for genotyping and case-control study in natural populations. Results A total of 13 new and 15 known variation sites were found in the functional regions of NEDD4 gene, including 7 missense mutations. Of the 9 representative variation sites of NEDD4 gene, 4 low-frequency missense mutations are not unique to Kazakh, and five common single nucleotide polymorphisms and their haplotypes are found in patients with hypertension There was no significant difference in frequency distribution between control group and control group (P> 0.05). Conclusion There is no correlation between genetic variation of NEDD4 gene and Kazak Hypertension.