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Cullin-3 单核苷酸多态性 rs17479770 与中国男性汉族人群原发性高血压的相关性。

Association between Cullin-3 Single-Nucleotide Polymorphism rs17479770 and Essential Hypertension in the Male Chinese Han Population.

机构信息

School of Bioscience and Bioengineering, South China University of Technology, Guangzhou, China.

Department of Pharmacy, Guangzhou General Hospital of Guangzhou Military Command, Guangzhou, China.

出版信息

Dis Markers. 2017;2017:3062759. doi: 10.1155/2017/3062759. Epub 2017 Jul 18.

DOI:10.1155/2017/3062759
PMID:28804198
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5540270/
Abstract

BACKGROUND

Hypertension, including essential and secondary hypertension, is a multifactorial disease, affecting more than one billion people worldwide. Secondary hypertension can result from mutations of cullin-3 (); however, whether polymorphisms of are associated with essential hypertension (EH) has not been reported. Here, we investigated the association between SNPs rs17479770 and rs3738952 and EH in the Chinese Han population.

METHODS

This case-control study investigated 520 representatives, including 259 patients with EH and 261 normotensive controls matched for age, gender, BMI, TG, TC, and HbA1c for the distribution of functional rs17479770 and rs3738952 within the gene by using PCR and RFLP.

RESULTS

Our results showed that there was no significant difference in allele and genotype distribution of rs3738952 and haplotype distribution of rs17479770 and rs3738952 between the EH group and normotensive group, whereas the rs17479770 TT genotype in male and the full data set were significantly associated with the decreased risk of EH ( = 0.050, = 0.042), and rs17479770 allele T in male was shown to have the correlation tendency of the decreased risk of EH ( = 0.064).

CONCLUSION

Our data suggest that the rs17479770 variant could be a protective factor in the pathogenesis of EH.

摘要

背景

高血压,包括原发性和继发性高血压,是一种多因素疾病,影响着全球超过 10 亿人口。继发性高血压可能是由于 cullin-3 的突变引起的;然而, 是否 多态性与原发性高血压(EH)有关尚未报道。在这里,我们研究了中国汉族人群中 SNPs rs17479770 和 rs3738952 与 EH 之间的关系。

方法

本病例对照研究调查了 520 名代表,包括 259 名 EH 患者和 261 名年龄、性别、BMI、TG、TC 和 HbA1c 匹配的正常血压对照者,以研究 基因内 rs17479770 和 rs3738952 的功能多态性分布。通过 PCR 和 RFLP。

结果

我们的结果表明,rs3738952 的等位基因和基因型分布以及 rs17479770 和 rs3738952 的单倍型分布在 EH 组和正常血压组之间没有显著差异,而 rs17479770 TT 基因型在男性和全数据集与 EH 风险降低显著相关(=0.050,=0.042),rs17479770 等位基因 T 在男性中表现出 EH 风险降低的相关趋势(=0.064)。

结论

我们的数据表明, rs17479770 变体可能是 EH 发病机制的保护因素。

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