中国汉族终末期肾病透析患者中EHBP1基因单核苷酸多态性与血脂异常的关联

Association between the EHBP1 SNPs and dyslipidemia in the end-stage renal disease patients with dialysis in Chinese Han population.

作者信息

Lai Yan-Fei, Liang Zhong-E, Wu Chun-Xiang, Zhang Min, Shi Zong-Hu, Meng Xiao-Yan, Liu Chun-Xiao

机构信息

Department of Nephrology, The Fourth Affiliated Hospital, Guangxi Medical University, Liuzhou, Guangxi, 545005, People's Republic of China.

Department of Prevention and Health Care, The Fourth Affiliated Hospital, Guangxi Medical University, Liuzhou, Guangxi, 545005, People's Republic of China.

出版信息

Lipids Health Dis. 2024 Dec 27;23(1):422. doi: 10.1186/s12944-024-02407-3.

DOI:10.1186/s12944-024-02407-3

PMID:39731114

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11681726/

Abstract

BACKGROUND

Lipid metabolism is influenced by mutations in the EH domain binding protein 1 gene (EHBP1). This study investigated the link between the EHBP1 single-nucleotide polymorphisms (SNPs) and dyslipidemia risks in maintenance dialysis patients with end-stage renal disease in Chinese Han population.

METHODS

A total of 539 patients were divided into dyslipidemia (379) and control (160) groups. The patients with dyslipidemia were divided into four subgroups: high low-density lipoprotein cholesterol, low high-density lipoprotein cholesterol (HDLC), high triglyceride (TG) and high total cholesterol groups. The genotype distributions of three EHBP1 SNPs (rs2710642, rs10496099 and rs1168816) were determined by high-throughput sequencing technology and were analyzed via generalized multifactor dimension reduction and binary logistic regression analysis.

RESULTS

The high-TG and control groups differed in terms of the genotype frequency of the rs2710642. One haplotype was detected in both the dyslipidemia and high-TG groups. The risk of dyslipidemia was 2.72-fold higher in participants with rs2710642GG compared with those of rs2710642AA and 2.62-fold higher compared with those with rs2710642AA + GA. Subjects who carried rs2710642GG had a 2.94 times greater risk of high TG levels than those who carried rs2710642AA and a 2.89 times greater risk than those who carried rs2710642AA + GA. Compared with those who carried rs2710642AA + GA, those who carried rs2710642GG were 2.53 times more likely to have low HDLC levels. The rs2710642-body mass index (BMI) (≥ 24 kg/m) and rs11688816A-rs2710642G haplotype interactions increased the risk of dyslipidemia, and the rs2710642-BMI (≥ 24 kg/m) interaction increased the risk of high TG levels. The rs10496099-rs2710642 and rs10496099-rs2710642-rs11688816 interactions increased the risk of low HDLC levels.

CONCLUSIONS

These results suggest that the EHBP1 rs2710642G and rs2710642GG and interactions with rs11688816A or BMI (≥ 24 kg/m) were linked to higher dyslipidemia risks in end-stage renal disease patients in Chinese Han population.

摘要

背景

脂质代谢受EH结构域结合蛋白1基因（EHBP1）突变的影响。本研究调查了中国汉族人群中终末期肾病维持性透析患者EHBP1单核苷酸多态性（SNP）与血脂异常风险之间的联系。

方法

共539例患者分为血脂异常组（379例）和对照组（160例）。血脂异常患者分为四个亚组：高低密度脂蛋白胆固醇组、低高密度脂蛋白胆固醇（HDLC）组、高甘油三酯（TG）组和高总胆固醇组。采用高通量测序技术测定三个EHBP1 SNP（rs2710642、rs10496099和rs1168816）的基因型分布，并通过广义多因素降维和二元逻辑回归分析进行分析。

结果

rs2710642的基因型频率在高TG组和对照组之间存在差异。在血脂异常组和高TG组中均检测到一种单倍型。与rs2710642AA相比，rs2710642GG参与者患血脂异常的风险高2.72倍，与rs2710642AA + GA相比高2.62倍。携带rs2710642GG的受试者患高TG水平的风险比携带rs2710642AA的受试者高2.94倍，比携带rs2710642AA + GA的受试者高2.89倍。与携带rs2710642AA + GA的受试者相比，携带rs2710642GG的受试者HDLC水平低的可能性高2.53倍。rs2710642-体重指数（BMI）（≥24 kg/m²）和rs11688816A-rs2710642G单倍型相互作用增加了血脂异常的风险，rs2710642-BMI（≥24 kg/m²）相互作用增加了高TG水平的风险。rs10496099-rs2710642和rs10496099-rs2710642-rs11688816相互作用增加了低HDLC水平的风险。