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APOA1/C3/A4/A5-ZPR1-BUD13基因簇的功能多态性与血脂异常存在性别特异性关联。

Functional polymorphisms of the APOA1/C3/A4/A5-ZPR1-BUD13 gene cluster are associated with dyslipidemia in a sex-specific pattern.

作者信息

Bai Wei, Kou Changgui, Zhang Lili, You Yueyue, Yu Weiying, Hua Wanqing, Li Yuanyuan, Yu Yaqin, Zhao Tiancheng, Wu Yanhua

机构信息

Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun, Jilin Province, China.

Department of Endoscopy Center, China-Japan Union Hospital of Jilin University, Changchun, Jilin Province, China.

出版信息

PeerJ. 2019 Jan 4;6:e6175. doi: 10.7717/peerj.6175. eCollection 2019.

DOI:10.7717/peerj.6175
PMID:30631647
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6322487/
Abstract

BACKGROUND

Dyslipidemia contributes to the risk of many diseases, including stroke, cardiovascular disease and metabolic-related diseases. Previous studies have indicated that single nucleotide polymorphisms (SNPs) are associated with different levels of serum lipid. Therefore, this study explored the relationship between the gene cluster gene polymorphisms and dyslipidemia in the total sample population and stratified by genders in a northeast Chinese population.

METHODS

A total of 3,850 participants from Jilin Province, China, were enrolled in our study, and their serum lipid levels were measured. Six functional SNPs ( rs5072, rs5128, rs5104, rs651821, rs2075294 and rs10488698) were genotyped using polymerase chain reaction and MALDI-TOF-MS. Logistic regression analysis was performed to explore the relationship of gene cluster gene polymorphisms with dyslipidemia. Linkage disequilibrium and haplotype analyses were performed with the SNPStats program and Haploview software.

RESULTS

All SNPs conformed to Hardy-Weinberg equilibrium. Logistic regression analysis revealed that rs5072, rs5128 and rs651821 were associated with hypertriglyceridemia, rs5104 and rs651821 were associated with low-HDL cholesterolemia in overall group. rs651821 was associated with hypertriglyceridemia and low-HDL cholesterolemia in both the male and female group. However, among females, rs5072 was observed to be associated with hypertriglyceridemia. Haplotype analysis showed that haplotypes TGCCGC and CAGCGC were associated with dyslipidemia in the overall, male and female groups.

CONCLUSION

SNPs in the gene cluster were associated with dyslipidemia. Furthermore, the association of rs5072 in this gene cluster with dyslipidemia differed between genders; thus, additional studies are needed to confirm this conclusion, and the mechanisms underlying these results warrant further exploration.

摘要

背景

血脂异常会增加多种疾病的风险,包括中风、心血管疾病和代谢相关疾病。先前的研究表明,单核苷酸多态性(SNP)与不同水平的血脂有关。因此,本研究在东北人群的总样本中以及按性别分层,探讨了该基因簇基因多态性与血脂异常之间的关系。

方法

本研究共纳入了来自中国吉林省的3850名参与者,并测量了他们的血脂水平。使用聚合酶链反应和基质辅助激光解吸电离飞行时间质谱法(MALDI-TOF-MS)对6个功能性SNP(rs5072、rs5128、rs5104、rs651821、rs2075294和rs10488698)进行基因分型。进行逻辑回归分析以探讨该基因簇基因多态性与血脂异常的关系。使用SNPStats程序和Haploview软件进行连锁不平衡和单倍型分析。

结果

所有SNP均符合哈迪-温伯格平衡。逻辑回归分析显示,在总体组中,rs5072、rs5128和rs651821与高甘油三酯血症有关,rs5104和rs651821与低高密度脂蛋白胆固醇血症有关。rs651821在男性和女性组中均与高甘油三酯血症和低高密度脂蛋白胆固醇血症有关。然而,在女性中,观察到rs5072与高甘油三酯血症有关。单倍型分析表明,单倍型TGCCGC和CAGCGC在总体、男性和女性组中均与血脂异常有关。

结论

该基因簇中的SNP与血脂异常有关。此外,该基因簇中rs5072与血脂异常的关联在性别之间存在差异;因此,需要进一步研究来证实这一结论,这些结果背后的机制值得进一步探索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d261/6322487/e8f8774783fb/peerj-07-6175-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d261/6322487/e8f8774783fb/peerj-07-6175-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d261/6322487/e8f8774783fb/peerj-07-6175-g001.jpg

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