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塞内加尔人群中APOE基因多态性的频率、分布及其与血脂参数的关联

Frequencies and Distribution of APOE Gene Polymorphisms and Its Association With Lipid Parameters in the Senegalese Population.

作者信息

Touré Maïmouna, Diouf Niokhor N, Thiam Souleymane, Diop Jean P, Coly Mame S, Mbengue Arame, Sar Fatou B, Ba Abdoulaye, Diallo Fatou A, Samb Abdoulaye

机构信息

Laboratory of Human Physiology and Functional Explorations, Faculty of Medicine, Pharmacy and Odonto-Stomatology (FMPOS) University of Cheikh Anta Diop (UCAD), Dakar, SEN.

Biology Laboratory, Grand Yoff General Hospital of Idrissa Pouye, Dakar, SEN.

出版信息

Cureus. 2022 Apr 12;14(4):e24063. doi: 10.7759/cureus.24063. eCollection 2022 Apr.

DOI:10.7759/cureus.24063
PMID:35573533
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9097468/
Abstract

Background Apolipoprotein E is a multifunctional protein that plays an important role in lipid metabolism. It is encoded by the gene. However, gene polymorphism has not been very well studied in the Senegalese population. Therefore, we studied allele frequencies, genotype distributions, and the relationship between gene polymorphisms and lipid parameters in the Senegalese women population. Methodology This study included 110 healthy women aged 35-72 years. The mean age was 49.8 ± 8.1 years. For all subjects, lipid parameters were analyzed from fasting serum, and genotypes were identified by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) based analysis. Results Variations in the frequencies and distribution of the alleles and genotypes were observed (ε3: 47.3%; ε2: 43.2%; ε4: 9.6%; and ε2/ε3: 70%; ε2/ε4: 16.4%; ε3/ε3: 10.9%; ε2/ε4: 2.7%). Compared to the ε3ε3 genotype carriers, carriers of the ε3ε4 genotype had a significantly higher rate of total cholesterol (p=0.03) and no high-density lipoprotein-cholesterol (p=0.02). Univariate analysis showed that the ε4 allele increases the low-density lipoprotein-cholesterol rate (OR=3.06; 95% CI: 1.16-8.22; p=0.02). Conclusion Our study has shown a difference in allele frequencies and genotype distributions with a total absence of ε2ε2 and ε4ε4 genotypes in a sample of Senegalese women. We also found that gene polymorphism might play a role in plasma lipid levels.

摘要

背景

载脂蛋白E是一种多功能蛋白质,在脂质代谢中起重要作用。它由该基因编码。然而,该基因多态性在塞内加尔人群中尚未得到很好的研究。因此,我们研究了塞内加尔女性人群中的等位基因频率、基因型分布以及基因多态性与脂质参数之间的关系。

方法

本研究纳入了110名年龄在35 - 72岁的健康女性。平均年龄为49.8±8.1岁。对所有受试者,从空腹血清中分析脂质参数,并通过基于聚合酶链反应 - 限制性片段长度多态性(PCR - RFLP)的分析鉴定基因型。

结果

观察到等位基因和基因型的频率及分布存在差异(ε3:47.3%;ε2:43.2%;ε4:9.6%;ε2/ε3:70%;ε2/ε4:16.4%;ε3/ε3:10.9%;ε4/ε4:2.7%)。与ε3ε3基因型携带者相比,ε3ε4基因型携带者的总胆固醇水平显著更高(p = 0.03),且高密度脂蛋白胆固醇水平无差异(p = 0.02)。单因素分析显示,ε4等位基因增加了低密度脂蛋白胆固醇水平(OR = 3.06;95% CI:1.16 - 8.22;p = 0.02)。

结论

我们的研究表明,在塞内加尔女性样本中,等位基因频率和基因型分布存在差异,且完全不存在ε2ε2和ε4ε4基因型。我们还发现基因多态性可能在血浆脂质水平中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ac5/9097468/15a3d4b950a2/cureus-0014-00000024063-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ac5/9097468/15a3d4b950a2/cureus-0014-00000024063-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ac5/9097468/15a3d4b950a2/cureus-0014-00000024063-i01.jpg

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