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本文引用的文献

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J Obstet Gynaecol Res. 2023 May;49(5):1383-1392. doi: 10.1111/jog.15576. Epub 2023 Feb 26.
2
The interaction between polyphyllin I and SQLE protein induces hepatotoxicity through SREBP-2/HMGCR/SQLE/LSS pathway.重楼皂苷 I 与 SQLE 蛋白之间的相互作用通过 SREBP-2/HMGCR/SQLE/LSS 途径诱导肝毒性。
J Pharm Anal. 2023 Jan;13(1):39-54. doi: 10.1016/j.jpha.2022.11.005. Epub 2022 Nov 19.
3
Atorvastatin improves cisplatin sensitivity through modulation of cholesteryl ester homeostasis in breast cancer cells.阿托伐他汀通过调节乳腺癌细胞中的胆固醇酯稳态来提高顺铂敏感性。
Discov Oncol. 2022 Dec 8;13(1):135. doi: 10.1007/s12672-022-00598-8.
4
Associations of HDL-C/LDL-C with myocardial infarction, all-cause mortality, haemorrhagic stroke and ischaemic stroke: a longitudinal study based on 384 093 participants from the UK Biobank.高密度脂蛋白胆固醇/低密度脂蛋白胆固醇与心肌梗死、全因死亡率、出血性卒中和缺血性卒中的相关性:基于英国生物库 384093 名参与者的纵向研究。
Stroke Vasc Neurol. 2023 Apr;8(2):119-126. doi: 10.1136/svn-2022-001668. Epub 2022 Sep 23.
5
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J Gene Med. 2022 Sep;24(9):e3445. doi: 10.1002/jgm.3445. Epub 2022 Sep 4.
6
Astrocyte-specific loss of lactoferrin influences neuronal structure and function by interfering with cholesterol synthesis.星形胶质细胞特异性缺失乳铁蛋白通过干扰胆固醇合成影响神经元的结构和功能。
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7
Genetics of Obesity: What We Have Learned Over Decades of Research.肥胖的遗传学:数十年研究的成果。
Obesity (Silver Spring). 2021 May;29(5):802-820. doi: 10.1002/oby.23116.
8
[Value of SQLE Expression in Prognostic Evaluation of Patients with Acute Myeloid Leukemia].[SQLE表达在急性髓系白血病患者预后评估中的价值]
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Feb;29(1):9-16. doi: 10.19746/j.cnki.issn.1009-2137.2021.01.002.
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Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.全基因组关联研究分析体脂肪分布,鉴定肥胖相关基因座和性别特异性遗传效应。
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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.在 16324 个人中进行深度覆盖全基因组序列和血脂检测。
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角鲨烯环氧酶基因多态性与肥胖之间的关联。

Associations between squalene epoxidase gene polymorphisms and obesity.

作者信息

Yu Jia-Qing, Wang Feng-Xia, Liu Shuai, Zhu Bing, Ma Yi-Tong

机构信息

The First Affiliated Hospital of Xinjiang Medical University, Wulumuqi, Xinjiang, China.

出版信息

PeerJ. 2025 Jul 9;13:e19635. doi: 10.7717/peerj.19635. eCollection 2025.

DOI:10.7717/peerj.19635
PMID:40656960
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12255237/
Abstract

BACKGROUND

Among the known control points of cholesterol synthesis, squalene epoxidase (SQLE) is considered a key factor influencing cholesterol metabolism.

METHODS

A total of 1,045 consecutive participants were divided into an obese group and a control group. Blood biochemical markers were measured, and deoxyribonucleic acid (DNA) was extracted from all participants. Statistical analyses were conducted to assess the associations between SQLE gene single nucleotide polymorphisms (SNPs) and obesity.

RESULTS

The C/C genotype of SQLE SNP1 (rs10104486) was significantly more associated with obesity compared to the A/A genotype. A significant difference in genotype distribution frequency for rs10104486 was observed between the obese and control groups. The recessive model (CC . AC + AA) also showed a statistically significant difference. For SQLE SNP2 (rs2288312), differences were found in genotype distribution frequency, allele frequency, and the recessive model (GG . AA + AG) between the two groups.

CONCLUSIONS

This study indicates a correlation between the SQLE gene polymorphisms rs10104486 and rs2288312 and obesity in a young population. Participants carrying the C allele of rs10104486 were more likely to develop obesity than those carrying the A allele, with the CC genotype identified as a predisposing factor.

摘要

背景

在已知的胆固醇合成控制点中,角鲨烯环氧酶(SQLE)被认为是影响胆固醇代谢的关键因素。

方法

总共1045名连续参与者被分为肥胖组和对照组。测量血液生化指标,并从所有参与者中提取脱氧核糖核酸(DNA)。进行统计分析以评估SQLE基因单核苷酸多态性(SNP)与肥胖之间的关联。

结果

与A/A基因型相比,SQLE SNP1(rs10104486)的C/C基因型与肥胖的相关性显著更高。在肥胖组和对照组之间观察到rs10104486基因型分布频率存在显著差异。隐性模型(CC . AC + AA)也显示出统计学上的显著差异。对于SQLE SNP2(rs2288312),在两组之间的基因型分布频率、等位基因频率和隐性模型(GG . AA + AG)方面发现了差异。

结论

本研究表明SQLE基因多态性rs10104486和rs2288312与年轻人群中的肥胖之间存在相关性。携带rs10104486的C等位基因的参与者比携带A等位基因的参与者更易患肥胖症,CC基因型被确定为一个易感因素。