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一项关于瘦素及其基因 2548 G/A Rs7799039 单核苷酸多态性的研究:埃及儿童的单中心经验。

A study of leptin and its gene 2548 G/A Rs7799039 single-nucleotide polymorphisms in Egyptian children: A single-center experience.

机构信息

Department of Biochemistry, National Hepatology & Tropical Medicine Research Institute, Cairo, Egypt.

Department of Pediatrics, The National Research Centre, Egypt.

出版信息

Clin Res Hepatol Gastroenterol. 2021 Sep;45(5):101724. doi: 10.1016/j.clinre.2021.101724. Epub 2021 Jun 2.

Abstract

BACKGROUND/OBJECTIVES: The pathophysiology of obesity is multifactorial, including genetic and environmental factors. Previous studies had highlighted the association of the leptin gene/receptor with obesity. We aimed to study the leptin gene rs7799039 single nucleotide polymorphism (SNP) in children, and its association with the children's characteristics.

METHODS

A cross-sectional analytic study that included 143 children with obesity (cases) and a comparable group of 86 lean children as controls. The anthropometric measures, blood pressure, and biochemical testing were done for all participants. The real-time polymerase chain reaction was used to detect rs7799039 SNP variant alleles and ELISA for leptin level assessment.

RESULTS

The distribution of rs7799039 SNPs genotypes GG/GA/AA was comparable between both groups. Testing children regardless of their body mass index showed that the abnormalities in blood pressure, lipids values, insulin resistance, and hepatic insulin sensitivity were significantly associated with increased leptin levels. Among cases, the abnormal metabolic status was associated with higher leptin levels.

CONCLUSIONS

The genotype' distribution of leptin gene rs7799039 SNP was similar in both children with obesity and those with normal-weight. The high blood pressure, abnormal lipid profile, and metabolic disturbances, were significantly associated with higher leptin levels and not with leptin gene rs7799039 SNP.

摘要

背景/目的:肥胖的病理生理学是多因素的,包括遗传和环境因素。先前的研究强调了瘦素基因/受体与肥胖的相关性。我们旨在研究儿童瘦素基因 rs7799039 单核苷酸多态性(SNP)及其与儿童特征的关系。

方法

这是一项横断面分析研究,纳入了 143 名肥胖儿童(病例组)和 86 名可比的瘦儿童作为对照组。所有参与者都进行了人体测量学指标、血压和生化检测。使用实时聚合酶链反应检测 rs7799039 SNP 变异等位基因,ELISA 用于评估瘦素水平。

结果

两组 rs7799039 SNP 基因型 GG/GA/AA 的分布无差异。无论儿童的体重指数如何,检测结果表明,血压、血脂值、胰岛素抵抗和肝胰岛素敏感性异常与瘦素水平升高显著相关。在病例组中,代谢异常状态与较高的瘦素水平相关。

结论

肥胖儿童和体重正常儿童的瘦素基因 rs7799039 SNP 基因型分布相似。高血压、血脂异常和代谢紊乱与较高的瘦素水平显著相关,而与瘦素基因 rs7799039 SNP 无关。

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