肥胖的特征是与肥胖相关的遗传突变的不良预测者
Ahmed W Al-Humadi1,2, Khaled Alabduljabbar1,3, Moath S Alsaqaaby1,4
1Diabetes Complications Research Centre, Conway Institute, University College Dublin, D04V1W8 Dublin, Ireland.
Journal of clinical medicine
|October 14, 2023
概括
在严重肥胖症中,丁-黑色素cortin通路中的遗传突变很常见. 然而,像BMI或发病年龄这样的临床因素并不能预测这些基因突变的存在.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 肥胖问题研究研究
背景情况:
- 遗传因素对肥胖的病理生理学有很大影响,特别是在下丘脑中通过黑色皮质蛋白信号通路.
- 由于遗传变异,这种途径的调节失调可能导致早期发病的多和肥胖.
- 鉴定这些基因突变风险的个体是临床上具有挑战性的.
研究的目的:
- 调查临床人口统计特征与肥胖相关遗传突变的存在之间的关联.
- 确定临床因素是否可以预测白 - 黑色素皮质素通路中的遗传突变.
主要方法:
- 使用下一代测序 (NGS) 来分析来自238名患有III类肥胖症的成年患者的样本.
- 患者样本是在2021年10月至2023年2月期间收集的.
- 基因测序结果被分类为"发现变异"或"没有发现变异".
主要成果:
- 45%的患者 (238例中107例) 呈现出一个或多个在莱普 - 梅拉诺科丁通路内的异构性基因突变.
- 在患有和没有发现基因突变的患者之间,没有观察到身体质量指数 (BMI) 的显著差异 (48.4 vs 49.4 kg/m2).
- 肥胖发病年龄 (13.9岁对11.5岁) 和儿童高食症并不能预测遗传突变.
结论:
- 叶丁-黑色素皮质素通路内的基因突变在BMI大于40kg/m2的个体中很普遍.
- 临床指标,如BMI,肥胖发病年龄和超发病年龄不足以预测这些遗传突变的可能性.
- 需要进行进一步的研究,以确定遗传肥胖突变的可靠临床预测因素.
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