在临床实践中肥胖遗传原因的流行程度
Jaclyn Tamaroff1, Dylan Williamson1, James C Slaughter2
1Division of Pediatric Endocrinology and Diabetes Vanderbilt University Medical Center Nashville Tennessee USA.
Obesity science & practice
|October 9, 2023
概括
对肥胖的基因检测至关重要,因为超过40%的患者显示出具有临床意义的变异. 目前的临床因素无法预测结果,这凸显了需要新的遗传测试指南的必要性.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 儿科 儿科 儿科
背景情况:
- 单一性肥胖症很少见,约有5%的肥胖患者受到影响.
- 存在针对遗传肥胖的向治疗方法,但对测试的指导是有限的.
- 这项研究评估了单个中心的变种流行率和预测性临床因素.
研究的目的:
- 评估在接受肥胖测试的患者中临床显著基因变异的流行率.
- 为了确定与更高的遗传肥胖可能性相关的临床特征.
- 为基因肥胖测试制定基于证据的指导方针提供信息.
主要方法:
- 对接受肥胖遗传检测的患者进行回顾性审查 (发现罕见肥胖基因小组).
- 从2019年12月到2021年3月从儿科内分泌学和医学体重中心诊所收集的数据.
- 分析了117名患者的遗传结果和临床数据.
主要成果:
- 超过40% (44%) 的患者至少有一种具有不确定的意义或更高的变异.
- 没有发现年龄,性别,种族,BMI或BMIz-score与变种存在之间存在关联.
- 在22%的患者中发现了巴德特·比德尔综合征 (BBS) 变体,其中6.8%患有致病性BBS变体.
结论:
- 临床怀疑对于遗传肥胖测试很重要,但没有特定的临床因素预测了积极的结果.
- 变种的高流行率强调了对适当患者群体进行基因检测的必要性.
- 新型肥胖药物需要明确的基因测试指南,以确保公平获得护理.
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