评估与体重和身高调节以及青春期发育有关的MC3R基因
Yiran Zheng1,2, Luisa Sophie Rajcsanyi3,4, Triinu Peters3,4
1Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Virchowstr. 174, 45147, Essen, Germany. yiran.zheng@uk-essen.de.
Scientific reports
|June 27, 2023
概括
黑色皮质素3受体 (MC3R) 变异影响身体体重,生长和青春期. 罕见的MC3R功能丧失变异与严重肥胖和矮身有关,这表明MC3R功能障碍影响了这些特征.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 人体生理学 人体生理学
背景情况:
- 黑色皮质素3受体 (MC3R) 在调节体重,线性生长和青春期时间方面发挥作用.
- 一种先前确定的MC3R变体 (p.Val44Ile) 与减少瘦身量和延迟青春期有关.
研究的目的:
- 调查MC3R变异与儿童和青少年的正常身高 (SNS) 和严重肥胖的关联.
- 识别新的MC3R变体并评估它们的功能影响.
主要方法:
- 185名SNS儿童/青少年的MC3R编码区域的桑格测序,258名严重肥胖的儿童/青少年和192名健康瘦身的儿童/青少年.
- 对MC3R变异的识别和化分析.
- 在SNS队列中对p.Val44Ile变体进行哈迪-韦恩伯格平衡 (HWE) 分析.
主要成果:
- 确定了11种MC3R变异,包括6种非同义变异 (NSV).
- 三种罕见的功能丧失 (LoF) 变种仅在严重肥胖个体中发现.
- 在SNS队列中观察到p.Val44Ile与HWE的偏差,同卵性载体呈现增加BMI的趋势.
结论:
- 在MC3R中罕见的LoF变异可能会导致严重肥胖和体高下降.
- MC3R功能障碍可能与肥胖和延迟青春期有关.
- 需要进一步的研究来阐明MC3R在人类生长和新陈代谢中的作用.
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