镜像极端的BMI表型与染色体16p11.2位点的基因剂量相关
Sébastien Jacquemont1, Alexandre Reymond, Flore Zufferey
1Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.
Nature
|September 2, 2011
概括
16号染色体上的遗传重复与体重不足有关,与与删除相关的肥胖症形成鲜明对比. 这一发现表明,肥胖和体重不足的基因原因反映在镜像中,影响能量平衡.
科学领域:
- 遗传学 是一个遗传学.
- 人体生理学 人体生理学
- 发育生物学 发展生物学
背景情况:
- 肥胖和体重不足都与增加的死亡率有关.
- 体重不足是各种疾病的标志,例如无法发育和饮食障碍.
- 对于体重不足的情况,已知很少有遗传变异,与肥胖不同.
研究的目的:
- 为了研究低体重条件的遗传基础.
- 探索16p11.2的相互重复在导致体重不足的表型中的作用.
- 了解16p11.2的副本数变异与能量平衡障碍之间的关系.
主要方法:
- 从临床和人口队列中确定了138个在16p11.2处相互重复的载体.
- 在携带者中分析了产后体重,体重指数 (BMI) 和头部周长.
- 评估了饮食行为,并将表型与相同位置的删除载体进行了比较.
主要成果:
- 携带重复的携带者表现出降低了产后体重和BMI,体重不足风险显著增加 (成人8.3倍).
- 一半的年轻男性携带者表现出未能壮成长;观察到男性严重性增加的趋势.
- 现型包括选择性/限制性饮食和减少的头周长,反映了删除载体现型.
结论:
- 在16p11.2的相互重复与体重不足,发育不良和特定的饮食行为有关.
- 这些发现表明,严重肥胖和体重不足可能通过对能量平衡的对比影响来分享相反的遗传病因.
- 16p11.2的副本数变异提供了对能量平衡和相关疾病的遗传结构的洞察.
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