FTO基因型与人体质量指数的表型变异性有关
Jian Yang1, Ruth J F Loos, Joseph E Powell
1University of Queensland Diamantina Institute, The University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland 4102, Australia.
Nature
|September 18, 2012
概括
遗传变异影响表型变异. 一项研究发现,FTO基因SNP rs7202116影响人体体重指数 (BMI) 的变化,而不仅仅是平均BMI.
科学领域:
- 遗传学 是一个遗传学.
- 人体生理学 人体生理学
- 进化生物学 进化生物学
背景情况:
- 复杂特征的表型变异是基因控制的,这意味着变异可能取决于基因型.
- 了解这种遗传控制对于进化生物学,农业和医学至关重要.
- 然而,尚未确定与复杂特征的变异 (而不是平均值) 相关的特定遗传变异.
研究的目的:
- 识别与人类复杂特征的表型变异相关的遗传变异.
- 研究FTO基因位点与身体质量指数 (BMI) 的表型变异性的关联.
主要方法:
- 对全基因组关联研究 (GWAS) 的元分析使用大约17万个人类样本进行.
- 分析了身高和BMI的表型变化.
- 在FTO基因位点的单核酸多态 (SNP) rs7202116被专门检查其与BMI变异性的关联.
主要成果:
- 在FTO基因位点的SNPrs7202116与BMI的表型变异性有显著的关联.
- 这种关联独立于rs7202116对平均BMI的已知影响.
- 对于其他位置的BMI或身高,即使在较大的样本大小中,也没有发现与表型变异性有其他显著关联.
结论:
- 可以确定与表型变异性相关的遗传变异.
- FTO基因位点有助于在肥胖中观察到的人际变异性.
- 这些发现表明,对表型变异的遗传影响是特定的,并且在复杂特征的常见变异中并不普遍.
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