Epigenetic Analysis of the IGF2/H19 locus in the NESTEGGG Small for Gestational Age Population

NESTEGGG 小于胎龄人群 IGF2/H19 基因座的表观遗传学分析

• 批准号: G0700538/1
• 负责人: Renuka Dias
• 金额: $ 16.77万
• 依托单位: Queen Mary University of London
• 依托单位国家: 英国
• 项目类别: Fellowship
• 财政年份: 2007
• 资助国家: 英国
• 起止时间: 2007 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G0700538%2F1
• 关键词: Epigenetic; Analysis; IGF2; H19; locus

Amongst low birth weight babies there is a subgroup with certain clinical features that are defined as Silver-Russell syndrome. Recent work elsewhere has shown there to be abnormalities in specific modifications to the DNA in the IGF-2 gene in a proportion of SRS patients. This so-called ‘epigenetic‘ modification results in reduced production of the IGF-2 growth factor which thus provides an explanation for the syndrome. Independently of this work the Endocrine Centre has led the collection of ~1500 families with one or more children born with low birth weight and/or failure of childhood growth (the NESTEGG study). The Fellow will investigate the frequency of epigenetic abnormalities of the IGF-2 gene in SRS and non-SRS patients in NESTEGG, and will further examine whether other causes of reduced production or action of IGF-2 contribute to this syndrome, or to low birth weight in general.

在低出生体重婴儿中，有一个亚组具有某些临床特征，被定义为Silver-Russell综合征。最近在其他地方的研究表明，在一定比例的SRS患者中，IGF-2基因的DNA特异性修饰存在异常。这种所谓的“表观遗传”修饰导致IGF-2生长因子的产生减少，从而为该综合征提供了解释。除了这项工作之外，内分泌中心还牵头收集了约1 500个有一个或多个出生体重低和/或儿童发育不良儿童的家庭（NESTEGG研究）。研究员将调查NESTEGG中SRS和非SRS患者中IGF-2基因表观遗传异常的频率，并将进一步检查IGF-2产生或作用减少的其他原因是否导致这种综合征或一般的低出生体重。