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首页> 外文期刊>Current opinion in lipidology >Familial combined hyperlipidemia: upstream transcription factor 1 and beyond.
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Familial combined hyperlipidemia: upstream transcription factor 1 and beyond.

机译：家族性合并高脂血症：上游转录因子1及更高。

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PURPOSE OF REVIEW: Familial combined hyperlipidemia is a common complex disease that accounts for up to 20% of premature coronary heart disease. The upstream transcription factor 1, located on 1q21, was recently shown to be linked and associated with familial combined hyperlipidemia in Finnish families. Upstream transcription factor 1 is the first gene identified by positional cloning for familial combined hyperlipidemia. Replication studies are critical to investigation of complex diseases because only they can verify the importance of the original findings. We review recent studies that examine the genetic contribution and functional consequence of upstream transcription factor 1 variants to familial combined hyperlipidemia and type 2 diabetes mellitus. Aiming beyond upstream transcription factor 1, we also evaluate novel strategies that have made it possible to globally examine the genome and the transcriptome. RECENT FINDINGS: Three independent studies support the role of upstream transcription factor 1 in familial combined hyperlipidemia. The results for type 2 diabetes mellitus and the metabolic syndrome have been less conclusive highlight novel strategies for gene identification in familial combined hyperlipidemia. SUMMARY: Currently, genetic and functional evidence is supportive of a role for upstream transcription factor 1 in the etiology of familial combined hyperlipidemia and its component traits, although the mechanism of causality still remains largely unknown.
机译：审查的目的：家族性高脂血症是一种常见的复杂疾病，占早发冠心病的20％。最近显示位于1q21的上游转录因子1与芬兰家庭的家族性合并高脂血症有关。上游转录因子1是第一个通过位置克隆鉴定的家族性合并高脂血症的基因。复制研究对于复杂疾病的调查至关重要，因为只有它们才能验证原始发现的重要性。我们审查了最近的研究，检查上游转录因子1变异对家族性合并高脂血症和2型糖尿病的遗传贡献和功能后果。除了上游转录因子1以外，我们还评估了新颖的策略，这些策略使得有可能全面检查基因组和转录组。最新发现：三项独立研究支持上游转录因子1在家族性合并高脂血症中的作用。 2型糖尿病和代谢综合征的结果尚无定论，突出了家族性合并高脂血症中基因鉴定的新策略。概述：目前，遗传和功能证据支持上游转录因子1在家族性合并高脂血症及其组成特征的病因学中的作用，尽管因果关系的机制仍然未知。

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