与酒精消费相关的罕见和常见变体 识别保存的分子网络
Brittany S Leger1,2, John J Meredith2, Trey Ideker3,4
1Program in Biomedical Sciences, University of California San Diego, La Jolla, CA, USA.
bioRxiv : the preprint server for biology
|March 11, 2024
概括
常见和罕见的遗传变异通过影响共享的基因和分子网络来影响酒精消费. 这项研究将酒精代谢基因与精神病和物质使用障碍联系起来,为复杂的行为提供了新的见解.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 神经科学是一个神经科学.
背景情况:
- 全基因组关联研究 (GWAS) 已经确定了许多与饮酒相关的常见遗传变异.
- 罕见变异在酒精消费中的作用不太清楚,没有先前的研究比较相同基因或分子网络中的常见和罕见变异.
研究的目的:
- 识别与饮酒相关的常见和罕见遗传变异.
- 为了确定常见和罕见的变异是否涉及到相同的基因和分子网络.
- 探索影响酒精消费的基因与与精神病特征相关的基因之间的重叠.
主要方法:
- 使用公开可用的酒精消费GWAS总结统计数据 (GSCAN,N=666,978) 对常见变体.
- 为了分析罕见变异,使用了整个外基因组测序数据 (Genebass,N=393,099).
- 进行基因分析,网络协同定位和差异基因表达分析.
主要成果:
- 确定了294个常见变异的基因和35个与饮酒相关的罕见变异的基因.
- 揭示了共同分子网络中常见和罕见变异基因组之间的显著重叠.
- 发现共享网络中的74个基因与共患精神病或物质使用障碍有关.
结论:
- 常见和罕见的变体汇聚在与饮酒相关的共同生物功能上.
- 鉴定的遗传网络突出显示了酒精消费,精神病特征和物质使用障碍背后的共同途径.
- 不同基因表达分析支持这些网络基因在肝脏和大脑组织中饮酒中的作用.
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