多祖先转录组-宽关联研究确定了与肝细胞瘤相关的候选基因
Tiankai Xie1, Josey C Sorenson1, Logan G Spector2
1Division of Biostatistics and Health Data Science, School of Public Health, University of Minnesota, Minneapolis, Minnesota.
概括
这项研究通过一项大型的,多祖先转录组全协会研究 (TWAS) 确定了与肝细胞母细胞瘤 (HB) 风险相关的八种潜在基因. 这些发现推动了我们对这种罕见的胚胎肝癌的遗传原因的理解.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 肝母细胞瘤 (HB) 是一种罕见的胚胎性肝脏瘤,其全球发病率正在上升.
- 了解导致HB的遗传因素至关重要,因为HB的患病率越来越高.
研究的目的:
- 进行迄今为止最大的肝细胞母细胞瘤 (HB) 转录全基因组关联研究 (TWAS).
- 为了识别与HB相关的新型遗传风险因素,跨越不同的祖先.
主要方法:
- 在欧洲,拉丁裔和非洲裔美国人群中进行了多祖先TWAS (METRO) 的元分析.
- 用于基因探索,使用表达量化位置 (eQTL) 数据和独立队列.
- 进行了祖先特定基因组丰富分析和METRO-Egger灵敏度分析.
主要成果:
- 一项元分析确定了28个与HB风险显著相关的基因,其中15个在至少两个祖先中显示名义意义.
- 他们突出了包括OXER1,FADS1和UGDH在内的8个关键基因.
- 这些已识别的基因在胎儿肝细胞中表达,并在HB瘤组织中表达差异.
结论:
- 使用多祖先全基因组关联研究数据,精确确定了与HB风险相关的8个潜在基因.
- 这项研究代表了最大的HB TWAS,为进一步的HB病因学遗传调查提供了基础.
更多相关视频
相关概念视频
lncRNA - Long Non-coding RNAs
9.0K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
9.0K
Genome-wide Association Studies-GWAS
14.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
14.4K
Cancer-Critical Genes II: Tumor Suppressor Genes
8.2K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.2K


