ANO7 非洲祖先的基因组多样性和晚期前列腺癌
Jue Jiang1, Pamela X Y Soh1, Shingai B A Mutambirwa2
1Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, Australia.
Prostate cancer and prostatic diseases
|September 25, 2023
概括
亚诺胺7 (ANO7) 基因与非洲男性前列腺癌 (PCa) 风险有关. 这项研究验证了ANO7作为风险所在地,并探讨了它在PCa异质性和健康差异中的作用.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 基因组学就是基因组学.
背景情况:
- 前列腺癌 (PCa) 不成比例地影响非洲男性,死亡率超过全球平均水平.
- 鉴定出阿诺胺7 (ANO7) 基因是潜在的风险因素,特别是与不良结果相关的非洲特异性蛋白质截断等位基因.
研究的目的:
- 研究ANO7基因在非洲血统男性前列腺癌风险和结果中的作用.
- 在南非人群中识别和描述与PCa相关的ANO7变异.
主要方法:
- 外基因型排列和深度全基因组测序被用于分析889名南非男性的生殖系和瘤ANO7变异.
- 使用临床病理学上匹配的欧洲衍生序列数据进行了比较分析.
- 计算蛋白质结构分析评估了预测有害变异 (PDV) 的影响.
主要成果:
- 一种常见的非洲PDV,p.Ile740Leu (rs74804606),与PCa风险显著相关 (FDR=0.03).
- 观察到p.Ile740Leu与以前报告的非洲特异变种p.Ser914*同时发生.
- 新发现包括一种蛋白质截断变体 (p.Asp789Leu),影响Ca2+结合部位的PDV,以及非洲衍生的瘤中的ANO7基因融合.
- PDVs和生殖系结构变异与非洲人早期出现的PCa有关.
结论:
- ANO7被证实是非洲相关的,蛋白质改变前列腺癌风险位.
- 无论是遗传的还是获得的ANO7变异都会导致非洲血统的个人在前列腺癌中的表型异质性和健康差异.
相关概念视频
02:07Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
02:53Adaptive Mechanisms in Cancer Cells
Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
02:59Cancer Prevention
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
02:07Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
02:53Adaptive Mechanisms in Cancer Cells
Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
02:59Cancer Prevention
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...