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尼日利亚良性前列腺增生症的全外体测序揭示了亡途径的变化增加

Jason A White^1,2,3, Ernest T Kaninjing^2,4, Kayode A Adeniji^2,5

¹Center for Cancer Research, Tuskegee University, Tuskegee, Alabama, USA.

|January 9, 2024

概括

这项研究在尼日利亚良性前列腺增生 (BPH) 样本中确定了关键的遗传变异,揭示了影响亡和前列腺生长的相互作用. 这些发现有助于更好地了解非洲血统男性的BPH.

科学领域:

基因组医学是基因组医学.
泌尿器科泌尿器科泌尿器科泌尿器科
分子生物学分子生物学

背景情况:

良性前列腺增生 (BPH) 导致下泌尿道症状,不成比例地影响非洲血统的男性.
人们对BPH的病理生理学知之甚少,对非欧洲人群的研究有限.
尼日利亚BPH样本的整体外体序列测定确定了胚胎和体质变化在apoptotic途径.

研究的目的:

在尼日利亚 (NGRn) 良性前列腺增生 (BPH) 样本中表征基因变异.
为了比较NGRn BPH,正常前列腺和前列腺癌 (PCa) 组织的遗传特征.
调查BPH在这个人群中的apoptotic途径在BPH发展中的作用.

主要方法:

60个NGRn BPH,正常前列腺和PCa样本的整体外测序.
鉴定和分析生殖线和体质变异.
样本类型之间的变化频率和并发相互作用的比较.

主要成果:

在NGRn BPH中鉴定了202种生殖系变异和BRCA2_rs11571831和TP53_rs1042522的显著并发.
在NGRn BPH中发现LMTK2,LRP1,COL18A1,CABP1和FKBP1C等基因的体质变异频率增加.
观察到与衰老和DNA损伤修复功能障碍相一致的突变模式.

结论:

NGRn BPH表现出显著的生殖系和体质遗传变化,影响了细胞亡.
这些发现为非洲血统男性的BPH病理生理学提供了新的见解.
这项研究是NGRn BPH的第一个基因组测序分析,解决了关键的知识差距.

关键词:

非洲人的祖先.灭症 (apoptosis) 是一种死亡的过程.良性前列腺增生症良性前列腺增生症生殖系变体的生殖系变体身体变体的体质变体整体外因子测序的测序

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