人类SMAD9 (GCC) 重复链接到自然选择和晚发的神经认知障碍
Samira Alizadeh1, Safoura Khamse1, Sara Vafadar1
1Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Daneshjoo Blvd. Koodakyar St, Tehran, 1985713871, Iran.
概括
在SMAD9基因中的特定基因重复 (GCC) 与神经认知障碍有关. 这种重复的变异可能表明阿尔茨海默氏症和血管痴呆症的新遗传风险因素.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 进化生物学 进化生物学
背景情况:
- (GCC) -重复在基因区域和突变热点中很常见,但它们在自然选择中的作用未得到充分研究.
- 人类大脑中高度表达的基因SMAD9在转录开始地点附近含有显著的 (GCC) 重复.
研究的目的:
- 调查SMAD9 (GCC) 重复和晚发神经认知障碍之间的关联.
- 探索自然选择在观察到的重复变异中的潜在作用.
主要方法:
- 在396名伊朗人中测序SMAD9 (GCC) 重复,包括神经认知障碍患者和健康对照.
- 统计分析以比较患者和对照组之间的等位基因和基因型频率.
主要成果:
- 两个主要的等位基因 (GCC) 7和 (GCC) 9占研究人口的96%以上.
- 在神经认知障碍患者和对照组之间观察到 (GCC) 7/ (GCC) 9比率的显著差异,患者的 (GCC) 7和对照组的 (GCC) 9超过.
- 缺少 (GCC) 7或 (GCC) 9的独特基因型仅在神经认知障碍或对照组中分别发现,并且与阿尔茨海默病和血管痴呆症的诊断有关.
结论:
- SMAD9 (GCC) -重复表现出可能受到自然选择影响的变异.
- 这项研究表明,SMAD9 (GCC) 重复的新型基因位点与晚发性阿尔茨海默病和血管痴呆症有关.
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