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ACE和AT2R1基因的多态性作为不同类型脑病变的遗传背景

Khrystyna Duve¹, Shkrobot Svitlana¹, Olena Tkachenko²

¹I. HORBACHEVSKY TERNOPIL NATIONAL MEDICAL UNIVERSITY OF THE MINISTRY OF HEALTH OF UKRAINE, TERNOPIL, UKRAINE.

Wiadomosci lekarskie (Warsaw, Poland : 1960)

|December 19, 2023

概括

ACE和AT2R1基因的遗传变异与SVD等脑病变有关. ACE的D等位基因和AT2R1的C等位基因增加了SVD风险,而AT2R1 A/C基因型与PIE和AIE有关.

科学领域:

遗传学遗传学是一个
神经学神经学
分子生物学分子生物学

背景情况:

脑病变包括一系列神经系统疾病,具有不同的病因.
人们越来越认识到遗传因素在神经疾病的易感性和进展中的作用.

研究的目的:

调查患有慢性创伤性脑病变 (CTE),小血管疾病 (SVD),酒精诱导脑病变 (AIE) 和后感染性脑病变 (PIE) 的患者中ACE I/D和AT2R1 A1166C基因多态的流行情况.
确定这些基因的特定基因型与各种脑病变的发生或进展之间的关联.

主要方法:

招募了96名被诊断患有CTE,SVD,AIE或PIE的患者队列.
进行了分子遗传分析,以确定ACE I/D和AT2R1 A1166C多态的基因型.
进行了统计分析,以比较基因型频率并评估风险关联.

主要成果:

与对照组相比,在SVD患者中观察到ACE I/D和AT2R1 A1166C基因型分布的显著变化.
ACE基因的D等位基因和D/D基因型与SVD发展和进展的风险显著增加有关.
携带AT2R1 A1166C的C等位基因与较高的SVD风险有关,A/C基因型显示可能与PIE和AIE风险增加有关.

结论:

这些发现表明,应该考虑将ACE I/D基因多态化研究纳入脑病遗传测试小组.
特定的基因多态可能作为不同类型脑病变的易感性和进展的潜在生物标志物.

关键词:

在ACE I/D多态化中.在AT2R1 A1166C多态形态中.脑病变 (encephalopathies) 是一种脑病变 (encephalopathies) 是一种脑病变 (encephalopathies) 是一种脑病变.

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