关键词: ACE I/D Leukoaraiosis Polymorphism South Chinese Han population White matter hyperintensities

Mesh : Humans Leukoaraiosis / genetics diagnostic imaging Case-Control Studies Female Peptidyl-Dipeptidase A / genetics Male Aged Middle Aged INDEL Mutation Polymorphism, Genetic China Asian People / genetics Risk Factors Genetic Predisposition to Disease Genotype Alleles East Asian People

来  源:   DOI:10.1007/s10528-023-10505-7

Abstract:
Leukoaraiosis (LA) appears as white matter hyperintensities on T2-weighted brain magnetic resonance imaging scans. Age and hypertension are considered the primary risk factors for LA, but its pathogenesis remains uncertain. This study aims to investigate the correlation between the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and LA. A total of 140 patients with LA and 136 neuroimaging alteration-free controls were recruited in a case-control study. ACE I/D polymorphism was determined using the polymerase chain reaction method. The allele and genotype distributions of the ACE I/D polymorphism were significantly different between subjects with and without LA. Significant difference was observed in the genotypic distribution between LA patients and controls for recessive and additive models. A statistically significant association remained apparent after adjusting for potential risk factors (D/D vs. I/D + I/I: adjusted OR 3.251, 95% CI 1.185-8.918; D/D vs. I/I: adjusted OR 3.277, 95% CI 1.187-9.047). Our results indicate that the D/D genotype and D allele are important risk factors for LA. Future studies with larger populations are needed to validate our results.
摘要:
脑白质疏松症(LA)在T2加权脑磁共振成像扫描中表现为白质高强度。年龄和高血压被认为是LA的主要危险因素。但其发病机制仍不确定。本研究旨在探讨血管紧张素转换酶(ACE)插入/缺失(I/D)多态性与LA之间的相关性。在一项病例对照研究中,共招募了140例LA患者和136例无神经影像学改变的对照。使用聚合酶链反应方法确定ACEI/D多态性。ACEI/D多态性的等位基因和基因型分布在有和没有LA的受试者之间显着不同。对于隐性和加性模型,LA患者与对照组之间的基因型分布存在显着差异。在调整潜在风险因素后,统计学上的显著关联仍然很明显(D/D与I/D+I/I:调整后OR3.251,95%CI1.185-8.918;D/D与I/I:调整后OR3.277,95%CI1.187-9.047)。我们的结果表明,D/D基因型和D等位基因是LA的重要危险因素。未来需要更大人群的研究来验证我们的结果。
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