The Relationship Between Bridging Integrator 1 Gene Polymorphism and Susceptibility to Alzheimer’s Disease

Q4 Medicine
A. Saberi, Zohair Niroomand, A. Ghayeghran, F. Ajamian, Ashkan Karimi, Samaneh Ghorbani Shirkouhi, L. Mirzanejad, Somayeh Ahmadi Gooraji, S. Andalib
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Abstract

Background: Alzheimer’s Disease (AD) is the most common type of dementia. The role of genetic factors in AD development remains non-demonstrated. Objectives: In this study, we aimed to investigate the association between one of the BIN1 gene’s single-nucleotide polymorphisms (SNP) rs744373 and Late-Onset Alzheimer’s Disease (LOAD) in an Iranian population in Guilan Province. Materials & Methods: In this case-control study, 110 patients with LOAD and 110 unrelated healthy controls were recruited. Polymerase chain reaction-restriction length polymorphism (PCRRFLP) was performed for genotyping the BIN1 gene’s SNP rs744373. Electrophoresis was thereafter conducted using agarose gel and DNA-safe stain, and the gels were visualized under an Ultraviolet (UV) trans-illuminator. The allelic and genotypic frequencies were determined. Results: The frequency of allele T (Wild-type allele) in the control and the LOAD groups was 70.9% (n=159) and 58.6% (n=129), respectively (P=0.007). The frequency of allele C in the LOAD group (41.4%) (n=91) was significantly higher than that of the control group (29.1%) (n=64) (P=0.007). BIN’s homozygous genotype (CC) frequency was significantly higher in the LOAD group than in the control group (P=0.043). Conclusion: The rs744373 SNP of the BIN1 gene is significantly associated with the risk of developing AD in the studied population.
桥接整合子1基因多态性与阿尔茨海默病易感性的关系
背景:阿尔茨海默病(AD)是最常见的痴呆类型。遗传因素在阿尔茨海默病发展中的作用尚未得到证实。目的:在这项研究中,我们旨在调查伊朗桂兰人群中BIN1基因单核苷酸多态性(SNP) rs744373与晚发性阿尔茨海默病(LOAD)之间的关系。材料与方法:在本病例对照研究中,招募了110例LOAD患者和110例无关的健康对照者。采用聚合酶链反应-限制性长度多态性(PCRRFLP)对BIN1基因SNP rs744373进行基因分型。然后用琼脂糖凝胶和dna安全染色进行电泳,并在紫外线照射下观察凝胶。测定等位基因频率和基因型频率。结果:T等位基因(野生型等位基因)在对照组和LOAD组分别为70.9% (n=159)和58.6% (n=129),差异有统计学意义(P=0.007)。LOAD组C等位基因频率(41.4%)(n=91)显著高于对照组(29.1%)(n=64) (P=0.007)。LOAD组BIN的纯合基因型(CC)频率显著高于对照组(P=0.043)。结论:BIN1基因rs744373 SNP与研究人群发生AD的风险显著相关。
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来源期刊
Caspian Journal of Neurological Sciences
Caspian Journal of Neurological Sciences Neuroscience-Neuroscience (miscellaneous)
CiteScore
0.60
自引率
0.00%
发文量
39
审稿时长
8 weeks
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