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中国南方人群中多态性与阿尔茨海默病风险的遗传关联分析。

Analysis of Genetic Association Between Polymorphism and Alzheimer's Disease Risk in the Southern Chinese Population.

作者信息

Wang Lijun, Jiao Yang, Zhao Aonan, Xu Xiaomeng, Ye Guanyu, Zhang Yichi, Wang Ying, Deng Yulei, Xu Wei, Liu Jun

机构信息

Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

CAS Center for Excellence in Brain Science and Intelligence Technology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

出版信息

Front Aging Neurosci. 2022 May 25;14:819499. doi: 10.3389/fnagi.2022.819499. eCollection 2022.

Abstract

OBJECTIVE

The study aimed to clarify the association of the 21 single nucleotide polymorphisms (SNPs) with Alzheimer's disease (AD) in the population of southern China.

METHODS

A case-control study was conducted with a total sample size of 490 subjects (246 patients with AD and 244 age- and gender-matched healthy controls) enrolled in this study. Twenty-one selected SNPs were detected using SNaPshot assay and polymerase chain reaction (PCR) technique. Then, we assessed how these SNPs correlated with AD susceptibility.

RESULTS

The results showed that rs3764650 of was closely correlated with risen AD morbidity in the allele [ = 0.010, odds ratio (OR) = 1.43, 95% confidence interval (CI) 1.09-1.89], dominant ( = 0.004, OR = 1.71, 95% CI 1.19-2.46), and additive ( = 0.012, OR = 1.42, 95% CI 1.08-1.86) models. However, rs4147929 of was related to higher AD risk in the allele ( = 0.006, OR = 1.45, 95% CI 1.11-1.89), dominant ( = 0.012, OR = 1.59, 95% CI 1.11-2.27), and additive ( = 0.010, OR = 1.40, 95% CI 1.08-1.81) models. In addition, the frequencies of the G-allele at rs3764650 ( = 0.030) and the A-allele at rs4147929 ( = 0.001) in AD were statistically higher in ε4 carriers in comparison to non-carriers.

CONCLUSION

This study demonstrated that the G-allele at rs3764650 and the A-allele at rs4147929 appeared at higher risk for developing AD, particularly in ε4 carriers. Moreover, it was observed that rs3764650 and rs4147929 of were linked to AD. More in-depth research with a relatively large sample is needed to make the results more convincing.

摘要

目的

本研究旨在阐明21个单核苷酸多态性(SNP)与中国南方人群阿尔茨海默病(AD)的关联。

方法

进行了一项病例对照研究,本研究共纳入490名受试者(246例AD患者和244名年龄和性别匹配的健康对照)。使用SNaPshot分析和聚合酶链反应(PCR)技术检测21个选定的SNP。然后,我们评估了这些SNP与AD易感性的相关性。

结果

结果显示,[基因名称未给出]的rs3764650在等位基因[P = 0.010,优势比(OR)= 1.43,95%置信区间(CI)1.09 - 1.89]、显性(P = 0.004,OR = 1.71,95% CI 1.19 - 2.46)和加性(P = 0.012,OR = 1.42,95% CI 1.08 - 1.86)模型中与AD发病率升高密切相关。然而,[基因名称未给出]的rs4147929在等位基因(P = 0.006,OR = 1.45,95% CI 1.11 - 1.89)、显性(P = 0.012,OR = 1.59,95% CI 1.11 - 2.27)和加性(P = 0.010,OR = 1.40,95% CI 1.08 - 1.81)模型中与AD风险较高相关。此外,与非携带者相比,AD患者中rs3764650的G等位基因频率(P = 0.030)和rs4147929的A等位基因频率(P = 0.001)在ε4携带者中统计学上更高。

结论

本研究表明,rs3764650的G等位基因和rs4147929的A等位基因出现AD发病风险较高,尤其是在ε4携带者中。此外,观察到[基因名称未给出]的rs3764650和rs4147929与AD有关。需要进行更大样本量的更深入研究以使结果更具说服力。

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