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希腊南部的等位基因频率:探索地理梯度在希腊人群中的作用。

Allele Frequency in Southern Greece: Exploring the Role of Geographical Gradient in the Greek Population.

作者信息

Papastefanopoulou Vasiliki, Stanitsa Evangelia, Koros Christos, Simoudis Aimilios, Florou-Hatziyiannidou Chryseis, Beratis Ion, Antonelou Roubina, Andronas Nikolaos, Voskou Panagiota, Angelopoulou Efthalia, Papatriantafyllou John D, Stefanis Leonidas, Kroupis Christos, Papageorgiou Sokratis G

机构信息

Department of Clinical Biochemistry and Molecular Diagnostics, Attikon University General Hospital, Medical School, National and Kapodistrian University of Athens, 12462 Chaidari, Greece.

Cognitive Disorders/Dementia Unit, 2nd Department of Neurology, Attikon University General Hospital, Medical School, National and Kapodistrian University of Athens, 12462 Chaidari, Greece.

出版信息

Geriatrics (Basel). 2022 Dec 20;8(1):1. doi: 10.3390/geriatrics8010001.

Abstract

BACKGROUND

the apolipoprotein e4 allele () constitutes an established genetic risk factor for Alzheimer's Disease Dementia (ADD). We aimed to explore the frequency of the isoforms in the Greek population of Southern Greece.

METHODS

peripheral blood from 175 Greek AD patients, 113 with mild cognitive impairment (MCI), and 75 healthy individuals. DNA isolation was performed with a High Pure PCR Template Kit (Roche), followed by amplification with a real-time qPCR kit (TIB MolBiol) in Roche's Light Cycler PCR platform.

RESULTS

allele frequency was 20.57% in the ADD group, 17.69% in the MCI group, and 6.67% in the control group. homozygosity was the most common genotype, while the frequency of homozygosity was higher in the AD group (8.60%). carrier status was associated with higher odds for ADD and MCI (OR: 4.49, 95% CI: [1.90-10.61] and OR: 3.82, 95% CI: [1.59-9.17], respectively).

CONCLUSION

this study examines the isoforms and is the first to report a higher frequency in MCI compared with healthy controls in southern Greece. Importantly, we report the occurrence of the allele, related to ADD, as amongst the lowest globally reported, even within the nation, thus enhancing the theory of ethnicity and latitude contribution.

摘要

背景

载脂蛋白E4等位基因()是阿尔茨海默病性痴呆(ADD)已确定的遗传风险因素。我们旨在探究希腊南部希腊人群中该异构体的频率。

方法

采集了175名希腊AD患者、113名轻度认知障碍(MCI)患者和75名健康个体的外周血。使用高纯PCR模板试剂盒(罗氏公司)进行DNA提取,随后在罗氏Light Cycler PCR平台上使用实时定量PCR试剂盒(TIB MolBiol)进行扩增。

结果

ADD组的等位基因频率为20.57%,MCI组为17.69%,对照组为6.67%。纯合子是最常见的基因型,而AD组中纯合子的频率更高(8.60%)。携带状态与ADD和MCI的较高发病几率相关(OR分别为:4.49,95%CI:[1.90 - 10.61]和OR:3.82,95%CI:[1.59 - 9.17])。

结论

本研究检测了该异构体,并且是首个报告希腊南部MCI患者中该频率高于健康对照组的研究。重要的是,我们报告了与ADD相关的等位基因的发生率,即使在国内,也是全球报告的最低发生率之一,从而强化了种族和纬度影响的理论。

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