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日本患者中神经营养因子-3多态性与阿尔茨海默病之间的遗传关联

Genetic Association between Neurotrophin-3 Polymorphisms and Alzheimer's Disease in Japanese Patients.

作者信息

Nagata Tomoyuki, Shibata Nobuto, Shinagawa Shunichiro, Nakayama Ritsuko, Kuerban Bolati, Ohnuma Tohru, Arai Heii, Nakayama Kazuhiko, Yamada Hisashi

机构信息

Department of Psychiatry, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Japan ; Division of Molecular Genetics, Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Japan.

出版信息

Dement Geriatr Cogn Dis Extra. 2013 Sep 7;3(1):272-80. doi: 10.1159/000354369. eCollection 2013.

Abstract

BACKGROUND

Some polymorphisms of the neurotrophin family have previously been investigated as candidate genes for Alzheimer's disease (AD). In the present study, we examined whether neurotrophin-3 (NTF-3) polymorphisms are genetic risk factors in patients with AD.

METHODS

From a sample of 507 subjects, we recruited 248 age-matched subjects divided into 2 groups: AD patients (n = 143) and normal controls (NCs) (n = 105). We identified 3 representative NTF-3 single nucleotide polymorphisms (SNPs): rs6332, rs6489630, and rs4930767. Next, we statistically compared the allele frequencies of each SNP between the AD and NC groups in the early-onset (<65 years) cases under a more limited age-matched condition.

RESULTS

We found a significant association between rs6332 and the total group of AD patients (p = 0.013) and significant associations between both rs6332 (p = 0.033) and rs6489630 (p = 0.035) and early-onset AD patients.

CONCLUSION

These results suggest that NTF-3 SNPs may not only be associated with AD itself, but also with early-onset AD in Japanese patients, assuming that the NTF-3 gene may have age-related effects on neurodegenerative diseases.

摘要

背景

神经营养因子家族的一些多态性先前已被作为阿尔茨海默病(AD)的候选基因进行研究。在本研究中,我们检测了神经营养因子-3(NTF-3)多态性是否为AD患者的遗传危险因素。

方法

从507名受试者样本中,我们招募了248名年龄匹配的受试者,分为两组:AD患者(n = 143)和正常对照(NCs)(n = 105)。我们鉴定了3个具有代表性的NTF-3单核苷酸多态性(SNP):rs6332、rs6489630和rs4930767。接下来,在更有限的年龄匹配条件下,我们对早发型(<65岁)病例中AD组和NC组之间每个SNP的等位基因频率进行了统计学比较。

结果

我们发现rs6332与AD患者总组之间存在显著关联(p = 0.013),并且rs6332(p = 0.033)和rs6489630(p = 0.035)与早发型AD患者之间均存在显著关联。

结论

这些结果表明,假设NTF-3基因可能对神经退行性疾病具有年龄相关效应,NTF-3 SNPs不仅可能与AD本身相关,还与日本患者的早发型AD相关。

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