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LRRK2 Gly2385Arg 变异与台湾地区阿尔茨海默病的相关性分析。

Analysis of the LRRK2 Gly2385Arg variant in Alzheimer's disease in Taiwan.

机构信息

Department of Neurology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan.

出版信息

Parkinsonism Relat Disord. 2010 Jan;16(1):28-30. doi: 10.1016/j.parkreldis.2009.06.009. Epub 2009 Jul 28.

Abstract

OBJECTIVE

To analyze the Gly2385Arg (G2385R) mutation in Taiwanese Alzheimer's disease (AD) patients.

BACKGROUND

The leucine-rich repeat kinase 2 (LRRK2) gene is well known to predispose subjects to Parkinson's disease (PD). The Gly2385Arg (G2385R) variant of LRRK2 is believed to be "East Asian"-specific, particularly in the Han Chinese population; however, whether the LRRK2 G2385R is associated with a risk of AD in pure Han-Chinese patients has not often been studied.

METHODS

A total of 209 AD patients (87 men, 122 women) and 180 age- and gender-matched controls were recruited and the demographic data of the AD patients were analyzed. Genotyping of the Gly2385Arg variant was studied using matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry.

RESULTS

Subjects with the Gly2385Arg variant were all heterozygous carriers. The frequency of Gly2385Arg carriers did not differ significantly between the AD patients and controls (4.78% versus 4.44%, odds ratio=1.04, 95% CI=0.62-1.77, P=0.87). In the AD patient group, the age of symptom onset, the length of education, or the MMSE score showed no significant differences between wild-type carriers and heterozygous variant carriers (P=0.51, 0.43, and 0.09).

CONCLUSION

The Gly2385Arg variant of LRRK2 may not be a major risk factor for AD in pure Han Chinese patient. Among the AD patients, Gly2385Arg carriers were not clinically different from wild-type carriers.

摘要

目的

分析台湾地区阿尔茨海默病(AD)患者中的 Gly2385Arg(G2385R)突变。

背景

富亮氨酸重复激酶 2(LRRK2)基因与帕金森病(PD)的易感性密切相关。LRRK2 的 Gly2385Arg(G2385R)变体被认为是“东亚”特异性的,特别是在汉族人群中;然而,LRRK2 G2385R 是否与汉族纯合子患者的 AD 风险相关尚未得到广泛研究。

方法

共招募了 209 名 AD 患者(87 名男性,122 名女性)和 180 名年龄和性别匹配的对照组,并对 AD 患者的人口统计学数据进行了分析。使用基质辅助激光解吸/电离飞行时间(MALDI-TOF)质谱法研究 Gly2385Arg 变体的基因分型。

结果

Gly2385Arg 变体的所有受试者均为杂合子携带者。AD 患者和对照组之间 Gly2385Arg 携带者的频率无显著差异(4.78%比 4.44%,比值比=1.04,95%置信区间=0.62-1.77,P=0.87)。在 AD 患者组中,野生型携带者和杂合变体携带者之间的发病年龄、受教育程度或 MMSE 评分无显著差异(P=0.51、0.43 和 0.09)。

结论

LRRK2 的 Gly2385Arg 变体可能不是汉族纯合子 AD 的主要危险因素。在 AD 患者中,Gly2385Arg 携带者与野生型携带者在临床上无差异。

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