Department of Neurology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan.
Parkinsonism Relat Disord. 2010 Jan;16(1):28-30. doi: 10.1016/j.parkreldis.2009.06.009. Epub 2009 Jul 28.
To analyze the Gly2385Arg (G2385R) mutation in Taiwanese Alzheimer's disease (AD) patients.
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.
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.
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).
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.
分析台湾地区阿尔茨海默病（AD）患者中的 Gly2385Arg（G2385R）突变。
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。
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。
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）。
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。
