Yuan XiaoQin, Chen YongPing, Cao Bei, Zhao Bi, Wei QianQian, Guo XiaoYan, Yang Yuan, Yuan LiXing, Shang HuiFang
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Parkinsonism Relat Disord. 2015 Feb;21(2):147-9. doi: 10.1016/j.parkreldis.2014.11.022. Epub 2014 Dec 3.
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been reported to be responsible for autosomal dominant late-onset sporadic Parkinson's disease (PD). The R1628P and G2385R polymorphisms of the LRRK2 gene have been identified as exclusively associated with PD in Asian populations, particularly in Han Chinese population. Considering that there is overlap of the clinical manifestations and pathological characteristics between PD and MSA, we studied the possible associations between R1628P and G2385R polymorphisms of the LRRK2 and MSA in a population of Han Chinese patients.
A total of 318 MSA patients and 350 unrelated age- and sex-matched healthy controls (HCs) were included in the study. All subjects were genotyped for R1628P and G2385R using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis and direct sequencing.
No significant differences were observed in the genotype distribution and minor allele frequency (MAF) of R1628P between MSA patients and HCs (P = 0.418 and P = 0.424), between MSA-C and HCs (P = 0.347 and P = 0.353), between MSA-P and HCs (P = 0.787 and P = 0.790), and between MSA-C and MSA-P (P = 0.606 and P = 0.610). In addition, no significant differences were also observed in the genotype distribution and MAF of G2385R between MSA patients and HCs (P = 0.141 and P = 0.051), between MSA-C and HCs (P = 0.061 and P = 0.065), between MSA-P and HCs (P = 0.184 and P = 0.158), and between MSA-C and MSA-P (P = 0.354 and P = 0.853).
The present study suggests that R1628P and G2385R polymorphisms of the LRRK2 are not risk factors for MSA in the Han Chinese population.
据报道，富含亮氨酸重复激酶2（LRRK2）基因的突变是常染色体显性晚发性散发性帕金森病（PD）的病因。LRRK2基因的R1628P和G2385R多态性已被确定仅与亚洲人群中的PD相关，尤其是在中国汉族人群中。鉴于PD和多系统萎缩（MSA）之间存在临床表现和病理特征的重叠，我们研究了中国汉族患者人群中LRRK2基因的R1628P和G2385R多态性与MSA之间可能的关联。
本研究共纳入318例MSA患者和350名年龄及性别匹配的无亲缘关系健康对照（HC）。使用聚合酶链反应限制性片段长度多态性（PCR-RFLP）分析和直接测序对所有受试者的R1628P和G2385R进行基因分型。
在MSA患者与HC之间（P = 0．418和P = 0．424）、MSA-C与HC之间（P = 0．347和P = 0．353）、MSA-P与HC之间（P = 0．787和P = 0．790）以及MSA-C与MSA-P之间（P = 0．606和P = 0．610），R1628P的基因型分布和次要等位基因频率（MAF）均未观察到显著差异。此外，在MSA患者与HC之间（P = 0．141和P = 0．051）、MSA-C与HC之间（P = 0．061和P = 0．065）、MSA-P与HC之间（P = 0．184和P = 0．158）以及MSA-C与MSA-P之间（P = 0．354和P = 0．853），G2385R的基因型分布和MAF也未观察到显著差异。
本研究表明，LRRK2基因的R1628P和G2385R多态性不是中国汉族人群中MSA的危险因素。
