Department of Neurology, Renmin Hospital of Wuhan University, Wuhan, Hubei, China (mainland).
Med Sci Monit. 2017 Sep 25;23:4591-4600. doi: 10.12659/msm.903636.
BACKGROUND ABCA1 R219K single-nucleotide polymorphisms (SNPs) was related to Alzheimer disease (AD) but not Parkinson disease (PD). Here, we analyzed the associations among ABCA1 R219K distribution, serum biomarkers, AD, and PD in a population in northern China. MATERIAL AND METHODS We used the Mini-Mental State Examination (MMSE) and the Hoehn and Yahr scale (H-Y) to evaluate AD and PD progression, separately. ABCA1 R219K was analyzed by matrix-assisted laser desorption ionization time of flight time mass spectrometry (MALDI-TOF-MS). Serum indexes were determined by enzyme-linked immunosorbent assay (ELISA). RESULTS ABCA1 R219K RR+RK genotype frequency in AD and PD patients was lower than that in normal controls (NC), while ABCA1 R219K KK genotype frequency was significantly higher. ABCA1 R219K RR genotype frequency in AD patients and NC was lower than that in PD patients, while ABCA1 R219K RK+KK genotype frequency was significantly higher. ABCA1 R219K RR genotype was positively correlated to MMSE value in AD patients, while ABCA1 R219K KK genotype was negatively correlated to H-Y value in PD patients. Serum factors were significantly different among AD and PD patients and NC. Serum ABCA1, ApoA1, ApoA2, ApoB, HDL, TC, IL-1β, IL-6, and TNF-α were significantly different between AD and PD patients. CONCLUSIONS ABCA1 R219K R allele was the risk factor inducing abnormal serum levels of ApoA2, LDL, and TG in AD patients, and abnormal levels of serum ABCA1, HDL, IL-1b, IL-6, and TNF-α in PD patients, while ABCA1 R219K K allele was the risk factor inducing lower ABCA1 in AD patients. IL-1β, IL-6, and TNF-α were negatively correlated to MMSE in AD patients but positively correlated to H-Y in PD patients, while HDL was positively related to H-Y in PD patients.
ABCA1 R219K 单核苷酸多态性(SNP)与阿尔茨海默病(AD)相关,但与帕金森病(PD)无关。本研究分析了中国北方人群中 ABCA1 R219K 分布、血清生物标志物、AD 和 PD 之间的关系。
采用简易精神状态检查量表(MMSE)和 Hoehn 和 Yahr 量表(H-Y)分别评估 AD 和 PD 的进展。通过基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)分析 ABCA1 R219K。采用酶联免疫吸附试验(ELISA)测定血清指标。
AD 和 PD 患者的 ABCA1 R219K RR+RK 基因型频率低于正常对照组(NC),而 ABCA1 R219K KK 基因型频率显著升高。AD 患者和 NC 中 ABCA1 R219K RR 基因型频率低于 PD 患者,而 ABCA1 R219K RK+KK 基因型频率显著升高。AD 患者中 ABCA1 R219K RR 基因型与 MMSE 值呈正相关,而 PD 患者中 ABCA1 R219K KK 基因型与 H-Y 值呈负相关。AD 和 PD 患者与 NC 之间的血清因子存在显著差异。AD 和 PD 患者的血清 ABCA1、ApoA1、ApoA2、ApoB、HDL、TC、IL-1β、IL-6 和 TNF-α均有显著差异。
ABCA1 R219K R 等位基因是 AD 患者 ApoA2、LDL 和 TG 血清水平异常的危险因素,也是 PD 患者 ABCA1、HDL、IL-1b、IL-6 和 TNF-α血清水平异常的危险因素,而 ABCA1 R219K K 等位基因是 AD 患者 ABCA1 水平降低的危险因素。AD 患者中,IL-1β、IL-6 和 TNF-α与 MMSE 呈负相关,与 H-Y 呈正相关,而 PD 患者中 HDL 与 H-Y 呈正相关。