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墨西哥混血人群中的H1/H2 MAPT单倍型与帕金森病

H1/H2 MAPT haplotype and Parkinson's disease in Mexican mestizo population.

作者信息

Miranda-Morales Ernesto G, Sandoval-Carrillo Ada, Castellanos-Juárez Francisco X, Méndez-Hernández Edna M, La Llave-León Osmel, Quiñones-Canales Gerardo, Ruano-Calderón Luis A, Arias-Carrión Oscar, Salas-Pacheco Jose M

机构信息

Scientific Research Institute, Juárez University of the State of Durango, Durango, Mexico.

General Hospital Santiago Ramón y Cajal-ISSSTE, Durango, Mexico.

出版信息

Neurosci Lett. 2019 Jan 18;690:210-213. doi: 10.1016/j.neulet.2018.10.029. Epub 2018 Oct 16.

Abstract

Parkinson's disease (PD) is characterized by bradykinesia, resting tremor, rigidity and postural instability as well as early symptoms. Previous studies that evaluated the association between H1/H2 MAPT haplotype and PD were mostly conducted in European populations in which the H1 haplotype was a reported risk factor for PD. Despite those findings, some studies have suggested that the association may be ethnically dependent. Since studies conducted in Latin American population have been scarce, we genotyped the H1/H2 MAPT haplotype in Mexican mestizo population as part of a PD case-control study. DNA was extracted from peripheral blood leucocytes in 108 cases and 108 controls and detection of the H1/H2 haplotypes was achieved by determining the MAPT_238 bp deletion/insertion variant at intron 9 through end-point PCR followed by visual 3% agarose gel electrophoresis interpretation. We observed no-association between genotypes and PD risk [OR/CI (Odds ratio/95% Confidence Interval) of 1.60 (0.78-3.29) for H1/H2 genotype and 2.26 (0.20-25.78) for H2/H2]. No-association was maintained when stratifying our groups by central (p = 0.27) and northern regions (p = 0.70). Our data suggest that H1/H2 MAPT haplotype is not a risk factor to PD in our population.

摘要

帕金森病(PD)的特征是运动迟缓、静止性震颤、僵硬和姿势不稳以及早期症状。先前评估H1/H2 MAPT单倍型与PD之间关联的研究大多在欧洲人群中进行,其中H1单倍型是报道的PD风险因素。尽管有这些发现,但一些研究表明这种关联可能存在种族依赖性。由于在拉丁美洲人群中进行的研究较少,作为PD病例对照研究的一部分,我们对墨西哥混血人群的H1/H2 MAPT单倍型进行了基因分型。从108例患者和108例对照的外周血白细胞中提取DNA,并通过终点PCR测定内含子9处的MAPT_238 bp缺失/插入变异,随后进行可视化3%琼脂糖凝胶电泳分析,以检测H1/H2单倍型。我们观察到基因型与PD风险之间无关联[H1/H2基因型的比值比/置信区间(OR/CI)为1.60(0.78 - 3.29),H2/H2基因型为2.26(0.20 - 25.78)]。按中部地区(p = 0.27)和北部地区(p = 0.70)对我们的组进行分层时,这种无关联仍然存在。我们的数据表明,在我们的人群中,H1/H2 MAPT单倍型不是PD的风险因素。

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