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/基因中的常见变异与特发性震颤风险之间的关联。

Association Between Common Variants in the / Genes and Risk for Essential Tremor.

作者信息

Agúndez José A G, Macías Yolanda, Alonso-Navarro Hortensia, García-Martín Elena, Álvarez Ignacio, Pastor Pau, Benito-León Julián, López-Alburquerque Tomás, Jiménez-Jiménez Félix Javier

机构信息

University Institute of Molecular Pathology Biomarkers, Universidad de Extremadura, 10071 Cáceres, Spain.

Section of Neurology, Hospital Universitario del Sureste, 28500 Arganda del Rey, Spain.

出版信息

Int J Mol Sci. 2024 Dec 13;25(24):13403. doi: 10.3390/ijms252413403.

Abstract

Many clinical, neuroimaging, neuropathological, epidemiological, and genetic data suggest a relationship between essential tremor (ET) and Parkinson's disease (PD). Several hypothesis-based gene association studies attempted to find a genetic association between these diseases. Recent case-control association studies in Chinese and Spanish populations showed a marginal association between the rs1922452 and rs951818 single nucleotide variants (SNVs) and the risk of PD. The proteins encoded by the and genes have an important role in modulating inflammatory responses, and some recent data associated inflammatory markers to ET. This study investigates a possible association between the most common SNVs in the genes and the risk of ET in the Spanish Caucasian population. We genotyped 267 patients diagnosed with familial ET and 270 age- and sex-matched controls using specific TaqMan assays for rs1922452, rs951818, and rs870849 variants. We found a decreased risk for ET in carriers of the rs870849 C/C genotype and the rs870849C allelic variant exclusively in men. The mean age of onset of ET was not related to any of the variants studied. These data suggest no association of the gene variants studied with the overall risk for ET, except for a slight decrease in risk in male ET patients carrying the variant rs870849C. However, such an association lost significance after correcting for multiple comparisons.

摘要

许多临床、神经影像学、神经病理学、流行病学和遗传学数据表明,特发性震颤(ET)与帕金森病(PD)之间存在关联。一些基于假设的基因关联研究试图找出这些疾病之间的基因关联。最近在中国和西班牙人群中进行的病例对照关联研究显示,rs1922452和rs951818单核苷酸变异(SNV)与PD风险之间存在微弱关联。由这些基因编码的蛋白质在调节炎症反应中起重要作用,并且最近一些数据将炎症标志物与ET相关联。本研究调查了这些基因中最常见的SNV与西班牙白种人群中ET风险之间的可能关联。我们使用针对rs1922452、rs951818和rs870849变异的特异性TaqMan分析方法,对267例诊断为家族性ET的患者和270例年龄及性别匹配的对照进行基因分型。我们发现,仅在男性中,rs870849 C/C基因型携带者和rs870849C等位基因变异携带者的ET风险降低。ET的平均发病年龄与所研究的任何变异均无关联。这些数据表明,除了携带rs870849C变异的男性ET患者风险略有降低外,所研究的基因变异与ET的总体风险无关联。然而,在进行多重比较校正后,这种关联失去了显著性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04b3/11676344/384514cafea6/ijms-25-13403-g001.jpg

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