期刊论文详细信息
NEUROBIOLOGY OF AGING 卷:107
Common and rare variants in HFE are not associated with Parkinson's disease in Europeans
Article
Saini, Prabhjyot1,2  Bandres-Ciga, Sara3  Alcantud, Jose Luis4  Ruz, Clara4  Postuma, Ronald B.1,5  Gan-Or, Ziv1,2,5 
[1] McGill Univ, Neuro Montreal Neurol Inst Hosp, Montreal, PQ, Canada
[2] McGill Univ, Dept Human Genet, Montreal, PQ, Canada
[3] NIA, Mol Genet Sect, Lab Neurogenet, NIH, Bethesda, MD 20892 USA
[4] Ctr Invest Biomed, Inst Neurociencias Federico Oloriz, Granada, Spain
[5] McGill Univ, Dept Neurol & Neurosurg, 1033 Pine Ave West,Ludmer Pavil,Room 312, Montreal, PQ H3A 1A1, Canada
关键词: Parkinson's disease;    GWAS;    hfe;    Sequencing;    Rare variants;    Iron homeostasis;   
DOI  :  10.1016/j.neurobiolaging.2021.05.019
来源: Elsevier
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【 摘 要 】

A recent study suggested that the p.H63D variant in HFE, a gene involved in iron homeostasis, may modify alpha-synuclein pathology, the pathological hallmark of Parkinson's disease (PD). If indeed this gene and specific variant are involved in PD, we expect to find differential distribution of HFE variants when comparing PD patients and controls. We analyzed genome-wide association study (GWAS) data from 14,671 PD patients and 17,667 controls and full sequencing data from additional 1647 PD patients and 1050 controls, using logistic regression models, and burden and Kernel tests. The HFE p.H63D variant was not associated with PD, nor did all the other common variants in the HFE locus. We did not find association of rare HFE variants with PD as well in all types of burden and Kernel tests. Our results do not support a role for HFE in PD risk. (C) 2021 Elsevier Inc. All rights reserved.

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