Effect Modification between Genes and Environment and Parkinson's Disease Risk

被引：28

作者：

Perinan, Maria Teresa ^{[1
]}

Brolin, Kajsa ^{[2
]}

Bandres-Ciga, Sara ^{[3
]}

Blauwendraat, Cornelis ^{[3
]}

Klein, Christine ^{[4
,5
,6
]}

Gan-Or, Ziv ^{[7
,8
,9
]}

Singleton, Andrew ^{[3
]}

Gomez-Garre, Pilar ^{[1
]}

Swanberg, Maria ^{[2
]}

Mir, Pablo ^{[1
]}

Noyce, Alastair ^{[10
,11
]}

机构：

[1] Univ Seville, Inst Biomed Sevilla, Serv Neurol & Neurofisiol Clin,CSIC, Unidad Trastornos Movimiento,Hosp Univ Virgen Roc, Madrid, Spain

[2] Lund Univ, Wallenberg Neurosci Ctr, Dept Expt Med Sci, Translat Neurogenet Unit, Lund, Sweden

[3] NIA, Lab Neurogenet, Mol Genet Sect, NIH, Bethesda, MD 20892 USA

[4] Univ Lubeck, Inst Neurogenet, Lubeck, Germany

[5] Univ Lubeck, Dept Neurol, Lubeck, Germany

[6] Univ Hosp Schleswig Holstein, Lubeck, Germany

[7] McGill Univ, Neuro Montreal Neurol Inst Hosp, Montreal, PQ, Canada

[8] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada

[9] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[10] UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London, England

[11] Queen Mary Univ London, Ctr Prevent Detect & Diag, Wolfson Inst Populat Hlth, Prevent Neurol Unit, London, England

来源：

ANNALS OF NEUROLOGY | 2022年 / 92卷 / 05期

基金：

美国国家卫生研究院;

关键词：

LRRK2; G2019S; BREAST-CANCER; ASHKENAZI JEWS; MUTATION; PENETRANCE; PHENOTYPE; PHENYLKETONURIA; HETEROGENEITY; GENOTYPE; CARRIERS;

D O I：

10.1002/ana.26467

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Parkinson's disease (PD) is a complex neurodegenerative condition in which genetic and environmental factors interact to contribute to its etiology. Remarkable progress has been made in deciphering disease etiology through genetic approaches, but there is limited data about how environmental and genetic factors interact to modify penetrance, risk, and disease severity. Here, we provide insights into environmental modifiers of PD, discussing precedents from other neurological and non-neurological conditions. Based on these examples, we outline genetic and environmental factors contributing to PD and review potential environmental modifiers of penetrance and clinical variability in monogenic and idiopathic PD. We also highlight the potential challenges and propose how future studies might tackle these important questions. ANN NEUROL 2022

引用

页码：715 / 724

页数：10

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