Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?

被引：0

作者：

Senkevich, Konstantin ^{[1
,2
,3
]}

Parlar, Sitki Cem ^{[1
,3
]}

Chantereault, Cloe ^{[1
,3
]}

Yu, Eric ^{[1
,3
]}

Ahmad, Jamil ^{[1
,2
]}

Ruskey, Jennifer A. ^{[1
,2
]}

Asayesh, Farnaz ^{[1
,3
]}

Spiegelman, Dan ^{[1
]}

Waters, Cheryl ^{[4
]}

Monchi, Oury ^{[2
,5
,6
]}

Dauvilliers, Yves ^{[7
]}

Dupre, Nicolas ^{[8
,9
]}

Miliukhina, Irina ^{[10
]}

Timofeeva, Alla ^{[11
]}

Emelyanov, Anton ^{[11
]}

Pchelina, Sofya ^{[11
]}

Greenbaum, Lior ^{[12
,13
,14
]}

Hassin-Baer, Sharon ^{[12
,14
,15
]}

Alcalay, Roy N. ^{[4
,12
]}

Gan-Or, Ziv ^{[1
,2
,3
]}

机构：

[1] McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada

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

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

[4] Columbia Univ, Coll Phys & Surg, Columbia, NY USA

[5] Univ Montreal, Dept Radiol Radiooncol & Med Nucl, Montreal, PQ, Canada

[6] Inst Univ Geriatr Montreal, Ctr Rech, Montreal, PQ, Canada

[7] CHU Montpellier, CHU Montpellier, Gui Chauliac Hosp, Dept Neurol,Sleep Unit,Natl Reference Ctr Narcolep, Montpellier, France

[8] Univ Laval, CHU Quebec, Neurosci Axis, Quebec City, PQ, Canada

[9] Univ Laval, Fac Med, Dept Med, Quebec City, PQ, Canada

[10] RAS, Inst Human Brain, St Petersburg, Russia

[11] Pavlov First St Petersburg State Med Univ, St Petersburg, Russia

[12] Tel Aviv Univ, Fac Med, Tel Aviv, Israel

[13] Sheba Med Ctr, Danek Gertner Inst Human Genet, Tel Hashomer, Israel

[14] Sheba Med Ctr, Joseph Sagol Neurosci Ctr, Tel Hashomer, Israel

[15] Sheba Med Ctr, Movement Disorders Inst, Movement Disorders Inst, Tel Hashomer, Israel

来源：

NPJ PARKINSONS DISEASE | 2024年 / 10卷 / 01期

基金：

美国国家卫生研究院;

关键词：

FRAMEWORK; MUTATION;

D O I：

10.1038/s41531-024-00809-9

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Previous studies have established that rare biallelic SYNJ1 mutations cause autosomal recessive parkinsonism and Parkinson's disease (PD). We analyzed 8165 PD cases, 818 early-onset-PD (EOPD, < 50 years) and 70,363 controls. Burden meta-analysis revealed an association between rare nonsynonymous variants and variants with high Combined Annotation-Dependent Depletion score (> 20) in the Sac1 SYNJ1 domain and PD (Pfdr = 0.040). A meta-analysis of EOPD patients demonstrated an association between all rare heterozygous SYNJ1 variants and PD (Pfdr = 0.029).

引用

页数：5

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