Evidence map›Paper›PMID 31041581›Full record

ArticleJournal of neurology2019

SNCA but not DNM3 and GAK modifies age at onset of LRRK2-related Parkinson's disease in Chinese population.

Zhi-Hua Yang, Yu-Sheng Li, Meng-Meng Shi, Jing Yang, Yu-Tao Liu, Cheng-Yuan Mao, Yu Fan, Xin-Chao Hu, Chang-He Shi, Yu-Ming Xu

Abstract read
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In one paragraph

Article in Journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.4field-weighted citation impact, top 19% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Genetic and Environmental Factors Influence the Pleomorphy ofInternational journal of molecular sciences · 2021
    Review
  4. Review
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 1 institution in 1 country.

Zhi-Hua YangDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she east road, Zhengzhou, 450000, Henan, China.
Yu-Sheng LiDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she east road, Zhengzhou, 450000, Henan, China.
Meng-Meng ShiDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she east road, Zhengzhou, 450000, Henan, China.
Jing YangDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she east road, Zhengzhou, 450000, Henan, China.
Yu-Tao LiuDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she east road, Zhengzhou, 450000, Henan, China.
Cheng-Yuan MaoDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she east road, Zhengzhou, 450000, Henan, China.
Yu FanDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she east road, Zhengzhou, 450000, Henan, China.
Xin-Chao HuDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she east road, Zhengzhou, 450000, Henan, China.
Chang-He ShiDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she east road, Zhengzhou, 450000, Henan, China. xuyuming@zzu.edu.cn.
Yu-Ming XuDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she east road, Zhengzhou, 450000, Henan, China. shichanghe@gmail.com.
First Affiliated Hospital of Zhengzhou University · CN

Funding

National Key R&D Program of China 2017YFA0105000National Natural Science Foundation of China 81530037National Natural Science Foundation of China 81771290National Natural Science Foundation of China 91849115
6 · The paper itself

Abstract

backgroundRecently, rs2421947 in DNM3 (dynamin 3) was reported as a genetic modifier of age at onset (AAO) of LRRK2 G2019S-related Parkinson's disease (PD) in a genome-wide association study in Arab-Berber population. Rs356219 in SNCA (α-synuclein) was also reported to regulate the AAO of LRRK2-related PD in European populations, and GAK (Cyclin G-associated kinase) rs1524282 was reported to be associated with an increased PD risk with an interaction with SNCA rs356219. G2019S variant is rare in Asian populations, whereas two other Asian-specific LRRK2 variants, G2385R and R1628P, are more frequent with a twofold increased risk of PD.

methodsIn this study, we investigated whether rs2421947, rs356219 and rs1524282 modified AAO in LRRK2-related PD patients in Han Chinese population. We screened LRRK2 G2385R and R1628P variants in 732 PD patients and 1992 healthy controls, and genotyped DNM3 rs2421947, SNCA rs356219 and GAK rs1524282 among the LRRK2 carriers.

resultsThe SNCA rs356219-G allele was found to increase the risk of PD in LRRK2 carriers (OR 1.50, 95%CI 1.08-2.01, P = 0.016), and the AAO of AG + GG genotypes was 4 years earlier than AA genotype (P = 0.006). Nonetheless, no similar association was found in DNM3 rs2421947 and GAK rs1524282.

conclusionsOur results show that SNCA but not DNM3 or GAK is associated with AAO of LRRK2-PD patients in Chinese population.

Indexed as

AgedAge of Onsetalpha-SynucleinChinaDynamin IIIFemaleHumansIntracellular Signaling Peptides and ProteinsLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMiddle AgedParkinson DiseasePopulation SurveillanceProtein Serine-Threonine Kinasesalpha-SynucleinDynamin IIIGAK protein, humanIntracellular Signaling Peptides and ProteinsLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanProtein Serine-Threonine KinasesSNCA protein, humanDNM3G2385RGAKLRRK2Parkinson’s diseaseR1628PSNCA

Identifiers

PMID31041581
OpenAlexW2943136175

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.