Evidence map›Paper›PMID 33818904›Full record

ArticleMolecular genetics & genomic medicine2021

A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.

Rauan Kaiyrzhanov, Akbota Aitkulova, Jana Vandrovcova, David Murphy, Nazira Zharkinbekova, Chingiz Shashkin, Vadim Akhmetzhanov, Gulnaz Kaishibayeva, Altynay Karimova, Zhanybek Myrzayev and 4 more

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Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

10 citing papers in PubMed.

  1. Structural Mechanisms of DNAJC13 Dimeric Assembly and InsPbioRxiv : the preprint server for biology · 2026
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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

14 authors.

Rauan KaiyrzhanovDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.ORCID 0000-0003-1640-4010
Akbota AitkulovaDepartment of Molecular Genetics, National Center for Biotechnology, Nur-Sultan, Kazakhstan.
Jana VandrovcovaDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
David MurphyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Nazira ZharkinbekovaDepartment of Neurology, South Kazakhstan Medical Academy, Shymkent, Kazakhstan.
Chingiz ShashkinContemporary Neurology and Neurorehabilitation Clinic "Shashkin Clinic", Almaty, Kazakhstan.
Vadim AkhmetzhanovDepartment of Neurology, South Kazakhstan Medical Academy, Shymkent, Kazakhstan.
Gulnaz KaishibayevaInstitute of Neurology and Neurorehabilitation Named After Smagul Kaishibayev, Almaty, Kazakhstan.
Altynay KarimovaKazakh Medical University of Continuing Study, Almaty, Kazakhstan.
Zhanybek MyrzayevContemporary Neurology and Neurorehabilitation Clinic "Shashkin Clinic", Almaty, Kazakhstan.
Malgorzata MurrayDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
Talgat KhaibullinDepartment of Neurology, Semey Medical University, Semey, Kazakhstan.
John HardyDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.
Henry HouldenDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.

Funding

Medical Research Council G0601943Medical Research Council G0701075Medical Research Council G0901254Medical Research Council G1001253Medical Research Council MR/J004758/1Medical Research Council MR/K01417X/1Medical Research Council MR/L501542/1Medical Research Council MR/N026004/1Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1Parkinson's UK G-0907Parkinson's UK G-1307Wellcome TrustWellcome Trust WT093205MAWellcome Trust WT104033AIA
6 · The paper itself

Abstract

backgroundKnowledge of the genetic background of many human diseases is currently lacking from genetically undiscovered regions, including Central Asia. Kazakhstan is the first Central Asian country where the genetic studies of Parkinson's disease (PD) have been emerging since it had become a member of the International Parkinson Disease Genomics Consortium. Here we report on the results of whole-exome sequencing (WES) in 50 young-onset PD (YOPD) cases from Kazakhstan. METHODOLOGY: WES was performed on 50 unrelated individuals with YOPD from Kazakhstan. Exome data were screened for novel/ultra-rare deleterious variants in known and candidate PD genes. Copy number variants and small indels were also called.

resultsOnly three cases (6%) were found to be positive for known PD genes including two unrelated familial PD cases with LRRK2 p.(Arg1441Cys) and one case with a homozygous pathogenic PRKN p.(Arg84Trp) variant. Four cases had novel and ultra-rare variants of uncertain significance in LRRK2, DNAJC13, and VPS35. Novel deleterious variants were found in candidate Mendelian PD genes including CSMD1, TNR, EIF4G1, and ATP13A3. Eight cases harbored the East Asian-specific LRRK2 p.(Ala419Val) variant.

conclusionsThe low diagnostic yield in our study might imply that a significant proportion of YOPD cases in Central Asia remains unresolved. Therefore, a better understanding of the genetic architecture of PD among populations of Central Asian ancestry and the pathogenicity of numerous rare variants should be further investigated. WES is a valuable technique for large-scale YOPD genetic studies in Central Asia.

Indexed as

Gene FrequencyGenetic HeterogeneityAdenosine TriphosphatasesAdolescentAdultAge of OnsetEukaryotic Initiation Factor-4GFemaleHumansKazakhstanLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMembrane ProteinsMembrane Transport ProteinsMiddle AgedMolecular ChaperonesAdenosine TriphosphatasesATP13A3 protein, humanCSMD1 protein, humanDNAJC13 protein, humanEIF4G1 protein, humanEukaryotic Initiation Factor-4GLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanMembrane ProteinsMembrane Transport ProteinsMolecular ChaperonesTenascintenascin RTumor Suppressor Proteinsage of onsetCentral AsiageneticsKazakhstanLRRK2Parkinson's diseaseParkinson's disease geneticsyoung-onset

Identifiers

PMID33818904
PMCPMC8222829

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