ArticleMedicine2015
Target gene capture sequencing in Chinese population of sporadic Parkinson disease.
Article in Medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- Possible association of CCDC62 rs12817488 polymorphism and Parkinson's disease risk in Chinese population: a meta-analysis.Scientific reports · 2016Pooled it
- An investigation of obesity susceptibility genes in Northern Han Chinese by targeted resequencing.Medicine · 2017Observational
- The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies.Scientific reports · 2016Article
- STK39, But Not BST1, HLA-DQB1, and SPPL2B Polymorphism, Is Associated With Han-Chinese Parkinson's Disease in Taiwan.Medicine · 2015Observational
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deciphering of genetic variants plays a critical role in research and clinic of genetic disorders, such as the well known neurodegenerative disease Parkinson disease (PD). To combine pool of targeted genes and next-generation sequencing (NGS), investigators could obtain high efficient but low-cost sequencing data of interested genes. Aim to discover genetic variants that might contribute to PD, we selected 48 candidate genes involved in different pathways and conducted a pilot study to screen nonsynonymous SNPs (nsSNPs) in 4 pooled samples from 237 sporadic Chinese PD patients. Using our custom-designed NimbleGen array and Illumina HiSeq2000, a total of 4 novel nsSNPs (c. 352G>T in STK39, c. 823G>T in DGKQ, c. 36T>A in DLA-DRB5, and c. 1981G>T in GRN) were discovered but not validated by Sanger sequencing. Additionally, we also selected 6 annotated nsSNPs without report in previous PD studies and validated by Sanger sequencing. However, genotyping analysis of 6 validated nsSNPs in 50 PD patients and 50 controls showed no significant differences in cases compared with controls. These data represent the first documentation and validation of these mutations in PD using target gene capture sequencing. Additional replication studies in other populations and functional research are merited to better evaluate precapture multiplex protocol and validate the role of the 6 nsSNPs in PD risk.
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Registered trials
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.