Non-SMC condensin I complex, subunit D2 gene polymorphisms are associated with Parkinson’s disease: a Han Chinese study

Zhang, Ping; Liu, Ling; Huang, Jinsha; Shao, Liang; Wang, Hongcai; Xiong, Nian; Wang, Tao

doi:10.1139/gen-2014-0032

Cited by 23 publications

(22 citation statements)

References 27 publications

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“…Progressive retinal degeneration of KIF11-associated retinopathy suggests that KIF11 play important roles not only in the eye development, but also in maintaining the retinal morphology and function 11. Moreover, for NCAPD2, it has been shown to be significantly associated with the risk of Parkinson’s disease (PD) in Chinese Han population and may serve as a potential genetic marker for the sporadic cases 12. The central granule proximal centrosome agglomerator affects the primary cilia formation, which is part of the DNA damage responses 13.…”

Section: Discussionmentioning

confidence: 99%

<p>miR-30a-3p Targets MAD2L1 and Regulates Proliferation of Gastric Cancer Cells</p>

Wang¹,

Wang²,

He³

et al. 2019

OTT

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PurposeThis study was done to investigate the inhibition effects of miR-30a-3p on mitotic arrest deficient 2 like 1 (MAD2L1) expression and the proliferation of gastric cancer cells.Patients and methodsCluster analysis and the TCGA database were used to screen the key genes highly expressed in gastric cancer. Based on the LinkedOmics website, the correlation between the miR-30a-3p and the cell cycle-related target gene MAD2L1 in gastric cancer was analyzed. The mRNA and protein expression levels were detected with the quantitative real-time PCR and Western blot analysis. The cell proliferation and cell cycle were also detected and analyzed.ResultsBioinformatics analysis showed that MAD2L1 was highly expressed in tumor tissues compared with normal tissues. Compared with normal tissues, the miR-30a-3p was significantly decreased in the gastric cancer tissues. Moreover, MAD2L1 was significantly negatively correlated with the miR-30a-3p expression. Furthermore, over-expression of miR-30a-3p decreased the expression of MAD2L1 at the protein level, which inhibited the proliferation of AGS and BGC-823 gastric cancer cells. In addition, the cell cycles of AGS and BGC-823 cells were arrested at the G0/G1 phase.ConclusionMAD2L1 is a pro-oncogene which is up-regulated in gastric cancer. The miR-30a-3p can down-regulate the MAD2L1 expression, inhibiting the proliferation of gastric cancer cells and affect the cell cycle.

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Section: Discussionmentioning

confidence: 99%

<p>miR-30a-3p Targets MAD2L1 and Regulates Proliferation of Gastric Cancer Cells</p>

Wang¹,

Wang²,

He³

et al. 2019

OTT

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“…It is an important component of the chromatin-condensing complex, which is highly conserved across metazoan. This gene was previously found to be associated with Parkinson's disease [ 39 ] and its paralog NCAPD3 is associated with developmental delay [ 67 ].…”

Section: Discussionmentioning

confidence: 99%

“…Twenty-three of 60 CNVs present in the RE patients were validated by available array data ( S1 Table ). Generally, small CNVs cannot be reliably identified with SNP arrays [ 39 ]. Indeed, of the 37 CNVs that were not identified in the beadchip data, 23 have a size of <10 kb, whereas only 2 of the 23 validated CNVs have a size of less than 10 kb according to the array data.…”

Section: Methodsmentioning

confidence: 99%

Rare gene deletions in genetic generalized and Rolandic epilepsies

et al. 2018

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Genetic Generalized Epilepsy (GGE) and benign epilepsy with centro-temporal spikes or Rolandic Epilepsy (RE) are common forms of genetic epilepsies. Rare copy number variants have been recognized as important risk factors in brain disorders. We performed a systematic survey of rare deletions affecting protein-coding genes derived from exome data of patients with common forms of genetic epilepsies. We analysed exomes from 390 European patients (196 GGE and 194 RE) and 572 population controls to identify low-frequency genic deletions. We found that 75 (32 GGE and 43 RE) patients out of 390, i.e. ~19%, carried rare genic deletions. In particular, large deletions (>400 kb) represent a higher burden in both GGE and RE syndromes as compared to controls. The detected low-frequency deletions (1) share genes with brain-expressed exons that are under negative selection, (2) overlap with known autism and epilepsy-associated candidate genes, (3) are enriched for CNV intolerant genes recorded by the Exome Aggregation Consortium (ExAC) and (4) coincide with likely disruptive de novo mutations from the NPdenovo database. Employing several knowledge databases, we discuss the most prominent epilepsy candidate genes and their protein-protein networks for GGE and RE.

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“…We found strong linkage disequilibrium (LD) between rs1060619 and rs6489721 within the GAPDH promoter region (r 2 = 0.82), or rs1060619 and rs2886093 in intron 2 of GAPDH (r 2 = 0.87), thus representing a larger region of association. Interestingly, our group has also reported significant association between PD and NCAPD2 which is closely adjacent to GAPDH locus [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

Genetic Variants in GAPDH Confer Susceptibility to Sporadic Parkinson’s Disease in a Chinese Han Population

Liu¹,

Xiong²,

Zhang³

et al. 2015

PLoS ONE

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BackgroundAccumulating evidence has demonstrated that the glyceraldehyde-3-phosphate dehydrogenase (GAPDH) is a part of Lewy body inclusions and involves the pathogenesis of Parkinson’s disease (PD). However, it remains unknown whether or not genetic variation at the GAPDH locus contributes to the risk for PD.MethodsA total of 302 sporadic PD patients and 377 control subjects were recruited in our study for assessing two single nucleotide polymorphisms (rs3741918 and rs1060619) in the GAPDH gene. Both allelic association and additive models were used to analyze association between GAPDH variants and risk for PD.ResultsBoth polymorphisms were significantly associated with risk for PD after correction by Bonferroni multiple testing. The minor allele of rs3741918 was associated with decreased risk of sporadic PD (allelic contrast, OR = 0.74, 95% CI: 0.59–0.93, corrected P = 0.028; additive model, OR = 0.73, 95% CI: 0.58–0.92, corrected P = 0.018). While for the rs1060619 locus, the minor allele conferred increased risk for PD (allelic contrast, OR = 1.41, 95% CI: 1.14–1.75, corrected P = 0.007; additive model, OR = 1.43, 95% CI: 1.15–1.79, corrected P = 0.002).ConclusionOur study indicates that GAPDH variants confer susceptibility to sporadic PD in a Chinese Han population, which is consistent with the role of GAPDH protein in neuronal apoptosis. To our knowledge, this is the first study of genetic association between GAPDH locus and risk for PD in the Chinese population.

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Non-SMC condensin I complex, subunit D2 gene polymorphisms are associated with Parkinson’s disease: a Han Chinese study

Cited by 23 publications

References 27 publications

<p>miR-30a-3p Targets MAD2L1 and Regulates Proliferation of Gastric Cancer Cells</p>

<p>miR-30a-3p Targets MAD2L1 and Regulates Proliferation of Gastric Cancer Cells</p>

Rare gene deletions in genetic generalized and Rolandic epilepsies

Genetic Variants in GAPDH Confer Susceptibility to Sporadic Parkinson’s Disease in a Chinese Han Population

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