Genetic analysis of <i><scp>NR</scp>4<scp>A</scp>2</i> gene in a large population of <scp>H</scp>an <scp>C</scp>hinese patients with <scp>P</scp>arkinson's disease

Liu, H.; Tao, Qinghua; Deng, Hao; Mao, Ming; Ding, Yufang; Xu, Pingyi; Chen, Sheng; Song, Zhi; Le, Wei

doi:10.1111/j.1468-1331.2012.03824.x

Cited by 15 publications

(5 citation statements)

References 11 publications

(18 reference statements)

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“…NURR1 (also known as NR4A2) encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily [ 144 ]. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction including PD [ 145 – 163 ]. GPR161 0 0 No association between GPR161 and PD was found.…”

Section: Resultsmentioning

confidence: 99%

Efficient and biologically relevant consensus strategy for Parkinson’s disease gene prioritization

et al. 2016

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BackgroundThe systemic information enclosed in microarray data encodes relevant clues to overcome the poorly understood combination of genetic and environmental factors in Parkinson’s disease (PD), which represents the major obstacle to understand its pathogenesis and to develop disease-modifying therapeutics. While several gene prioritization approaches have been proposed, none dominate over the rest. Instead, hybrid approaches seem to outperform individual approaches.MethodsA consensus strategy is proposed for PD related gene prioritization from mRNA microarray data based on the combination of three independent prioritization approaches: Limma, machine learning, and weighted gene co-expression networks.ResultsThe consensus strategy outperformed the individual approaches in terms of statistical significance, overall enrichment and early recognition ability. In addition to a significant biological relevance, the set of 50 genes prioritized exhibited an excellent early recognition ability (6 of the top 10 genes are directly associated with PD). 40 % of the prioritized genes were previously associated with PD including well-known PD related genes such as SLC18A2, TH or DRD2. Eight genes (CCNH, DLK1, PCDH8, SLIT1, DLD, PBX1, INSM1, and BMI1) were found to be significantly associated to biological process affected in PD, representing potentially novel PD biomarkers or therapeutic targets. Additionally, several metrics of standard use in chemoinformatics are proposed to evaluate the early recognition ability of gene prioritization tools.ConclusionsThe proposed consensus strategy represents an efficient and biologically relevant approach for gene prioritization tasks providing a valuable decision-making tool for the study of PD pathogenesis and the development of disease-modifying PD therapeutics.Electronic supplementary materialThe online version of this article (doi:10.1186/s12920-016-0173-x) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Efficient and biologically relevant consensus strategy for Parkinson’s disease gene prioritization

et al. 2016

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“…Therefore, as Milani et al suggested, mutations in NR4A2 could confer more severe clinical manifestations (Milani et al ). NR4A2 has been reported as a possible candidate gene for schizophrenia and Parkinson disorder, because some of its variants have been identified in affected patients, although the extent of the genotype–phenotype association is not particularly strong (Chen et al ; Chen et al ; Liu et al ). Furthermore, a patient exhibiting ID (IQ = 61) but no autistic features has been described, and he had a balanced chromosomal translocation between chr2 and chr17 that resulted in GPD2 disruption (Daoud et al ).…”

Section: Discussionmentioning

confidence: 99%

Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient

Shimojima

Okamoto

Yamamoto

2017

Congenital Anomalies

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Cases of 2q23q24 microdeletion syndrome are rare. Patients with chromosomal deletions in this region often show language impairment and/or developmental delay of variable severity. Previous genotype-phenotype correlation study suggested GALNT13 and KCNJ3 as possible candidate genes for such phenotypes. We identified a new overlapping deletion in a patient with severe developmental delay. The identified deletion extended toward the distal 2q24.1 region, and more severe phenotypes in the present patient were considered to be related to the additionally deleted genes including NR4A2 and GPD2. Previously reported chromosomal translocation and the mutation identified in GPD2 suggested that this gene would be responsible for the developmental delay. Re-evaluation for the critical region for behavior abnormalities commonly observed in the patients with overlapping deletions of this region suggested that KCNJ3 rather than GALNT13 may be responsible for abnormal behaviors, although there was phenotypic variability. Combinatory deletions involving KCNJ3 and GPD2 may lead to more severe developmental delay. Further studies would be necessary to establish clearer genotype-phenotype correlation in patients with 2q23q24 microdeletion syndrome.

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“…Xu et al (2002) and Zheng, Heydari, and Simon (2003) reported associations between homozygosity or heterozygosity for a variant in the intron of this gene and PD. Many follow‐up studies (Le et al, 2003; Liu et al, 2013; Tan et al, 2004) revealed the presence of NR4A2 variants in both familial and sporadic cases of PD among various populations. Our study provided more evidence for the association between rare variants of NR4A2 and sporadic PD in Chinese population.…”

Section: Discussionmentioning

confidence: 99%

Analysis of rare variants of autosomal‐dominant genes in a Chinese population with sporadic Parkinson’s disease

Zheng

Jin

Chen

et al. 2020

Molec Gen & Gen Med

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Parkinson's disease (PD) is the most common movement disorder (Alves, Forsaa, Pedersen, Dreetz Gjerstad, & Larsen, 2008), with a global prevalence of 6.2 million cases in 2015 that is estimated to rise to 12.9 million by 2040 (Dorsey & Bloem, 2018). PD is defined by two major neuropathological hallmarks: loss of dopaminergic neurons in the substantia nigra pars compacta of the midbrain and the presence of Lewy bodies (LB) (Postuma et al., 2015). However, the etiology of

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Genetic analysis of NR4A2 gene in a large population of Han Chinese patients with Parkinson's disease

Abstract: Collectively, our results suggest that NR4A2 may be a susceptibility gene for PD in the Chinese population.

Cited by 15 publications

References 11 publications

Efficient and biologically relevant consensus strategy for Parkinson’s disease gene prioritization

Efficient and biologically relevant consensus strategy for Parkinson’s disease gene prioritization

Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient

Analysis of rare variants of autosomal‐dominant genes in a Chinese population with sporadic Parkinson’s disease

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