The single nucleotide polymorphism Rs12817488 is associated with Parkinson’s disease in the Chinese population

Yu, Ri-li; Guo, Jifeng; Wang, Yaqin; Liu, Zhenhua; Sun, Zhanfang; Su, Linyan; Zhang, Yuan; Yan, Xinxiang; Tang, Beisha

doi:10.1016/j.jocn.2014.11.024

Cited by 11 publications

(7 citation statements)

References 24 publications

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“…1 review and 14 irrelevant studies were excluded. Finally, 3 eligible studies (1616 cases and 1649 controls) published from 2013 to 2015 were chosen, and the data were extracted 6 7 8 . The genotype frequencies of rs12817488 in controls of each study met the HWE expectation ( P > 0.05).…”

Section: Resultsmentioning

confidence: 99%

“…Yu RL showed that rs12817488 was associated with PD risk in late-onset PD (LOPD) patients and controls, but not the early-onset PD (EOPD) patients and controls. They found that allele frequencies and genotype between male PD patients and male controls were significantly different, while there was no difference in female 7 . Collectively, these data suggest that CCDC62 may play an important role in PD pathogenesis, but it may act diversely in different gender.…”

Section: Discussionmentioning

confidence: 98%

“…Rs12817488 is localized in the intron of Coiled-coil domain containing 62 (CCDC62), and has been found to be associated with PD risk, but the overall and stratified subgroup results were controversial. Yu RL showed significant association only existed in male, while Liu RR found this only in female population 6 7 . However, Li NN found no relationship between rs12817488 and PD susceptibility 8 .…”

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confidence: 83%

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Possible association of CCDC62 rs12817488 polymorphism and Parkinson’s disease risk in Chinese population: a meta-analysis

Shen

et al. 2016

Sci Rep

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Conflicting results identifying the association between coiled-coil domain containing 62 (CCDC62) polymorphism, rs12817488, and Parkinson’s disease (PD) have been reported. To clarify whether rs12817488 is related to PD risk in Chinese population, we carried out this meta-analysis by searching literature from PubMed and Embase database regarding this polymorphism. Three eligible studies involving 1616 cases and 1649 controls were included in this meta-analysis. Our results showed statistically significant association between rs12817488 and PD risk in all four genetic models. Stratification by gender revealed similar results in both subgroup in these genetic models except for recessive model, in which rs12817488 was not significantly associated with PD in male subgroup. Unstable result was found in recessive model via sensitivity analysis, and publication bias was observed in recessive model as well, indicating that the pooled result from recessive model should be cautiously treated. Our meta-analysis implicates a possible relationship between rs12817488 and PD risk in Chinese population. Further validation of this association in large sample size study with different gender is warranted.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 98%

mentioning

confidence: 83%

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Possible association of CCDC62 rs12817488 polymorphism and Parkinson’s disease risk in Chinese population: a meta-analysis

Shen

et al. 2016

Sci Rep

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“…found that a significant association only existed in males [ 56 ], while Liu et al . only found this association in a female population [ 57 ]. In summary, several aspects may contribute to the different results between the two studies, including age of onset, EOPD/LOPD ratio, sex ratio, and MAF [ 58 ].…”

Section: Discussionmentioning

confidence: 97%

Genetic analysis of indel markers in three loci associated with Parkinson's disease

et al. 2017

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The causal mutations and genetic polymorphisms associated with susceptibility to Parkinson’s disease (PD) have been extensively described. To explore the potential contribution of insertion (I)/deletion (D) polymorphisms (indels) to the risk of PD in a Chinese population, we performed genetic analyses of indel loci in ACE, DJ-1, and GIGYF2 genes. Genomic DNA was extracted from venous blood of 348 PD patients and 325 age- and sex-matched controls without neurodegenerative disease. Genotyping of the indel loci was performed by fragment length analysis after PCR and DNA sequencing. Our results showed a statistically significant association for both allele X (alleles without 5) vs. 5 (odds ratio = 1.378, 95% confidence interval = 1.112–1.708, P = 0.003) and genotype 5/X+X/X vs. 5/5 (odds ratio = 1.681, 95% confidence interval = 1.174–2.407, P = 0.004) in the GIGYF2 locus; however, no significant differences were detected for the ACE and DJ-1 indels. After stratification by gender, no significant differences were observed in any indels. These results indicate that the GIGYF2 indel may be associated with increased risk of PD in northern China.

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“…Similar to that, genes that are involved in dopamine metabolism and transport ( DRD3, SLC6A3, MTHFR ), also showed to pose a risk for PD (Wu Y.-L. et al, 2013 ; Zhai et al, 2014 ; Hassan et al, 2016 ), with particularly, dopamine receptor D3 ( DRD3 ) gene that has been implicated in EOPD patients (Hassan et al, 2016 ). Due to heterogeneity of PD, various other genes have also been associated with PD in one or two populations, including saitohin protein (Lu et al, 2014 ), vitamin D receptor (Gatto et al, 2016 ), semaphorin 5A (Yu et al, 2014 ), granulin (Chen Y. et al, 2016 ), histamine N-methyltransferase ( HNMT ) (Jiménez-Jiménez et al, 2016b ), Ras like without CAAX 2 (Lu Y. et al, 2015 ; Foo et al, 2017 ), syntaxin 1B, parkinson disease 16, FGF20 , glycoprotein nmb (International Parkinson's Disease Genomics and Wellcome Trust Case Control, 2011 ), serine/threonine kinase 39 (Foo et al, 2017 ) and huntingtin interacting protein 1 related ( HIP1R ) (Yu et al, 2015 ) genes. Among these genes, HNMT and HIP1R genes have been found to be implicated with the age-onset of the disease, specifically for HNMT in EOPD (Yang X. et al, 2015 ) whereas HIP1R gene in LOPD (Yu et al, 2015 ).…”

Section: Microrna Regulatory Network In Parkinson Diseasementioning

confidence: 99%

MicroRNAs and Target Genes As Biomarkers for the Diagnosis of Early Onset of Parkinson Disease

Arshad

Sulaiman

Saperi

et al. 2017

Front. Mol. Neurosci.

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Among the neurodegenerative disorders, Parkinson's disease (PD) ranks as the second most common disorder with a higher prevalence in individuals aged over 60 years old. Younger individuals may also be affected with PD which is known as early onset PD (EOPD). Despite similarities between the characteristics of EOPD and late onset PD (LODP), EOPD patients experience much longer disease manifestations and poorer quality of life. Although some individuals are more prone to have EOPD due to certain genetic alterations, the molecular mechanisms that differentiate between EOPD and LOPD remains unclear. Recent findings in PD patients revealed that there were differences in the genetic profiles of PD patients compared to healthy controls, as well as between EOPD and LOPD patients. There were variants identified that correlated with the decline of cognitive and motor symptoms as well as non-motor symptoms in PD. There were also specific microRNAs that correlated with PD progression, and since microRNAs have been shown to be involved in the maintenance of neuronal development, mitochondrial dysfunction and oxidative stress, there is a strong possibility that these microRNAs can be potentially used to differentiate between subsets of PD patients. PD is mainly diagnosed at the late stage, when almost majority of the dopaminergic neurons are lost. Therefore, identification of molecular biomarkers for early detection of PD is important. Given that miRNAs are crucial in controlling the gene expression, these regulatory microRNAs and their target genes could be used as biomarkers for early diagnosis of PD. In this article, we discussed the genes involved and their regulatory miRNAs, regarding their roles in PD progression, based on the findings of significantly altered microRNAs in EOPD studies. We also discussed the potential of these miRNAs as molecular biomarkers for early diagnosis.

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The single nucleotide polymorphism Rs12817488 is associated with Parkinson’s disease in the Chinese population

Cited by 11 publications

References 24 publications

Possible association of CCDC62 rs12817488 polymorphism and Parkinson’s disease risk in Chinese population: a meta-analysis

Possible association of CCDC62 rs12817488 polymorphism and Parkinson’s disease risk in Chinese population: a meta-analysis

Genetic analysis of indel markers in three loci associated with Parkinson's disease

MicroRNAs and Target Genes As Biomarkers for the Diagnosis of Early Onset of Parkinson Disease

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