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

Lu, Yanjun; Lu, Tan; Shen, Na; Peng, Jing; Wang, Qianqian; Zhu, Yaowu; Wang, Xiong

doi:10.1038/srep23991

Cited by 5 publications

(2 citation statements)

References 20 publications

(24 reference statements)

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“…CCDC62 (coiled-coil domain containing 62) was found to be related to PD susceptibility in the Nalls et al studies conducted in 2011 and 2014 (Nalls et al, 2011 , 2014 ) pointing out two different intron variants. The gene has a role in cell growth, estrogen receptor transactivation, cyclin D1 expression in prostate cancer cells as well as in other varieties of cancer, since its antibodies are often produced and thus detected (Li et al, 2013 ; Lu et al, 2016 ). Until recently, it was mainly reported as related to cancer (Yu et al, 2015 ).…”

Section: Genetic Determinants Of Risk For Sporadic Pd and Their Implimentioning

confidence: 99%

Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?

Redenšek

Trošt

Dolžan

2017

Front. Aging Neurosci.

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Parkinson's disease (PD) is a sporadic progressive neurodegenerative brain disorder with a relatively strong genetic background. We have reviewed the current literature about the genetic factors that could be indicative of pathophysiological pathways of PD and their applications in everyday clinical practice. Information on novel risk genes is coming from several genome-wide association studies (GWASs) and their meta-analyses. GWASs that have been performed so far enabled the identification of 24 loci as PD risk factors. These loci take part in numerous cellular processes that may contribute to PD pathology: protein aggregation, protein, and membrane trafficking, lysosomal autophagy, immune response, synaptic function, endocytosis, inflammation, and metabolic pathways are among the most important ones. The identified single nucleotide polymorphisms are usually located in the non-coding regions and their functionality remains to be determined, although they presumably influence gene expression. It is important to be aware of a very low contribution of a single genetic risk factor to PD development; therefore, novel prognostic indices need to account for the cumulative nature of genetic risk factors. A better understanding of PD pathophysiology and its genetic background will help to elucidate the underlying pathological processes. Such knowledge may help physicians to recognize subjects with the highest risk for the development of PD, and provide an opportunity for the identification of novel potential targets for neuroprotective treatment. Moreover, it may enable stratification of the PD patients according to their genetic fingerprint to properly personalize their treatment as well as supportive measures.

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Section: Genetic Determinants Of Risk For Sporadic Pd and Their Implimentioning

confidence: 99%

Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?

Redenšek

Trošt

Dolžan

2017

Front. Aging Neurosci.

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“…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 ]. Our previous study also observed a genetic female distribution bias in the mitochondrial genome of PD patients in northern China [ 59 ].…”

Section: Discussionmentioning

confidence: 99%

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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Coiled-Coil Domain-Containing (CCDC) Proteins: Functional Roles in General and Male Reproductive Physiology

Priyanka

Yenugu

2021

Reprod. Sci.

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

Cited by 5 publications

References 20 publications

Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?

Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?

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

Coiled-Coil Domain-Containing (CCDC) Proteins: Functional Roles in General and Male Reproductive Physiology

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