Single-nucleotide polymorphisms and haplotypes of non-coding area in the CP gene are correlated with Parkinson’s disease

Na Zhao, Jianqiu Xiao, Zhiyong Zheng, Guoqiang Fei, Feng Zhang, Lirong Jin, Chunjiu Zhong

Research output: Contribution to journalArticlepeer-review

Abstract

Our previous studies have demonstrated that ceruloplasmin (CP) dysmetabolism is correlated with Parkinson’s disease (PD). However, the causes of decreased serum CP levels in PD patients remain to be clarified. This study aimed to explore the potential association between genetic variants of the CP gene and PD. Clinical features, serum CP levels, and the CP gene (both promoter and coding regions) were analyzed in 60 PD patients and 50 controls. A luciferase reporter system was used to investigate the function of promoter single-nucleotide polymorphisms (SNPs). High-density comparative genomic hybridization microarrays were also used to detect large-scale copy-number variations in CP and an additional 47 genes involved in PD and/or copper/iron metabolism. The frequencies of eight SNPs (one intronic SNP and seven promoter SNPs of the CP gene) and their haplotypes were significantly different between PD patients, especially those with lowered serum CP levels, and controls. However, the luciferase reporter system revealed no significant effect of the risk haplotype on promoter activity of the CP gene. Neither these SNPs nor their haplotypes were correlated with the Hoehn and Yahr staging of PD. The results of this study suggest that common genetic variants of CP are associated with PD and further investigation is needed to explore their functions in PD.

Original languageEnglish (US)
Pages (from-to)245-256
Number of pages12
JournalNeuroscience Bulletin
Volume31
Issue number2
DOIs
StatePublished - Apr 1 2015

Keywords

  • ceruloplasmin
  • copy-number variation
  • haplotype
  • Parkinson’s disease
  • single-nucleotide polymorphism

ASJC Scopus subject areas

  • Neuroscience(all)
  • Physiology

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