Functional variant rs17525453 within RAB35 gene promoter is possibly associated with increased risk of Parkinson's disease in Taiwanese population.

Hung Li Wang, Tu Hsueh Yeh, Ying Zu Huang, Yi Hsin Weng, Rou Shayn Chen, Chin Song Lu, Kuo Chen Wei, Yu Chuan Liu, Ying Ling Chen, Chao Lang Chen, Yu Jie Chen, Yan Wei Lin, Chia Chen Hsu, Chi Han Chiu, Ching Chi Chiu

研究成果: 雜誌貢獻文章同行評審

摘要

Our previous study suggests that upregulated RAB35 is implicated in etiology of Parkinson's disease (PD). We hypothesized that upregulated RAB35 results from single nucleotide polymorphisms (SNPs) in RAB35 gene promoter. We identified SNPs within RAB35 gene promoter by analyzing DNA samples of discovery cohort and validation cohort. SNP rs17525453 within RAB35 gene promoter (T>C at position of -66) was significantly associated with idiopathic PD patients. Compared to normal controls, sporadic PD patients had higher C allele frequency. CC and CT genotype significantly increased risk of PD compared with TT genotype. SNP rs17525453 within RAB35 gene promoter leads to formation of transcription factor TFII-I binding site. Results of EMSA and supershift assay indicated that TFII-I binds to rs17525453 sequence of RAB35 gene promoter. Luciferase reporter assays showed that rs17525453 variant of RAB35 gene promoter possesses an augmented transcriptional activity. Our results suggest that functional variant rs17525453 within RAB35 gene promoter is likely to enhance transcriptional activity and upregulate RAB35 protein, which could lead to increased risk of PD in Taiwanese population.
原文英語
頁(從 - 到)189-196
頁數8
期刊Neurobiology of Aging
107
DOIs
出版狀態已發佈 - 11月 2021

ASJC Scopus subject areas

  • 一般神經科學
  • 老化
  • 發展生物學
  • 神經病學(臨床)
  • 老年病學和老年學

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