@article{bfd884318117410993a2f18162e9805a,
title = "Functional variant rs17525453 within RAB35 gene promoter is possibly associated with increased risk of Parkinson's disease in Taiwanese population.",
abstract = "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.",
keywords = "Parkinson's disease, promoter, RAB35, rs17525453, SNP, TFII-I, Transcriptional activity",
author = "Wang, {Hung Li} and Yeh, {Tu Hsueh} and Huang, {Ying Zu} and Weng, {Yi Hsin} and Chen, {Rou Shayn} and Lu, {Chin Song} and Wei, {Kuo Chen} and Liu, {Yu Chuan} and Chen, {Ying Ling} and Chen, {Chao Lang} and Chen, {Yu Jie} and Lin, {Yan Wei} and Hsu, {Chia Chen} and Chiu, {Chi Han} and Chiu, {Ching Chi}",
note = "Funding Information: This investigation was funded by the Ministry of Science and Technology, Taiwan (MOST107-2320-B-182-036-MY3 to HL Wang; MOST109-2314-B-182A-072-MY3 to CC Chiu), Chang Gung Memorial Hospital , Taiwan ( CMRPD1H0283 to HL Wang; CMRPG3K0951-2 and CMRPG3J0761-3 to CC Chiu) and Healthy Aging Research Center ( EMRPD1H0551 , EMRPD1H0381 , EMRPD1K0481 and EMRPD1K0361 ), Chang Gung University , Taiwan. Funding Information: This investigation was funded by the Ministry of Science and Technology, Taiwan (MOST107-2320-B-182-036-MY3 to HL Wang; MOST109-2314-B-182A-072-MY3 to CC Chiu), Chang Gung Memorial Hospital, Taiwan (CMRPD1H0283 to HL Wang; CMRPG3K0951-2 and CMRPG3J0761-3 to CC Chiu) and Healthy Aging Research Center (EMRPD1H0551, EMRPD1H0381, EMRPD1K0481 and EMRPD1K0361), Chang Gung University, Taiwan. Publisher Copyright: {\textcopyright} 2021",
year = "2021",
month = nov,
doi = "10.1016/j.neurobiolaging.2021.06.011",
language = "English",
volume = "107",
pages = "189--196",
journal = "Neurobiology of Aging",
issn = "0197-4580",
publisher = "Elsevier Inc.",
}