Association of VDR FokI and ApaI genetic polymorphisms with parkinson's disease risk in South Western Iranian population

Mohammadzadeh, Reza; Pazhouhesh, R.

doi:10.5530/ami.2016.1.24

Cited by 3 publications

(5 citation statements)

References 2 publications

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“…Furthermore, allele variations like FokIA in the Chinese, FokICC in Japanese, and FokIC allele in the Hungarian population, had increased risk for PD (Table 2). Conversely, studies in other populations reported no significant difference, which indicated that the effect of VDR polymorphisms varied depending on ethnicity, with effects of polymorphism varying with different restriction sites [26][27][28][29][30][31][32][33]. The role of SNPs of Hydroxylase/CYP genes which regulate vitamin D synthesis (Figure 1), is yet to be studied in PD.…”

Section: Discussionmentioning

confidence: 99%

“…To understand the possible role, polymorphisms of these genes were studied to check their association with PD. VDR gene polymorphism has been shown to affect PD patients in Korean, Hungarian, Taiwanese, Chinese, Iranian, and Japanese populations and Faroe Islanders [26][27][28][29][30][31][32][33].VDR-FokI (rs2228570) polymorphism was found to be significantly correlated with PD patients in Hungary, China, and Japan, but not in the Korean, Taiwanese, and Iranian populations. VDR-ApaI (rs7976091) polymorphism was reported to have a significant association in the Iranian population but not in the populations of Korea, Japan, China, Hungary, and the Faroe Islands.…”

Section: Search Strategy Overviewmentioning

confidence: 99%

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Vitamin D deficiency and genetic polymorphisms of Vitamin D-associated genes in Parkinson's Disease

Basu¹,

Pal²,

Choudhury

et al. 2023

Preprint

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Parkinson’s Disease (PD) and vitamin D share a unique link as Vitamin D deficiency (VDD) prevails in PD. Thus, an in-depth understanding of Vitamin D biology in PD might be crucial for therapeutic strategies emphasizing Vitamin D. Specifically, explicating the effect of VDD and genetic polymorphisms of vitamin D-associated genes in PD, like VDR (Vitamin D Receptor) or GC (Vitamin D Binding Protein), may aid the process along with polymorphisms of Vitamin D metabolizing genes (e.g., CYP2R1, CYP27A1) in PD. Literature review of single nucleotide polymorphisms (SNPs) related to Vitamin D levels [GC (GC1-rs7041, GC2-rs4588), CYP2R1, CYP24A1, CYP27B1] and Vitamin D function [VDR (FokI - rs2228570, ApaI - rs7976091, BsmI-rs1544410, TaqI-rs731236)] was conducted to explore their relationship with PD severity globally. Furthermore, the DisGeNET database was utilized to explore the gene-disease associations in PD, and STRING alongside Cytoscape was utilized to identify critical genes associated with PD. VDR-FokI polymorphism was reported to be significantly associated with PD in Hungarian, Chinese, and Japanese populations, whereas VDR-ApaI polymorphism was found to affect PD in the Iranian population. However, VDR-TaqI and BsmI polymorphisms had no significant association with PD severity. Conversely, GC1 polymorphisms reportedly affected Vitamin D levels without influencing the disease severity. CYP2R1 (excluding rs1993116) was also reportedly linked to clinical manifestations of PD. Genetic polymorphisms might cause VDD despite enough sunlight exposure and vitamin D-rich food intake, enhancing inflammation, and thereby influencing PD pathophysiology. Knowledge of the polymorphisms associated with vitamin D appears promising for developing new therapeutic strategies against PD.

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Section: Discussionmentioning

confidence: 99%

Section: Search Strategy Overviewmentioning

confidence: 99%

Vitamin D deficiency and genetic polymorphisms of Vitamin D-associated genes in Parkinson's Disease

Basu¹,

Pal²,

Choudhury

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…The flow diagram (Figure 1) showed detailed literature search steps. The systematic search yielded 1,369 potential articles retrieved from the initial databases of PubMed (n = 1004), Embase (n = 98), Web of Science (n = 245), Cochrane Library (n = 21), and one additional record was retrieved through other sources (Mohammadzadeh and Pazhouhesh, 2016). After exclusion of 168 duplicate references, 1,201 articles were considered for the meta-analysis.…”

Section: Literature Search and Screeningmentioning

confidence: 99%

“…After carefully reviewing the full texts, we performed a secondary screening and eliminated 257 articles due to other disease (n = 231), insufficient information (n = 3), other genes and VDR gene polymorphisms (n = 23). A total of 30 studies covering 81 studies were retained for this meta-analysis (Luedecking-Zimmer et al, 2003;Kim et al, 2005;Gezen-Ak et al, 2007Lehmann et al, 2011;Han et al, 2012;Khorram Khorshid et al, 2013;Liu et al, 2013;Lv et al, 2013;Török et al, 2013;Petersen et al, 2014;Gatto et al, 2015;Łaczmański et al, 2015;Zhou et al, 2015;Kang et al, 2016;Mohammadzadeh and Pazhouhesh, 2016;Mun et al, 2016;Meamar et al, 2017;Tanaka et al, 2017;Oliveira et al, 2018;Hu et al, 2020;Agliardi et al, 2021;Arévalo et al, 2021;Agúndez et al, 2022;Dimitrakis et al, 2022a,b;Kamyshna et al, 2022;Redenšek et al, 2022;Zhang et al, 2022).…”

Section: Literature Search and Screeningmentioning

confidence: 99%

Associations of vitamin D receptor polymorphisms with risk of Alzheimer’s disease, Parkinson’s disease, and mild cognitive impairment: a systematic review and meta-analysis

Du,

Geng,

Chen

et al. 2024

Front. Aging Neurosci.

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Vitamin D is a lipid soluble steroid hormone, which plays a critical role in the calcium homeostasis, neuronal development, cellular differentiation, and growth by binding to vitamin D receptor (VDR). Associations between VDR gene polymorphism and Alzheimer’s disease (AD), Parkinson’s disease (PD), and mild cognitive impairment (MCI) risk has been investigated extensively, but the results remain ambiguous. The aim of this study was to comprehensively assess the correlations between four VDR polymorphisms (FokI, BsmI, TaqI, and ApaI) and susceptibility to AD, PD, and MCI. Crude odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to determine the relationship of interest. Pooled analyses suggested that the ApaI polymorphism decreased the overall AD risk, and the TaqI increased the overall PD susceptibility. In addition, the BsmI and ApaI polymorphisms were significantly correlated with the overall MCI risk. Stratified analysis by ethnicity further showed that the TaqI and ApaI genotypes reduced the AD predisposition among Caucasians, while the TaqI polymorphism enhanced the PD risk among Asians. Intriguingly, carriers with the BB genotype significantly decreased the MCI risk in Asian descents, and the ApaI variant elevated the predisposition to MCI in Caucasians and Asians. Further studies are need to identify the role of VDR polymorphisms in AD, PD, and MCI susceptibility.

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“…However, the VDR ApaI/AC genotype was significantly associated with 25(OH)D levels (Petersen et al, 2014). • A study on South Western Iranian population found polymorphic site ApaI to be significantly associated with VDR polymorphism in PD patients, but no significant association of FokI and VDR in the studied group (Mohammadzadeh & Pazhouhesh, 2016) • Association between VDR SNPs and PD was also studied in Hungarian cohort including 100 patients and 107 control where FokIC was found to be higher in PD than healthy group whereas no significant difference was found between the two in case of ApaI, BsmI and TaqI SNPs (Török et al, 2013). • A study on Turkish PD patients reported that VDRA-paI allelic variants and in particular the 'A'-VDR haplotypes have been linked to both PD and AD.…”

Section: Vdr Polymorphisms In Parkinson's Diseasementioning

confidence: 99%

Vitamin D deficiency and genetic polymorphisms of vitamin D‐associated genes in Parkinson's disease

Pal

Choudhury

Kumar

et al. 2023

Eur J of Neuroscience

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Parkinson's disease (PD) and vitamin D share a unique link as vitamin D deficiency (VDD) prevails in PD. Thus, an in‐depth understanding of vitamin D biology in PD might be crucial for therapeutic strategies emphasising vitamin D. Specifically, explicating the effect of VDD and genetic polymorphisms of vitamin D‐associated genes in PD, like VDR (vitamin D receptor) or GC (vitamin D binding protein) may aid the process along with polymorphisms of vitamin D metabolising genes (e.g., CYP2R1 and CYP27A1) in PD. Literature review of single nucleotide polymorphisms (SNPs) related to vitamin D levels [GC (GC1‐rs7041 and GC2‐rs4588), CYP2R1, CYP24A1 and CYP27B1] and vitamin D function [VDR (FokI ‐ rs2228570 and rs10735810; ApaI ‐ rs7976091, rs7975232BsmI and rs1544410; and TaqI ‐ rs731236)] was conducted to explore their relationship with PD severity globally. VDR‐FokI polymorphism was reported to be significantly associated with PD in Hungarian, Chinese and Japanese populations, whereas VDR‐ApaI polymorphism was found to affect PD in the Iranian population. However, VDR‐TaqI and BsmI polymorphisms had no significant association with PD severity. Conversely, GC1 polymorphisms reportedly affected vitamin D levels without influencing the disease severity. CYP2R1 (excluding rs1993116) was also reportedly linked to clinical manifestations of PD. Genetic polymorphisms might cause VDD despite enough sunlight exposure and vitamin D‐rich food intake, enhancing inflammation, there by influencing PD pathophysiology. Knowledge of the polymorphisms associated with VDD appears promising for developing precision vitamin D‐dosing therapeutic strategies against PD.

show abstract

Association of VDR FokI and ApaI genetic polymorphisms with parkinson's disease risk in South Western Iranian population

Cited by 3 publications

References 2 publications

Vitamin D deficiency and genetic polymorphisms of Vitamin D-associated genes in Parkinson's Disease

Vitamin D deficiency and genetic polymorphisms of Vitamin D-associated genes in Parkinson's Disease

Associations of vitamin D receptor polymorphisms with risk of Alzheimer’s disease, Parkinson’s disease, and mild cognitive impairment: a systematic review and meta-analysis

Vitamin D deficiency and genetic polymorphisms of vitamin D‐associated genes in Parkinson's disease

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