PER3 VNTR polymorphism in Multiple Sclerosis: A new insight to impact of sleep disturbances in MS

Golalipour, Masoud; Maleki, Zahra; Farazmandfar, Touraj; Shahbazi, Majid

doi:10.1016/j.msard.2017.07.005

Cited by 16 publications

(7 citation statements)

References 21 publications

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“…The PER3 rs2640909 (Met1037Thr) and rs2640908 (synonymous), not in linkage disequilibrium, were found to predict in arterial tissues the expression levels of the adjacent VAMP3 , involved in synaptic vesicles biology and potential target for preventing disturbed flow-dependent thrombus formation [ 84 ]. The relationship of PER3 variations/circadian clock/MS is supported by a PER3 VNTR polymorphism, found to impact the sleep disturbances in MS [ 85 ].…”

Section: Discussionmentioning

confidence: 99%

Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis

Scapoli

Ziliotto

Lunghi

et al. 2021

IJMS

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Aiming at exploring vascular components in multiple sclerosis (MS) with brain outflow disturbance, we combined transcriptome analysis in MS internal jugular vein (IJV) wall with WES in MS families with vertical transmission of disease. Main results were the differential expression in IJV wall of 16 MS-GWAS genes and of seven genes (GRIN2A, GRIN2B, IL20RB, IL26, PER3, PITX2, and PPARGC1A) not previously indicated by GWAS but encoding for proteins functionally interacting with MS candidate gene products. Strikingly, 22/23 genes have been previously associated with vascular or neuronal traits/diseases, nine encoded for transcriptional factors/regulators and six (CAMK2G, GRIN2A, GRIN2B, N1RD1, PER3, PPARGC1A) for circadian entrainment/rhythm components. Among the WES low-frequency (MAF ≤ 0.04) SNPs (n = 7) filtered in the 16 genes, the NR1D1 rs17616365 showed significantly different MAF in the Network for Italian Genomes affected cohort than in the 1000 Genome Project Tuscany samples. This pattern was also detected in five nonintronic variants (GRIN2B rs1805482, PER3 rs2640909, PPARGC1A rs2970847, rs8192678, and rs3755863) in genes coding for functional partners. Overall, the study proposes specific markers and low-frequency variants that might help (i) to understand perturbed biological processes in vascular tissues contributing to MS disease, and (ii) to characterize MS susceptibility genes for functional association with disease-pathways.

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Section: Discussionmentioning

confidence: 99%

Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis

Scapoli

Ziliotto

Lunghi

et al. 2021

IJMS

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“…In a study, it was found that the PER3 5/5 variant carriers were related to increased amount of interleukin-6, B-type natriuretic peptide, and lower vitamin A levels (Lipkova et al, 2014b). Golalipour et al (2017) reported that PER3 4/4 genotype and 4-repeat allele were connected with multiple sclerosis. No significant difference was observed in allele periodicities of PER3 VNTR between the obese and the nonobese individuals (Bienertova-Vasku et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

Possible Association ofPER2/PER3Variable Number Tandem Repeat Polymorphism Variants with Susceptibility and Clinical Characteristics in Pancreatic Cancer

Dagmura¹,

Yığıt

Duman

et al. 2021

Genetic Testing and Molecular Biomarkers

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Objective: Pancreatic cancer (PC) is a serious disease with poor outcomes, and its prevalence has been increasing steadily. The circadian rhythm (CR) is involved in multiple physiological events and maintains homeostasis. Alterations in the CR elevate the risk of developing cancer. The present case-control research was carried out to estimate the possible association between PERIOD2/PERIOD3 (PER2/PER3) gene variable number tandem repeat polymorphism (VNTR) variants and PC in the Turkish population. Materials and Methods: A total of 198 subjects (78 patients with PC and 120 healthy controls) were enrolled in this work. Genomic DNA was collected from peripheral blood mononuclear cells, and genotypic analyses was performed using a polymerase chain reaction (PCR) method. Odds ratio (OR) with a 95% confidence interval (95% CI) was calculated using the v 2 test. Results: The frequency of the 4R (4 repeats)/3R (3 repeats), 3R/3R genotypes, and 3R allele of PER2 VNTR in patients with PC was significantly higher than in the control group (p = 0003, p = 0.00004, respectively). PER2 VNTR 4/5 genotype was related to perineural invasion (p = 0.040). The genotype and allele distribution of PER3 VNTR variant did not show any statistical difference between the two groups (p > 0.05). The PER2/PER3 VNTR 4/5-4R/3R combined genotype was increased in the patient group (p = 0.013), while 4/5-4R/4R combined genotype was increased in the control group (p = 0.0001). Conclusions: Our work has indicated that PER2 VNTR 3R allele may play a crucial role in the pathogenesis of PC in Turkish patients, which may become a useful marker for predicting the development of PC. Furthermore, the PER2 VNTR genotype seems to be related to perineural invasion in PC.

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“…Individuals with the Per3 5/5 genotype displayed an extreme diurnal preference-earlier wake-up and sleep-times 26 . Per3 VNTR has been associated with multiple phenotypic parameters, such as diurnal preference, myocardial infarction, sleep disturbances in multiple sclerosis, mood disorders, and also with an increased breast cancer risk 6,25,[27][28][29] .…”

Section: Discussionmentioning

confidence: 99%

PER3 VNTR variant and susceptibility to smoking status/substance use disorder in a Turkish population

Aydin

Uysal

Pehlıvan

et al. 2020

Arch. Clin. Psychiatry (São Paulo)

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PER3 VNTR polymorphism in Multiple Sclerosis: A new insight to impact of sleep disturbances in MS

Cited by 16 publications

References 21 publications

Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis

Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis

Possible Association ofPER2/PER3Variable Number Tandem Repeat Polymorphism Variants with Susceptibility and Clinical Characteristics in Pancreatic Cancer

PER3 VNTR variant and susceptibility to smoking status/substance use disorder in a Turkish population

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