Association between NLPR1, NLPR3, and P2X7R Gene Polymorphisms with Partial Seizures

Objectives. Clinical and experimental evidence has clarified that the inflammatory processes within the brain play a pivotal role in the pathophysiology of seizures and epilepsy. Inflammasomes and P2X7 purinergic receptor (P2X7R) are important mediators during the inflammatory process. Therefore, we investigated the possible association between partial seizures and inflammasomes NLPR1, NLRP3, and P2X7R gene polymorphisms in the present study. Method. A total of 163 patients and 201 health controls were enrolled in this study and polymorphisms of NLPR1, NLRP3, and P2X7R genes were detected using polymerase chain reaction- (PCR-) ligase detection reaction method. Result. The frequency of rs878329 (G>C) genotype with C (CG + CC) was significantly lower among patients with partial seizures relative to controls (OR = 2.033, 95% CI = 1.290–3.204, p=0.002 for GC + CC versus GG). Intriguingly, we found that the significant difference of rs878329 (G>C) genotype and allele frequency only existed among males (OR = 2.542, 95% CI = 1.344–4.810, p=0.004 for GC + CC versus GG), while there was no statistically significant difference among females. However, no significant results were presented for the genotype distributions of rs8079034, rs4612666, rs10754558, rs2027432, rs3751143, and rs208294 polymorphisms between patients and controls. Conclusion. Our study demonstrated the potentially significant role of NLRP1 rs878329 (G>C) in developing susceptibility to the partial seizures in a Chinese Han population.

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Role of plasminogen activator inhibitor-1 gene polymorphisms in osteoporosis: A study in Chinese post-menopausal women

European Journal of Inflammation ◽

10.1177/2058739218767292 ◽

2018 ◽

Vol 16 ◽

pp. 205873921876729

Author(s):

An Wan ◽

Daodong Liu

Keyword(s):

Gene Polymorphisms ◽

Chinese Women ◽

Plasminogen Activator Inhibitor ◽

Plasminogen Activator Inhibitor 1 ◽

Chain Reaction ◽

Polymerase Chain ◽

Post Menopausal ◽

Activator Inhibitor ◽

Pai 1

Osteoporosis is a chronic multifactorial disease characterized by deterioration of bone mass and is vulnerable to bone fracture. Plasminogen activator inhibitor-1 (PAI-1) is an important molecule for maintenance of optimum bone mass. Several single-nucleotide polymorphisms (SNPs) in PAI-1 have been reported to alter PAI-1 expression and/or the translational level. In this report, we explored the possible role of common PAI-1 gene polymorphisms on predisposition to osteoporosis in a Chinese cohort. A total of 364 post-menopausal Chinese women diagnosed of having osteoporosis and 350 healthy females hailing from similar areas were enrolled in this study. Five common SNPs (−844G > A, −6754G/5G, +43G > A, +9785G > A and +11053T > G) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). Relative expression of PAI-1 mRNA and plasma PAI-1 levels were quantified by reverse transcription polymerase chain reaction (RT-PCR) and enzyme-linked immunosorbent assay (ELISA), respectively. Prevalence of homozygous mutant (5G/5G) and minor allele (5G) of PAI-1 (−675 4G/5G) polymorphism was significantly more frequent in patients than in healthy controls (5G/5G: P < 0.0001, odds ratio (OR) = 3.18; 5G: P < 0.0001, OR = 1.65). Both plasma PAI-1 and relative mRNA expression levels were significantly lower in patients compared to healthy controls. Interestingly, the quantity of plasma PAI-1 and mRNA expression was correlated with PAI-1 (−675 4G/5G) polymorphism: subjects with 4G/4G genotype had elevated PAI-1 in comparison to homozygous mutant, and displayed lower quantity of PAI-1 protein and mRNA values. PAI-1 (−675 4G/5G) mutant is associated with susceptibility to development of osteoporosis in post-menopausal Chinese women. Furthermore, this variant in the promoter region alters plasma protein levels and relative expression of PAI-1.

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Study of the HLA-DPβ1 Locus by the Polymerase Chain Reaction Technique in Patients with Hodgkin's Disease

Tumori Journal ◽

10.1177/030089169307900211 ◽

1993 ◽

Vol 79 (2) ◽

pp. 133-136 ◽

Cited By ~ 2

Author(s):

Guseppe Pellegris ◽

Claudia Lombardo ◽

Annelisa Cantoni ◽

Liliana Devizzi ◽

Monica Balzarotti

Keyword(s):

Polymerase Chain Reaction ◽

Hodgkin's Disease ◽

Hodgkin’S Disease ◽

Polymerase Chain Reaction Method ◽

Healthy Controls ◽

Chain Reaction ◽

Reaction Method ◽

Significant Difference ◽

Polymerase Chain

Background A number of reports have studied associations between Hodgkin's disease and HLA. Some of them established correlation between several antigens and Hodgkin's disease, and others found no correlations. Methods The HLA DP locus was determined by the polymerase chain reaction method in 31 Hodgkin's disease patients and 58 healthy controls. Results No significant difference between patients and controls was noted. Conclusions Further investigations are needed to confirm the hypothesis of a possible role of the HLA complex as one of the factors involved in Hodgkin's disease.

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MicroRNAs of Equine Amniotic Mesenchymal Cell-derived Microvesicles and Their Involvement in Anti-inflammatory Processes

Cell Transplantation ◽

10.1177/0963689717724796 ◽

2018 ◽

Vol 27 (1) ◽

pp. 45-54 ◽

Cited By ~ 11

Author(s):

Anna Lange-Consiglio ◽

Barbara Lazzari ◽

Claudia Perrini ◽

Flavia Pizzi ◽

Alessandra Stella ◽

...

Keyword(s):

Small Rnas ◽

Cell Communication ◽

Mesenchymal Cell ◽

Chain Reaction ◽

Endometrial Cells ◽

Inflammatory Processes ◽

Immune System Regulation ◽

Polymerase Chain ◽

Amniotic Membranes

Cell-derived microvesicles (MVs) are a recently discovered mechanism of cell-to-cell communication. Our previous data show that MVs secreted by equine amniotic mesenchymal-derived cells (AMCs) are involved in downregulation of proinflammatory genes in lipopolysaccharide-stressed equine tendon and endometrial cells. The aim of the present study was to evaluate whether AMC-MVs contain selected microRNAs (miRNAs) involved in inflammation. Two pools of cells, derived from 3 amniotic membranes each, and their respective MVs were collected. Small RNAs were extracted and deep sequenced, followed by miRNA in silico detection. The analysis identified 1,285 miRNAs, which were quantified both in AMCs and MVs. Among these miRNAs, 401 were classified as Equus caballus miRNAs, 257 were predicted by homology with other species (cow, sheep, and goat), and 627 were novel candidate miRNAs. Moreover, 146 miRNAs differentially expressed (DE) in AMCs and MVs were identified, 36 of which were known and the remaining were novel. Among the known DE miRNAs, 17 showed higher expression in MVs. Three of these were validated by real time polymerase chain reaction: eca-miR-26, eca-miR-146a, and eca-miR-223. Gene ontology analysis of validated targets showed that the DE miRNAs in cells and MVs could be involved both in immune system regulation by modulating interleukin signaling and in the inflammatory process. In conclusion, this study suggests a significant role of AMCs in modulating immune response through cell–cell communication via MV-shuttling miRNAs.

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Hopelessness and serotonin related genes in depresseed suicide attempters

European Psychiatry ◽

10.1016/s0924-9338(11)73324-7 ◽

2011 ◽

Vol 26 (S2) ◽

pp. 1620-1620

Author(s):

D.B. Jovanovic ◽

A. Jovanovic ◽

M. Ivkovic ◽

M. Jasovic Gasic

Keyword(s):

Suicidal Behavior ◽

Gene Polymorphisms ◽

Polymerase Chain Reaction Method ◽

Healthy Controls ◽

Chain Reaction ◽

Suicide Attempters ◽

Suicidal Intent ◽

Polymerase Chain ◽

Commit Suicide

IntroductionOne million people worldwide commit suicide each year; the number of attempters is 20 times larger. The diathesis to suicidal behavior is inherited independently from mental disorders and is most often associated with depression. The importance of serotonergic genes in the genesis of suicidal behavior and depression is assumed. The link between depression and suicidal behavior is hopelessness.ObjectivesAnalyzing the link of certain serotonergic alleles and genotypes with suicidal behavior and depression, as well as with hopelessness.AimsTo analyze the association of chosen serotonergic alleles and genotypes (5HTT LPR, LPR SNP, VNTR2; THP1 A218C, 5HTR1A C1019G; 5HTR2A T102C, C1354 T) with suicidal behavior, depression and hopelessness.MethodsThe study included 30 depressed suicide attempters, 30 depressed patients without attempt and 30 healthy controls. Polymerase Chain Reaction method was used to analyze serotonergic gene polymorphisms. Participants were tested with Beck Depression Inventory, Suicidal Intent Scale, Becks Hopelessness Scale.ResultsTwo analyzed polymorphisms are associated with depression, but not with suicidal behavior (5HTTintron 2 alele 10 and A218 of the TPH1 gene). Hopelessness is more prominent in depressed suicide attempters.ConclusionsThe results support the role of two serotonergic genes in the genesis of depression. Hopelessness is an important predictor of suicidal behavior. Further investigation of the role of serotonergic genes in various subtypes of suicidal behavior is suggested.

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A novel variation of GDF3 in Chinese Han children with a broad phenotypic spectrum of non-syndromic CHDs

Cardiology in the Young ◽

10.1017/s1047951114002170 ◽

2014 ◽

Vol 25 (7) ◽

pp. 1263-1267 ◽

Cited By ~ 1

Author(s):

Jianmin Xiao ◽

Guanyang Kang ◽

Jing Wang ◽

Tengyan Li ◽

Jiuhao Chen ◽

...

Keyword(s):

Polymerase Chain Reaction ◽

Septal Defect ◽

System Development ◽

Reaction Products ◽

Chain Reaction ◽

Chinese Han ◽

Polymerase Chain ◽

Embryonic Morphogenesis ◽

Insight Into

AbstractBackgroundThe GDF3 gene plays a fundamental role in embryonic morphogenesis. Recent studies have indicated that GDF3 plays a previously unrecognised role in cardiovascular system development. Non-syndromic CHDs might be a clinically isolated manifestation of GDF3 mutations. The purpose of the present study was to identify potential pathological mutations in the GDF3 gene in Chinese children with non-syndromic CHDs, and to gain insight into the aetiology of non-syndromic CHDs.MethodsA total of 200 non-syndromic CHDs patients and 202 normal control patients were sampled. There were two exons of the human GDF3 gene amplified using polymerase chain reaction. The polymerase chain reaction products were purified and directly sequenced.ResultsOne missense mutation (c.C635T, p.Ser212 Leu, phenotype: isolated muscular ventricular septal defect) was found that has not been reported previously.ConclusionsTo the best of our knowledge, this is the first study to investigate the role of the GDF3 gene in non-syndromic CHDs. Our results expand the spectrum of mutations associated with CHDs and first suggest the potentially disease-related GDF3 gene variant in the pathogenesis of CHDs.

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Analysis of the association of polymorphisms CASR and VDR with the development of nephrolithiasis in patients with primary hyperparathyroidism

Problems of Endocrinology ◽

10.14341/probl20156154-8 ◽

2016 ◽

Vol 61 (5) ◽

pp. 4-8 ◽

Cited By ~ 2

Author(s):

Elena Viktorovna Peretokina ◽

Ekaterina Aleksandrovna Pigarova ◽

Natal'ya Georgievna Mokrysheva ◽

Lyudmila Yakovlevna Rozhinskaya ◽

Galina Viktorovna Baydakova ◽

...

Keyword(s):

Vitamin D ◽

Gene Polymorphisms ◽

Restriction Analysis ◽

Phosphorus Metabolism ◽

Chain Reaction ◽

Calcium Phosphorus ◽

Polymerase Chain ◽

Relationship Of ◽

The Relationship

Pathogenesis of nephrolithiasis (NL) at PHPT is not fully understood. Meanwhile, the detection of NL patients with PHPT is an absolute indication for parathyroidectomy. Conducted various studies aimed at finding a predictor of NL patients with PHPT. Actively study the role of genetic markers, particularly genes that regulate calcium-phosphorus metabolism.Objective — to assess the relationship of polymorphisms CASR and VDR with the development of the NL at PHPТ.Material and methods. A study to include 203 patients with confirmed PHPT, out of which 114 patients had the NL and 87 patients without NL. All patients were studied indicators calcium-phosphorus metabolism, the study of the level of PTH, vitamin D, the filtration function of the kidneys. All patients were studied indicators calcium-phosphorus metabolism, the level of PTH, vitamin D, the filtration function of the kidneys. The study of gene polymorphisms VDR (FokI, TaqI, BsmI, ApaI, Cdx2) was performed in 169 patients (113 with NL, 56 without NL) by polymerase chain reaction followed by restriction analysis; Study 3 polymorphisms CASR (A986S, R990G, Q1011E) was performed in 187 patients (110 with NL, 77 without NL), by direct sequencing.Results. No significant differences in the frequency of genotypes and alleles studied genes between the two groups has been received. According to logistic regression analysis, the only predictor of NL is the level of ionized calcium.Conclusions. The studied genes can not be used as predictors of the NL. May need to investigate other genes.

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Cyclo-oxygenase 2, a putative mediator of vessel remodeling, is expressed in the brain AVM vessels and associates with inflammation

Acta Neurochirurgica ◽

10.1007/s00701-021-04895-z ◽

2021 ◽

Author(s):

Sara Keränen ◽

Santeri Suutarinen ◽

Rahul Mallick ◽

Johanna P. Laakkonen ◽

Diana Guo ◽

...

Keyword(s):

Quantitative Polymerase Chain Reaction ◽

Rank Correlation ◽

Inflammatory Cells ◽

Vessel Remodeling ◽

Brain Avm ◽

Inflammatory Drugs ◽

Polymerase Chain ◽

The Brain ◽

Cox2 Expression

Abstract Background Brain arteriovenous malformations (bAVM) may rupture causing disability or death. BAVM vessels are characterized by abnormally high flow that in general triggers expansive vessel remodeling mediated by cyclo-oxygenase-2 (COX2), the target of non-steroidal anti-inflammatory drugs. We investigated whether COX2 is expressed in bAVMs and whether it associates with inflammation and haemorrhage in these lesions. Methods Tissue was obtained from surgery of 139 bAVMs and 21 normal Circle of Willis samples. The samples were studied with immunohistochemistry and real-time quantitative polymerase chain reaction (RT-PCR). Clinical data was collected from patient records. Results COX2 expression was found in 78% (109/139) of the bAVMs and localized to the vessels’ lumen or medial layer in 70% (95/135) of the bAVMs. Receptors for prostaglandin E2, a COX2-derived mediator of vascular remodeling, were found in the endothelial and smooth muscle cells and perivascular inflammatory cells of bAVMs. COX2 was expressed by infiltrating inflammatory cells and correlated with the extent of inflammation (r = .231, p = .007, Spearman rank correlation). COX2 expression did not associate with haemorrhage. Conclusion COX2 is induced in bAVMs, and possibly participates in the regulation of vessel wall remodelling and ongoing inflammation. Role of COX2 signalling in the pathobiology and clinical course of bAVMs merits further studies.

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Associations of MC4R, LEP, and LEPR Polymorphisms with Obesity-Related Parameters in Childhood and Adulthood

Genes ◽

10.3390/genes12060949 ◽

2021 ◽

Vol 12 (6) ◽

pp. 949

Author(s):

Asta Raskiliene ◽

Alina Smalinskiene ◽

Vilma Kriaucioniene ◽

Vaiva Lesauskaite ◽

Janina Petkeviciene

Keyword(s):

Gene Polymorphisms ◽

Energy Homeostasis ◽

Anthropometric Measurements ◽

Gene Variants ◽

Chain Reaction ◽

Fat Level ◽

Mc4r Rs17782313 ◽

Polymerase Chain ◽

Lep Gene

MC4R, LEP, and LEPR genes are involved in the hypothalamic leptin-melanocortin regulation pathway, which is important for energy homeostasis. Our study aimed to evaluate the associations between the MC4R rs17782313, LEP rs7799039, and LEPR rs1137101 polymorphisms with obesity-related parameters in childhood and adulthood. The data were obtained from the Kaunas Cardiovascular Risk Cohort study, which started in 1977 with 1082 participants aged 12–13 years. In 2012–2014, the follow-up survey was carried out. Genotype analysis of all respondents (n = 509) aged 48–49 years was performed for the gene polymorphisms using Real-Time Polymerase Chain Reaction. Anthropometric measurements were performed in childhood and adulthood. In childhood, only skinfold thicknesses were associated with gene variants being the lowest in children with MC4R TT genotype and LEP AG genotype. In adulthood, odds of obesity and metabolic syndrome was higher in MC4R CT/CC genotype than TT genotype carriers (OR 1.8; 95% CI 1.2–2.8 and OR 1.6; 95% CI 1.1–2.4, respectively). In men, physical activity attenuated the effect of the MC4R rs17782313 on obesity. The LEP GG genotype was associated with higher BMI, waist circumference, and visceral fat level only in men. No associations of the LEPR rs1137101 polymorphisms with anthropometric measurements and leptin level were found. In conclusion, the associations of the MC4R and LEP gene polymorphisms with obesity-related parameters strengthened with age.

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