scholarly journals An association study of the HSPA8 gene polymorphisms with schizophrenia in a Polish population

2021 ◽  
Author(s):  
Malgorzata Kowalczyk ◽  
Aleksander Owczarek ◽  
Renata Suchanek-Raif ◽  
Krzysztof Kucia ◽  
Jan Kowalski
Keyword(s):  
Psychiatric Symptoms ◽  
Recessive Model ◽  
Synaptic Proteins ◽  
Genotype Distribution ◽  
Polish Population ◽  
Gender Stratification ◽  
Vesicle Recycling ◽  
Heat Shock Cognate 70 ◽  
Increasing Risk ◽  
Novel Associations

AbstractHeat shock cognate 70 (HSC70/HSPA8) is considered to be a promising candidate gene for schizophrenia (SCZ) due to its many essential functions and potential neuroprotective properties in the CNS (e.g., HSC70 is involved in the turnover of the synaptic proteins, synaptic vesicle recycling, and neurotransmitter homeostasis). An alteration in the expression of HSPA8 in SCZ has been reported. This implies that the genetic variants of HSPA8 might contribute to schizophrenia pathogenesis. The present study attempted to determine whether HSPA8 polymorphisms are associated with a susceptibility to schizophrenia or whether they have an impact on the clinical parameters of the disease in a Polish population. A total of 1066 participants (406 patients and 660 controls) were recruited for the study. Five SNPs of the HSPA8 gene (rs2236659, rs1136141, rs10892958, rs1461496, and rs4936770) were genotyped using TaqMan assays. There were no differences in the allele or genotype distribution in any of the SNPs in the entire sample. We also did not find any HSPA8 haplotype-specific associations with SCZ. A gender stratification analysis revealed that an increasing risk of schizophrenia was associated with the rs1461496 genotype in females (OR: 1.68, p < 0.05) in the recessive model. In addition, we found novel associations between HSPA8 SNPs (rs1136141, rs1461496, and rs10892958) and the severity of the psychiatric symptoms as measured by the PANSS. Further studies with larger samples from various ethnic groups are necessary to confirm our findings. Furthermore, studies that explore the functional contribution of the HSPA8 variants to schizophrenia pathogenesis are also needed.

scholarly journals An Interdependence between Estrogen Receptor 1 Gene Polymorphisms and Susceptibility to Breast Cancer

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Maryam Saneipour ◽  
Abdolkarim Sheikhi ◽  
Abbas Moridnia
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Allele Frequency ◽  
Genetic Alterations ◽  
Recessive Model ◽  
Control Group ◽  
Genotype Distribution ◽  
Increased Risk ◽  
Significant Difference ◽  
Estrogen Receptor 1

Background: Breast cancer (BC) is the most common malignant tumor in women around the world. Genetic factors do play a vital role in the development and progression of BC. Genetic alterations in the ESR1 (estrogen receptor 1) gene can lead to estrogen dysfunction and increased risk for BC. Nevertheless, due to genetic diversity, the information from different studies is contradictory and controversial. Objectives: This study aimed to investigate the potential relationship between the rs1801132 and rs2234693 single nucleotide polymorphism (SNPs) of the ESR1 gene with susceptibility to BC in the Iranian population. Methods: The genotyping of the rs2234693 and rs1801132 SNPs was assessed in 63 BC patients referred to Imam Hasan Mojtaba Center, which is a charity-based foundation for cancer care in Dezful, Iran, from March 2018 to November 2019. Also, 65 healthy women were selected as a control group. The genotyping of the SNPs was performed using the high-resolution melting (HRM) technique and confirmed by DNA sequencing. Results: The genotype distribution and allele frequency of the rs2234693 SNP were significantly different in BC patients compared to the control group (genotype frequency with P = 0.018 and allele frequency with P = 0.004, OR = 2.085, 95% CI = 1.253 -3.468). In genetic models, rs2234693 increased BC risk in recessive model (P = 0.005, OR = 2.813, 95% CI = 1.363 - 5.802). However, there was no significant difference regarding genotype distribution of the rs1801132 SNP between the BC patients and controls. Conclusions: Our results showed that the CC genotype of the rs2234693 SNP is significantly associated with BC. Accordingly, it can be suggested that the rs2234693 SNP be considered for susceptibility to BC.

Potential Impact of MicroRNA-423 Gene Variability in Coronary Artery Disease

2019 ◽  
Vol 19 (1) ◽  
pp. 67-74 ◽  
Author(s):  
Chandan K. Jha ◽  
Rashid Mir ◽  
Imadeldin Elfaki ◽  
Naina Khullar ◽  
Suriya Rehman ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Recessive Model ◽  
Amplification Refractory Mutation System ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Increased Risk ◽  
Significant Difference ◽  
Artery Disease ◽  
Gene Variability

Aim: Studies have evaluated the association of miRNA-423 C>A genotyping with the susceptibility to various diseases such cancers, atherosclerosis and inflammatory bowel disease but the results were contradictory. However, no studies have reported the association between miRNA-423 rs6505162 C>A polymorphism and susceptibility of coronary artery disease. MicroRNAs regulate expression of multiple genes involved in atherogenesis. Therefore, we investigated the association of microRNA-423C>T gene variations with susceptibility to coronary artery disease. Methodology: This study was conducted on 100 coronary artery disease patients and 117 matched healthy controls. The genotyping of the microRNA-423 rs6505162C>A was performed by using Amplification refractory mutation system PCR method (ARMS-PCR). Results: A significant difference was observed in the genotype distribution among the coronary artery disease cases and sex-matched healthy controls (P=0.048). The frequencies of all three genotypes CC, CA, AA reported in the patient’s samples were 55%, 41% and 4% and in the healthy controls samples were 55%, 41% and 4% respectively. Our findings showed that the microRNA-423 C>A variant was associated with an increased risk of coronary artery disease in codominant model (OR = 1.96, 95 % CI, 1.12-3.42; RR 1.35(1.05-1.75, p=0.017) of microRNA-423CA genotype and significant association in dominant model (OR 1.97, 95% CI (1.14-3.39), (CA+AA vs CC) and non-significant association for recessive model (OR=1.42, 95%CI=0.42-4.83, P=0.56, AA vs CC+CA).While, the A allele significantly increased the risk of coronary artery disease (OR =1.56, 95 % CI, 1.03-2.37; p=0.035) compared to C allele. Therefore, it was observed that more than 1.96, 1.97 and 1.56 fold increased risk of developing coronary artery disease. Conclusion: Our findings indicated that microRNA-423 CA genotype and A allele are associated with an increased susceptibility to Coronary artery disease.

scholarly journals Th17 lymphocytes drive vascular and neuronal deficits in a mouse model of postinfectious autoimmune encephalitis

2020 ◽  
Vol 117 (12) ◽  
pp. 6708-6716 ◽  
Author(s):  
Maryann P. Platt ◽  
Kevin A. Bolding ◽  
Charlotte R. Wayne ◽  
Sarah Chaudhry ◽  
Tyler Cutforth ◽  
...  
Keyword(s):  
Microglial Activation ◽  
Neural Circuit ◽  
Psychiatric Symptoms ◽  
Neuropsychiatric Symptoms ◽  
Autoimmune Encephalitis ◽  
Abrupt Onset ◽  
Synaptic Proteins ◽  
Excitatory Synapses ◽  
Odor Processing ◽  
Th17 Lymphocytes

Antibodies against neuronal receptors and synaptic proteins are associated with a group of ill-defined central nervous system (CNS) autoimmune diseases termed autoimmune encephalitides (AE), which are characterized by abrupt onset of seizures and/or movement and psychiatric symptoms. Basal ganglia encephalitis (BGE), representing a subset of AE syndromes, is triggered in children by repeated group AStreptococcus(GAS) infections that lead to neuropsychiatric symptoms. We have previously shown that multiple GAS infections of mice induce migration of Th17 lymphocytes from the nose into the brain, causing blood–brain barrier (BBB) breakdown, extravasation of autoantibodies into the CNS, and loss of excitatory synapses within the olfactory bulb (OB). Whether these pathologies induce functional olfactory deficits, and the mechanistic role of Th17 lymphocytes, is unknown. Here, we demonstrate that, whereas loss of excitatory synapses in the OB is transient after multiple GAS infections, functional deficits in odor processing persist. Moreover, mice lacking Th17 lymphocytes have reduced BBB leakage, microglial activation, and antibody infiltration into the CNS, and have their olfactory function partially restored. Th17 lymphocytes are therefore critical for selective CNS entry of autoantibodies, microglial activation, and neural circuit impairment during postinfectious BGE.

Occurrence rate and genotype distribution of the JC virus (JCV) in a sample from the Polish population

2008 ◽  
Vol 80 (6) ◽  
pp. 1079-1083 ◽  
Author(s):  
Dariusz Kmieciak ◽  
Szymon Dębicki ◽  
Wiesław H. Trzeciak
Keyword(s):  
Jc Virus ◽  
Occurrence Rate ◽  
Genotype Distribution ◽  
Polish Population

scholarly journals Apheresis in Autoimmune Encephalitis and Autoimmune Dementia

2020 ◽  
Vol 9 (9) ◽  
pp. 2683 ◽  
Author(s):  
Rosa Rössling ◽  
Harald Prüss
Keyword(s):  
Clinical Symptoms ◽  
Psychiatric Symptoms ◽  
Autoimmune Encephalitis ◽  
Synaptic Proteins ◽  
First Line ◽  
First Line Therapy ◽  
Neuronal Autoantibodies ◽  
Neurodegenerative Dementia ◽  
Pathogenic Antibodies ◽  
Clinical Conditions

Autoimmune encephalitis (AE) is a rapidly progressive inflammatory neurological disease. Underlying autoantibodies can bind to neuronal surfaces and synaptic proteins resulting in psychiatric symptoms, focal neurological signs, autonomic dysfunction and cognitive decline. Early and effective treatment is mandatory to reduce clinical symptoms and to achieve remission. Therapeutic apheresis, involving both plasma exchange (PE) and immunoadsorption (IA), can rapidly remove pathogenic antibodies from the circulation, thus representing an important first-line treatment in AE patients. We here review the most relevant studies regarding therapeutic apheresis in AE, summarizing the outcome for patients and the expanding clinical spectrum of treatment-responsive clinical conditions. For example, patients with slowly progressing cognitive impairment suggesting a neurodegenerative dementia can have underlying autoantibodies and improve with therapeutic apheresis. Findings are encouraging and have led to the first ongoing clinical studies assessing the therapeutic effect of IA in patients with anti-neuronal autoantibodies and the clinical presentation of dementia. Therapeutic apheresis is an established and well tolerated option for first-line therapy in AE and, potentially, other antibody-mediated central nervous system diseases.

scholarly journals POLYMORPHISM OF TISSUE INHIBITORS OF METALLOPROTEINASE-2 (G303 → A) GENE IN PATIENTS WITH INTESTINAL ANASTOMOTIC LEAK IN UKRAINIAN POPULATION

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Y.Y. Voitiv
Keyword(s):  
Statistical Analysis ◽  
Anastomotic Leak ◽  
Information Criterion ◽  
Recessive Model ◽  
Control Group ◽  
Genotype Distribution ◽  
Tissue Inhibitors ◽  
Tissue Inhibitors Of Metalloproteinase ◽  
Polymorphic Variants ◽  
Connective Tissue Pathology

Purpose - to analyze the frequency of polymorphic variants of tissue inhibitors ofmetalloproteinase-2 (G303 → A) gene in patients with intestinal anastomotic leak.Material and methods. The object of the study comprises 61 patients with anastomotic leakand connective tissue pathology, who were treated in the department of thoracoabdominalsurgery of Shalimov National Institute of Surgery and Transplantology during 2017-2020. Laboratory, genetic, histological studies and statistical analysis were performed.Results. As a result of genetic and statistical analysis of the tissue inhibitors ofmetalloproteinase-2 (G303 → A) gene polymorphisms, genotype variants have beenidentified that are associated with the risk of anastomotic leak in the hollow digestiveorgans. Significant differences in the distribution of genotypes in the studied groupswere revealed. Analysis of the multiplicative model of inheritance of tissue inhibitors ofmetalloproteinase-2 (G303 → A) gene showed compliance of genotype distribution withHardy-Weinberg's law. All models of inheritance were analyzed and the best model withthe lowest Akaike Information Criterion, which turned out to be a recessive model, hasbeen determined.Conclusions. It is statistically significant that in the group of patients with intestinalanastomotic leak the GG variant of the TIMP-2 gene was detected in 1,6 times moreoften. Carriers of minor homozygotes of AA genotype in the group with suture failurewere not detected, while a similar genotype in the control group was found in 10%(p <0,05).

scholarly journals Association of NLRP1 and NLRP3 Polymorphisms with Psoriasis Vulgaris Risk in the Chinese Han Population

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Pei Yu ◽  
Siyu Hao ◽  
Hewei Zheng ◽  
Xueying Zhao ◽  
Yuzhen Li
Keyword(s):  
Psoriasis Vulgaris ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Ligation Detection Reaction ◽  
Control Study

Aim. To clarify the association between the single nucleotide polymorphisms (SNPs) in the NLRP1 and NLRP3 and Psoriasis Vulgaris (PsV) in the Chinese Han population. Methods. We genotyped eight SNPs, four from NLRP1 (rs8079034, rs11651270, rs11657747, and rs878329) and NLRP3 (rs7512998, rs3806265, rs10754557, and rs10733113) each in 540 patients with PsV and 612 healthy controls in the Chinese Han population using an improved multiplexed ligation detection reaction (iMLDR) method. The genotype and haplotype frequencies were analyzed using a case-control study design. Results. We identified two SNPs, rs3806265 and rs10754557, in NLRP3 that were significantly associated with PsV. The genotype distribution of the rs3806265 SNP was significantly different between cases and controls (p=0.0451; OR = 0.791; 95% CI = 0.627–0.998). In the recessive model, the genotype distribution of the rs10754557 SNP was significantly different between cases and controls (p=0.0344; OR = 1.277; 95% CI = 0.987–1.652). The haplotype analysis of rs3806265 and rs10754557 also presented a significant association of TA haplotype with PsV (χ2=4.529; p=0.033). Conclusion. NLRP3 may play a role in PsV susceptibility in the Chinese Han population.

MicroRNA-224 (rs188519172 A>G) Gene Variability is Associated with a Decreased Susceptibility to Coronary Artery Disease: A Case-Control Study

MicroRNA ◽  
2019 ◽  
Vol 8 (3) ◽  
pp. 198-205 ◽  
Author(s):  
Rashid Mir ◽  
Chandan K. Jha ◽  
Imadeldin Elfaki ◽  
Suriya Rehman ◽  
Jamsheed Javid ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Recessive Model ◽  
Amplification Refractory Mutation System ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Significant Difference ◽  
Mutation System ◽  
Artery Disease ◽  
Gene Variability

Aim: The microRNAs regulate the expression of multiple genes involved in diseases such as cancer, diabetes and cardiovascular disease. In this study, we have investigated the association between the miR-224 gene polymorphism (rs188519172A>G) and susceptibility of coronary artery disease CAD. Methodology: Hundred CAD patients and 100-matched healthy control were included. Genotyping of the miR-224 (rs188519172A>G) polymorphism was performed using Amplification refractory mutation system PCR method (ARMS-PCR). Results: A significant difference was observed in the genotype distribution among CAD patients and healthy controls (P=0.018). The frequencies of all three genotypes GG, GA, AA reported in the patient’s samples were 33%, 66% and 01%, and in the healthy controls samples, were 16%, 82% and 2% respectively. A multivariate analysis based on logistic regression was conducted for each group to estimate the association between miR-224 rs188519172 genotypes and risk to coronary artery disease. Results show that the miR-224 (rs188519172 A>G) polymorphism was associated with a decreased risk to CAD in a codominant model, GA genotype vs. GG (OR = 0.39 (95 % CI, 0.19-0.76), RR 0.58 (0.38-0.90, P=0.006). In the dominant model, (GA+AA vs. GG), there was also a significant association with the OR=0.38 (95 % CI (0.19-0.76), RR 0.58 (0.38-0.89), and P=0.006. Whereas, in the recessive model, (GG+GA vs. AA), there was no significant association of CAD with OR=0.49 (95% CI (0.044-5.54), RR 0.74 (0.33-1.68), and P=0.48. Conclusion: Our findings indicated that miR-224 (rs188519172) GA genotype is associated with a decreased susceptibility to CAD.

Az autoimmun encephalitisek laboratóriumi vizsgálati lehetőségei

2018 ◽  
Vol 159 (3) ◽  
pp. 107-112
Author(s):  
Katalin Böröcz ◽  
Zsófia Hayden ◽  
Viktória Mészáros ◽  
Zsuzsanna Csizmadia ◽  
Kornélia Farkas ◽  
...  
Keyword(s):  
Psychiatric Symptoms ◽  
Early Stage ◽  
Neuronal Cell ◽  
Autoimmune Encephalitis ◽  
Immunosuppressive Drugs ◽  
Synaptic Proteins ◽  
Receptor Proteins ◽  
Surface Receptors ◽  
The Past ◽  
Paraneoplastic Limbic Encephalitis

Abstract: Introduction: The role of autoimmune responses against central nervous system (CNS) antigens in encephalitis presenting with non-classified neurologic or psychiatric symptoms has been appreciated in the past decade. Paraneoplastic limbic encephalitis has a poor prognosis and is most commonly associated with lung, ovarium, and testicular neoplasms, leading to immune reactions against intracellular antigens (anti-Hu/ANNA1, anti-Ri/ANNA2, anti-CV2/CRMP5 and anti-Ma2/Ta). In contrast, the recently described autoimmune encephalitis subtypes present with a broad spectrum of symptoms, respond to autoimmune therapies well and usually associate with autoantibodies against neuronal cell surface receptors (NMDAR, GABABR, AMPAR) or synaptic proteins (LGI1, CASPR2). Aim: Our aim is to bring to awareness the increasing number of autoimmune encephalitis patients requiring neurologic, psychiatric and intensive care and to emphasize the significance of detecting various autoantibodies in diagnosing patients. Method: In the past 6 years, our laboratory received 836 autoimmune encephalitis diagnostic test requests from a total of 717 patients. Serum and cerebrospinal fluid (CSF) samples were analysed with indirect immunofluorescence using a BIOCHIP consisting of cell lines transfected with 6 different receptor proteins. Results: IgG autoantibodies against receptor proteins were present in 7.5% of patients. The frequency of positive samples was the following: NMDAR > LGI1 > GABABR > CASPR2. Conclusion: Detecting autoantibodies facilitates the diagnosis of autoimmune encephalitis in an early stage. Patients diagnosed early can be effectively treated with plasmapheresis and immunosuppressive drugs. The efficiency of therapies can be monitored by autoantibody detection. Therefore, the diagnostic immune laboratory plays an important role in proper diagnosis and in the prevention of rapidly progressing symptoms. Orv Hetil. 2018; 159(3): 107–112.

Sign in / Sign up

Export Citation Format

Share Document