scholarly journals Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran

2021 ◽  
Vol 12 (1) ◽  
pp. 57-62
Author(s):  
Nahid Mizban ◽  
◽  
Nasim Vousooghi ◽  
Nasrin Mizban ◽  
◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Neurodegenerative Disorder ◽  
Genotype Distribution ◽  
Scaffolding Proteins ◽  
Allele Distribution ◽  
The North ◽  
Increased Risk ◽  
Significant Difference ◽  
North Of Iran ◽  
Domain 3

Introduction: Parkinson Disease (PD), the second most common chronic neurodegenerative disorder, is characterized by tremor, bradykinesia, rigidity, and postural instability. SHANK3 (SH3 and multiple ankyrin repeat domain 3) belongs to the extremely conserved ProSAP/ Shank family of synaptic scaffolding proteins. Meanwhile, rs9616915 is a non-synonymous SNP (T>C) located in the exon 6 of the SHANK3 gene, which induces substitution of isoleucine to threonine and affects the function of the resulted protein. The present study aimed to evaluate whether rs9616915 polymorphism of SHANK3 is involved in the susceptibility to PD. Methods: The study subjects were 100 patients diagnosed with PD and 100 control volunteers. The obtained samples were evaluated by the polymerase chain reaction-restriction fragment length polymorphism method. Results: A significant association was found in genotype distribution between cases and controls. Individuals with TC genotype had increased risk of PD (P=0.035, OR=1.98, 95% CI=1.04 - 3.74). No significant difference was found in allele distribution (P=0.7). Conclusion: The findings suggest that the SHANK3 rs9616915 polymorphism is associated with an increased risk of PD in the population. Further studies are needed to confirm the role of the SHANK3 gene in PD.

scholarly journals LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Monika Buraczynska ◽  
Jerry Jacob ◽  
Karolina Gwiazda-Tyndel ◽  
Andrzej Ksiazek
Keyword(s):  
Cardiovascular Disease ◽  
Kidney Disease ◽  
Gene Polymorphism ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
End Stage Kidney Disease ◽  
Allele Distribution ◽  
Increased Risk ◽  
Significant Difference ◽  
End Stage

Abstract Background The low-density lipoprotein receptor (LDLR) plays a significant role in maintaining the cellular cholesterol homeostasis. Mutations in the LDLR gene can lead to a significant rise in plasma LDL levels that may result in an increased risk of atherosclerosis and coronary heart disease. The purpose of this study was to assess the potential association of the LDLR rs688 polymorphism with cardiovascular disease (CVD) in patients with end-stage kidney disease (ESKD) undergoing hemodialysis. Methods In this case-control study the polymorphism was genotyped by the allele specific PCR method in 800 patients with ESKD and 500 healthy controls. The genotype and allele distribution was compared in subgroups of patients with CVD (552) versus those without CVD (248). Results A significant difference was observed in genotype distribution among ESKD patients and healthy controls. The frequencies of the T allele and TT genotype in ESKD group were significantly higher, with OR (95% CI) 2.2 (1.87–2.6), p <  0.0001 and 5.84 (3.94–8.65), p <  0.0001, respectively. In the he ESKD cohort the distribution of the rs688 was compared between CVD+ and CVD- subgroups. A strong association of the polymorphism with the CVD risk was observed in this analysis. The frequencies of the T allele and TT genotype were significantly higher in CVD+ subgroup, with OR (95% CI) 3.4 (2.71–4.26), p <  0.0001 and 13.2 (7.87–22.09), p <  0.0001, respectively. A multivariate logistic regression analysis was performed to estimate the association between rs688 T variant and risk of CVD. After adjustment for age, sex, BMI, hypertension and diabetes, both CT and TT genotypes were associated with an increased risk of developing CVD in the dominant, recessive and codominant models of inheritance. No significant differences in serum LDL cholesterol levels were found when compared between genotypes. Conclusions The present study is the first to demonstrate the association of the LDLR gene polymorphism with increased susceptibility to cardiovascular disease in ESKD patients. This finding needs further investigation to confirm that LDLR rs688 might be a novel genetic risk factor with some prognostic capacity for CVD in ESKD patients.

scholarly journals Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e8521
Author(s):  
Yingli Fu ◽  
Na Zhou ◽  
Wei Bai ◽  
Yaoyao Sun ◽  
Xin Chen ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Chinese Women ◽  
Han Chinese ◽  
Type I ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Increased Risk ◽  
Significant Difference

Background Schizophrenia (SCZ) is a severely complex psychiatric disorder in which ~80% can be explained by genetic factors. Single nucleotide polymorphisms (SNPs) in calcium channel genes are potential genetic risk factors for a spectrum of psychiatric disorders including SCZ. This study evaluated the association between SNPs in the voltage-gated calcium channel auxiliary subunit alpha2delta 2 gene (CACNA2D2) and SCZ in the Han Chinese population of Northeast China. Methods A total of 761 SCZ patients and 775 healthy controls were involved in this case-control study. Three SNPs (rs3806706, rs45536634 and rs12496815) of CACNA2D2 were genotyped by the MALDI-TOF-MS technology. Genotype distribution and allele frequency differences between cases and controls were tested by Chi-square (χ2) in males and females respectively using SPSS 24.0 software. Linkage disequilibrium and haplotype analyses were conducted using Haploview4.2. The false discovery rate correction was utilized to control for Type I error by R3.2.3. Results There was a significant difference in allele frequencies (χ2 = 9.545, Padj = 0.006) and genotype distributions (χ2 = 9.275, Padj = 0.006) of rs45536634 between female SCZ patients and female healthy controls after adjusting for multiple comparisons. Minor allele A (OR = 1.871, 95% CI [1.251–2.798]) and genotype GA + AA (OR = 1.931, 95% CI [1.259–2.963]) were associated with an increased risk of SCZ. Subjects with haplotype AG consisting of rs45536634 and rs12496815 alleles had a higher risk of SCZ (OR = 1.91, 95% CI [1.26–2.90]) compared those with other haplotypes. Conclusions This study provides evidence that CACNA2D2 polymorphisms may influence the susceptibility to SCZ in Han Chinese women.

scholarly journals CRP Gene Polymorphism and Their Risk Association With Type 2 Diabetes Mellitus

2019 ◽  
Vol 7 (1) ◽  
pp. 33-37
Author(s):  
Hakim Bahlok Jebur ◽  
Mirza Masroor ◽  
Hafiz Ahmad ◽  
Naushad Ahmad Khan ◽  
Juheb Akther ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Gene Polymorphism ◽  
Inflammatory Marker ◽  
Genotype Distribution ◽  
Reactive Protein ◽  
Specific Pcr ◽  
Increased Risk ◽  
Significant Difference ◽  
Allele Specific

BACKGROUND: C-reactive protein (CRP) is an inflammatory marker associated with T2DM, obesity, insulin resistance, and cardiovascular disease. AIM: The present study evaluates the association of CRP +1059 G/C polymorphism of the CRP gene in 100 T2D cases and 100 healthy controls. METHODS: Present study was done by allele specific PCR method to study the CRP gene polymorphism in study subjects. RESULTS: Study found that CRP (+1059 G/C) genotype distribution among case and controls was found to be significant (p=0.001), Higher CRP C allele frequency (0.16) was observed compared to controls (0.04). CRP +1059 GC and CC had 2.72 (1.12-6.61), 20.56 (1.16-362.1) risk for T2D. It has been observed, HTN, Obesity, Smoking and alcoholism was found to be associated with increased risk of T2D, and a significant difference was observed in biochemical parameters. CONCLUSION: Study concluded that CRP gene polymorphism was found to be associated with risk of Type 2 Diabetes and risk was linked with heterozygosity and mutant homozygosity. Hypertension, Obesity, Smoking and alcoholism increases the risk of occurrence of Type 2 Diabetes.

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.

scholarly journals Cyclin D1 G870A Variant is Associated with Increased Risk of Microsatellite Instability-Positive Colorectal Cancer in Young Male Patients

2007 ◽  
Vol 10 (2) ◽  
pp. 29-36
Author(s):  
T Josifovski ◽  
N Matevska ◽  
M Hiljadnikova-Bajro ◽  
Z Sterjev ◽  
A Kapedanovska ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Cyclin D1 ◽  
Regulatory Protein ◽  
Significant Risk ◽  
Young Male ◽  
Genotype Distribution ◽  
Increased Risk ◽  
Significant Difference ◽  
Male Patients

Cyclin D1 G870A Variant is Associated with Increased Risk of Microsatellite Instability-Positive Colorectal Cancer in Young Male PatientsCyclin D1 (CCND1) is a cell cycle regulatory protein, which is often over expressed in human tumors and is associated with cell proliferation and poor prognosis. A common G870A single nucleotide polymorphism at codon 242 in exon 4 of the CCND1 gene is associated with an altered messenger RNA transcript and increased risk of colorectal cancer (CRC) and adenoma in some studies. Over expression of CCND1 modifies the effect of mutations in mismatch repair (MMR) genes, enhances microsatellite instability (MSI), and influences the age ofonset of hereditary non polyposis colorectal cancer (HNPCC). We have extended our study that indicated that the CCND1 A variant may influence the age of onset of CRC in the Macedonian population only in patients who exhibit MSI tumors by a case control study of 331 randomly selected CRC patients and 101 controls without clinical diagnosis of CRC. We did not observe a significant difference in overall allelic frequencies and genotype distribution of affected and unaffected mutation carriers, but found a statistically significant risk of CRC in carriers of the CCND1 A allele when patients were grouped according to gender, age and MSI status. A higher risk was observed in patients with MSI-positive tumors and particularly in male patients under 60 years of age. The consequences of the above observation were reversed in female patients. These results indicate that the CCND1 A variant may enhance CRC progression through a pathway influenced by estrogens in colonic epithelia.

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 Healthcare use before and after changing disability pension policy: a regional Danish cohort study

2019 ◽  
Vol 29 (6) ◽  
pp. 1068-1073 ◽  
Author(s):  
Line J Borup ◽  
Nanna Ø Weye ◽  
Vibeke Jensen ◽  
Kirsten Fonager
Keyword(s):  
Policy Change ◽  
Disability Pension ◽  
Security Policy ◽  
Pension Policy ◽  
Healthcare Use ◽  
The North ◽  
Increased Risk ◽  
Significant Difference ◽  
Before And After ◽  
Eligibility Requirements

Abstract Background The social security policy for disability pension (DP) was changed in Denmark in 2013 and eligibility requirements were tightened. We describe and compare the use of healthcare among individuals with incident DP before and after the policy change. Methods This was a follow-up study based on data from nationwide databases. The study included individuals with incident DP aged 18–64 years and living in The North Denmark Region. We included individuals with incident DP before (2010–12, n = 6286) and after (2014–15, n = 1042) the 2013 policy change. Poisson regression was used to examine group differences in (i) contact to healthcare and (ii) hospitalization. For this purpose, we used incidence rate ratios stratified on type of contact before being awarded DP. Results We found a change of diagnoses for healthcare use towards higher proportions of cardiovascular, pulmonary, neurological and cancer diseases and lower proportion with musculoskeletal disorder in the populations being granted DP after policy changes. For individuals with psychiatric contact before being granted DP, we found no significant differences between periods in psychiatric healthcare after DP was awarded. For individuals with somatic contact before being granted DP, we found an increased risk of contact to somatic healthcare and hospitalization after DP requirements were tightened. Conclusion The study demonstrated that individuals who were granted DP after the eligibility requirements had been tightened suffered from more medical conditions and had an ongoing need for healthcare. In contrast, no significant difference in risk of psychiatric contact or hospitalization after DP was demonstrated.

scholarly journals GLU298ASP and 4G/5G Polymorphisms and the Risk of Ischemic Stroke in Young Individuals

2015 ◽  
Vol 42 (5) ◽  
pp. 310-316 ◽  
Author(s):  
Juan Carlos Esparza-García ◽  
David Santiago-Germán ◽  
María Guadalupe Valades-Mejía ◽  
Jesus Hernández-Juárez ◽  
Eberth Aguilar-Sosa ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Allele Frequency ◽  
Plasminogen Activator Inhibitor ◽  
Mexican Population ◽  
Genotype Distribution ◽  
Plasminogen Activator Inhibitor 1 ◽  
Increased Risk ◽  
Significant Difference ◽  
And Gender ◽  
Endothelial Nitric Oxide

AbstractBackground: Polymorphisms in the endothelial nitric oxide synthase (eNOS) and in the plasminogen activator inhibitor -1 (PAI-1) genes have been implicated in stroke pathogenesis but results are still controversial. The aim of this study was to examine the possible contribution of Glu298Asp in the eNOS and 4G/5G in the PAI-1polymorphisms with ischemic stroke in a young Mexican population. Materials and Methods: In a case-control study, conducted between January 2006 and June 2010, 204 patients ≤45 years of age with ischemic stroke and 204 controls matched by age and gender, were recruited. The Glu298Asp and 4G/5G polymorphisms were determined in all participants by polymerase chain reaction-restriction fragment length polymorphism. Results: There was a significant difference in the Glu298Asp genotype distribution (P=0.001) and allele frequency between the two groups (P=0.001). The 4G/5G genotype distribution (P=0.40) and the allele frequency was similar between groups; (P=0.13). There were independent factors for ischemic stroke: Asp carriage (GluAsp+AspAsp) (P=0.02); smoking (P=0.01); hypertension (P=0.03), and familial history of atherothrombotic disease (P=0.04). Conclusions: The Asp allele from the Gu298Asp gene represents an independent risk factor for ischemic stroke in a young Mexican population. In contrast, the 4G/5G was not associated with an increased risk for this disease in the same group of patients, as previously has been demonstrated in other populations.

scholarly journals Clinical features and para-clinical findings of cryptococcal meningitis in the North of Iran during 2011-19

2021 ◽  
Author(s):  
Farhang Babamahmoodi ◽  
Kobra Gerizade firozjaii ◽  
Masoumeh Bayani ◽  
Tahereh Shokohi ◽  
Jamshid Yazdani ◽  
...  
Keyword(s):  
Length Of Hospital Stay ◽  
Signs And Symptoms ◽  
Underlying Disease ◽  
Clinical Findings ◽  
Hiv Positive ◽  
The North ◽  
Medication Consumption ◽  
Significant Difference ◽  
North Of Iran ◽  
Hiv Negative

Background and Purpose:Cryptococcalmeningitis (CM) is a serious fungal infection that especially affectspatients with human immunodeficiency virus (HIV). In this regard,the present retrospective study aimed to analyze the clinical and laboratory features and therapeutic outcomes of patients with CM admitted to two teaching referral centersin the north of Iran during 2011-19. Materials and Methods:This study was performed onall the hospitalized patients diagnosed with CM in two therapeutic centers of infectious diseases in the north of Iran. The required data,such as demographic characteristics and clinical and paraclinical features of patients, were extracted and entered in the information forms. Finally, the collected data were analyzed inSPSSsoftware(version16). Results:For the purpose of the study, records of 12confirmed CM patients were evaluatedin this research. Based on the results,75% of the patients were male. Moreover,the average age of the subjects was 40.33± 8.93 years old and 66.6%ofthem(n=8) were HIV-positive. Other underlying diseases among HIV-positive patients included infection with hepatitis C virus (25%) and a history of tuberculosis (25%). In total, threeHIV-negative patients suffered from Hodgkin lymphoma (25%), sarcoidosis (25%),and asthma (25%) and one patient (25%) had no underlying disease. Headache (75%), weakness,and fatigue (75%) were the most common symptoms among the participants. The cluster of differentiation 4count in all HIV-positive patients was less than 100 cells/μl. There was no significant difference between symptoms in HIV-positive and HIV-negative patients. Besides, no significant difference was observed between the groups of HIV-positive and HIV-negative patients regarding the period between the onset of symptoms and diagnosis of CM,the length of hospital stay,and the duration of antifungal medication consumption. In total,three patients (25%) expired,and six patients recovered. The CM recurred in two HIV-negative and oneHIV-positive subjects;the two HIV-negative patients were treated,whilethe HIV-positive patient expired due to this recurrence. Conclusion:Clinical features and cerebrospinal fluid parameters were not different in HIV-positive and HIV-negative participants. Despite the fact thatCM is not common in Iran, due to the increasing number of immunosuppressive patients, the differential diagnosis of CM should be considered for patients with signs and symptoms of infection in the central nervous system.

scholarly journals miR-372 (rs12983273) and LncRNA HULC (rs7763881) Genetic Polymorphisms and Susceptibility to Hepatitis B Virus (HBV) Infection

2021 ◽  
Author(s):  
roba talaat ◽  
Samar M. Shahen ◽  
Soha Z. Elshenawy ◽  
Salwa E. Mohamed
Keyword(s):  
Hbv Infection ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Significant Difference ◽  
B Virus ◽  
Risk Snps ◽  
Non Coding Rnas ◽  
Polymerase Chain

Abstract MicroRNAs (miRNAs) and Long non-coding RNAs (lncRNAs) are two major types of non-coding RNAs (ncRNAs) with regulatory roles. Genetic variation in the miRNAs and lncRNAs has been involved in the initiation and progression of many diseases. miRNA-LncRNA interactions are implicated in the regulation of many diseases, such as hepatitis infection. In this study, we assumed that single nucleotide polymorphisms (SNPs) in miR-372 (rs28461391 C/T) and HULC (rs7763881 A/C) might participate in HBV infection risk. SNPs rs28461391 in miR-372 and rs7763881 in HULC were genotyped in 100 HBV patients and 100 healthy controls using the Polymerase chain reaction sequence-specific primer technique (PCR-SSP). Our results showed no significant difference in miR-372 rs12983273 genotype distribution between both controls and HBV patients. On the other hand, there was a significant increase in HULC rs7763881 CC genotype (P<0.05) coincides with a significant decrease in AC genotype distribution (P<0.05) in HBV patients as compared to controls. Our results showed that the CC genotype is associated with an increased risk of HBV infection (OR= 3.43; CI: 1.3-9.07) while AA genotype is a protective one (OR= 0.3; CI: 0.13-9.07). Our results suggest that HULC rs7763881 A/C might be a biomarker for HBV susceptibility. However, larger sample studies are recommended to verify our preliminary data. To the best of our knowledge, the present study was the first to investigate the relevance of miR-372 (rs28461391 C/T) and HULC (rs7763881 A/C) gene polymorphisms to the risk of HBV infection in the Egyptian population.

Sign in / Sign up

Export Citation Format

Share Document