Association of P1635 and P1655 polymorphisms in dysbindin (DTNBP1) gene with schizophrenia

2012 ◽  
Vol 24 (3) ◽  
pp. 155-159 ◽  
Author(s):  
Fatemeh Alizadeh ◽  
Mohammad Amin Tabatabaiefar ◽  
Mohammad Ghadiri ◽  
Mir Saeed Yekaninejad ◽  
Nazanin Jalilian ◽  
...  

Objectives: Schizophrenia (SCZ) is a severe psychiatric disorder with a lifetime prevalence of approximately 1% in most of the populations studied. SCZ is multifactorial with the contribution of multiple susceptibility genes that could act in conjunction with epigenetic processes and environmental factors. There is some evidence supporting the association between genetic variants in dysbindin (DTNBP1) gene and SCZ in populations. In this study, we investigated the association between polymorphisms P1635 and P1655 in dysbindin gene with SCZ.Methods: Totally, 115 unrelated patients with SCZ and 117 unrelated healthy volunteers were studied. Genomic DNA was extracted from blood. Genotyping was done with the PCR-RFLP method. The allele and genotype associations were analysed with X2 test. The Benjamini-Hochberg procedure was used to correct p values for multiple comparisons.Results: The results showed no significant difference between patients and controls in allelic frequencies or genotypic distributions of SNP P1635 (p = 0.809), but a significant difference between the case and control groups for SNP P1655 (p = 0.009) was found. We could also find a significant positive association between A-C haplotype and SCZ (OR = 1.7, 95% CI 1.18–2.42; p = 0.004, pc = 0.02) and a protective effect for A-G haplotype (p = 0.003, OR = 0.57, 95% CI 1.18–2.42; p = 0.003, pc = 0.02).Conclusion: This study may provide further support for the association between SNP polymorphisms in DTNBP1 and SCZ in the Iranian population. Studies with more markers and subjects for various populations will be necessary to understand the genetic contribution of the gene to the development of SCZ.

2022 ◽  
Vol 67 (4) ◽  
pp. 328-333
Author(s):  
Weiwei Li ◽  
Na Li ◽  
Guohai Yang ◽  
Yanhua Li

Fever is a common symptom of infection in children. Periodic fever syndromes are less common but more complex. One of these Periodic fever syndromes is PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome which is known as the most benign syndromes. The cause of this disease is unknown. Various factors, including environmental and genetic factors, are involved in the development of this disease. In this study, the association of rs13075270 and rs13092160 polymorphisms were investigated in CCR1 and CCR3 genes with susceptibility to this syndrome in the Chinese population. In this regard, 38 patients with PFAPA syndrome and 100 healthy individuals were selected. After DNA sampling and extraction, polymorphisms of CCR1 and CCR3 receptor genes were examined by the PCR-RFLP method. Findings were analyzed using SPSS software version 22 with a significant level of P <0.05. The frequency of T/T genotype rs13092160 polymorphism in the patient and control groups was 78.95% and 83%, respectively, C/T genotype was 21.05% and 17% (P = 0.421). The frequency of the C/C genotype was 0 in both groups. Regarding rs13075270 polymorphism, the frequency of T/T genotype in patient and control groups was 15.79% and 81%, C/T genotype was 78.95% and 18% and C/C genotype was 5.26% and 1%, respectively (P<0.05). Thus, in rs13075270 polymorphism, the C/T genotype was associated with the risk of PFAPA syndrome (P<0.05), but rs13092160 polymorphism did not show a significant difference between individuals with PFAPA syndrome and controls.


Author(s):  
Mona Bustami ◽  
Abdel-Ellah Al-Shudifat ◽  
Nagham Hussein ◽  
Mohannad Yacoub ◽  
Eiad Atwa ◽  
...  

Sulfotransferases (SULTs) family plays a significant role in the biotransformation of a variety of xenobiotics and endogenous compounds by which carcinogenesis and mutagenicity of different malignancies are increasingly affected. Recent data identified various genetically polymorphic SULTs enzymes with significant variations in the enzyme activity. This study aimed to investigate the impact of SULT1A1 gene polymorphism and and its potential risk on females with breast cancer in Jordan using a PCR-RFLP and Sanger Sequencing methods. The analysis showed that 24.7% of the patients and 25.3% of the controls were homozygous for the SULT1A1*1 allele (SULT1A1*1/SULT1A1*1) compared to 8.8% and 5.7% homozygous for the SULT1A1*2 allele (SULT1A1*2/SULT1A1*2) for patients and controls respectively. Most of the patients and controls were heterozygous for SULT1A1*1 allele (SULT1A1*1/SULT1A1*2) with rates of 66.5% and 69.0% in patients and controls respectively. In addition, the frequencies of the mutant SULT1A1*2 allele were 0.42 and 0.4 in the patient and control groups respectively. No significant difference in genotype and allele distribution was noted between the breast cancer and control groups. The risk of breast cancer in individuals carrying the SULT1A1*2 allele was determined by combining the SULT1A1*1/SULT1A1*2 and ULT1A1*2/SULT1A1*2 genotypes. No association was observed between SULT1A1 polymorphism and breast cancer incidence (P = 0.63; OR, 0.93; 95% CI, 0.68&ndash;1.26). However, SULT1A1*2 allele was found to increase the risk of breast cancer by 1.26-fold.


Author(s):  
Mona Bustami ◽  
Abdel-Ellah Al-Shudifat ◽  
Nagham Hussein ◽  
Mohannad Yacoub ◽  
Eiad Atwa ◽  
...  

Sulfotransferases (SULTs) family plays a significant role in the biotransformation of a variety of xenobiotics and endogenous compounds by which carcinogenesis and mutagenicity of different malignancies are increasingly affected. Recent data identified various genetically polymorphic SULTs enzymes with significant variations in the enzyme activity. This study aimed to investigate the impact of SULT1A1 gene polymorphism and and its potential risk on females with breast cancer in Jordan using a PCR-RFLP and Sanger Sequencing methods. The analysis showed that 24.7% of the patients and 25.3% of the controls were homozygous for the SULT1A1*1 allele (SULT1A1*1/SULT1A1*1) compared to 8.8% and 5.7% homozygous for the SULT1A1*2 allele (SULT1A1*2/SULT1A1*2) for patients and controls respectively. Most of the patients and controls were heterozygous for SULT1A1*1 allele (SULT1A1*1/SULT1A1*2) with rates of 66.5% and 69.0% in patients and controls respectively. In addition, the frequencies of the mutant SULT1A1*2 allele were 0.42 and 0.4 in the patient and control groups respectively. No significant difference in genotype and allele distribution was noted between the breast cancer and control groups. The risk of breast cancer in individuals carrying the SULT1A1*2 allele was determined by combining the SULT1A1*1/SULT1A1*2 and SULT1A1*2/SULT1A1*2 genotypes. No association was observed between SULT1A1 polymorphism and breast cancer incidence (P = 0.63; OR, 0.93; 95% CI, 0.68-1.26). However, SULT1A1*2 allele was found to increase the risk of breast cancer by 1.26-fold.


Author(s):  
M Mohamad Nizam ◽  
A Othman ◽  
I Mohamad Ikram

Introduction: The study was performed to measure psychological problems in children with idiopathic nephrotic syndrome (INS) while on steroid therapy as compared to healthy children. Methods: It was a prospective cohort study conducted in a paediatric clinic of a tertiary hospital. Parents of participants, both in the INS group and the control group comprising children without chronic illness, were asked to complete questionnaires using the Child Behavioral Checklist (CBCL). CBCL measures a range of age-specific emotional and psychological problems including internalising and externalising domains. Analyses of the CBCL scores between groups were done using Mann-Whitney U test. Results: A total of 140 children were recruited with an equal number in the INS and control groups. There was a significant difference in the mean total CBCL scores between INS group children and control group children, specifically in the withdrawal, somatic, anxious, and aggressiveness sub-domains. Similar findings were demonstrated in a correlation between total psychological problems with the dosage of corticosteroid. Within the INS children, steroid dose and Cushingoid features were found to have a significant positive association with internalising psychological problems. Conclusion: Children with INS on corticosteroid treatment showed an increase in internalising and externalising scores compared to healthy children.


2016 ◽  
Vol 1 (1) ◽  
pp. 22
Author(s):  
Nazli Zainuddin ◽  
Nurul Azira Mohd Shah ◽  
Rosdan Salim

Introduction: The role of virgin coconut oil in the treatment of allergic rhinitis is controversial. Thus, the aim of the present study is to determine the effects of virgin coconut oil ingestion, in addition to standard medications, on allergic rhinitis. We also studied the side effects of consumption of virgin coconut oil. Methods: Fifty two subjects were equally divided into test and control groups. All subjects received a daily dose of 10mg of loratadine for 28 days. The test group was given 10ml of virgin coconut oil three times a day in addition to loratadine. The symptoms of allergic rhinitis were scored at the beginning and end of the study. Results:, the symptom score were divided into nasal and non-nasal symptom scores. Sneezing score showed a significant difference, however the score was more in control group than test group, indicating that improvement in symptom was more in control group. The rest of the nasal symptom and non-nasal symptom score showed no significant difference between test and control groups. Approximately 58% of the test subjects developed side effects from consumption of virgin coconut oil, mainly gastrointestinal side effects. Conclusion: In the present study, ingestion of virgin coconut oil does not improve the overall and individual symptoms of allergic rhinitis, furthermore it has side effects.


2017 ◽  
Vol 2 (1) ◽  
pp. 46
Author(s):  
Eva Sudarwati ◽  
Shynta Amalia

Abstract This study attempts to see the effect of Think, Talk, and Write strategy on the students’ narrative writing competence. Considering the importance of the use of teaching media, this study tries to integrate Stick Figure as a teaching media in Think, Talk, and Write Strategy. A quasi experimental study was conducted to see the improvement of the students’ narrative writing competence. It involved 42 students who were selected on the basis of convenience sampling and assigned into two groups; experimental and control groups. The statistical analyses of paired sample t-test in experimental group showed that there was significant improvement on the students’ writing competence before (M=5.77, SD= 2.342) and after (M= 11.79, SD= 2.342), t(21)=12.059, p<0.05.Moreover, the result of independent t-test between experimental and control groups showed a significant difference. It can be seen that the mean differences was 3.79545 and the significance value is lower than 0.05, 0.000<0.05.


2021 ◽  
pp. 1-9
Author(s):  
Hiroki Ushirozako ◽  
Tomohiko Hasegawa ◽  
Yu Yamato ◽  
Go Yoshida ◽  
Tatsuya Yasuda ◽  
...  

OBJECTIVESurgical site infection (SSI) after posterior spinal surgery is one of the severe complications that may occur despite administration of prophylactic antibiotics and the use of intraoperative aseptic precautions. The use of intrawound vancomycin powder for SSI prevention is still controversial, with a lack of high-quality and large-scale studies. The purpose of this retrospective study using a propensity score–matched analysis was to clarify whether intrawound vancomycin powder prevents SSI occurrence after spinal surgery.METHODSThe authors analyzed 1261 adult patients who underwent posterior spinal surgery between 2010 and 2018 (mean age 62.3 years; 506 men, 755 women; follow-up period at least 1 year). Baseline and surgical data were assessed. After a preliminary analysis, a propensity score model was established with adjustments for age, sex, type of disease, and previously reported risk factors for SSI. The SSI rates were compared between patients with intrawound vancomycin powder treatment (vancomycin group) and those without (control group).RESULTSIn a preliminary analysis of 1261 unmatched patients (623 patients in the vancomycin group and 638 patients in the control group), there were significant differences between the groups in age (p = 0.041), body mass index (p = 0.013), American Society of Anesthesiologists classification (p < 0.001), malnutrition (p = 0.001), revision status (p < 0.001), use of steroids (p = 0.019), use of anticoagulation (p = 0.033), length of surgery (p = 0.003), estimated blood loss (p < 0.001), and use of instrumentation (p < 0.001). There was no significant difference in SSI rates between the vancomycin and control groups (21 SSIs [3.4%] vs 33 SSIs [5.2%]; OR 0.640, 95% CI 0.368–1.111; p = 0.114). Using a one-to-one propensity score–matched analysis, 444 pairs of patients from the vancomycin and control groups were selected. There was no significant difference in the baseline and surgical data, except for height (p = 0.046), between both groups. The C-statistic for the propensity score model was 0.702. In the score-matched analysis, 12 (2.7%) and 24 (5.4%) patients in the vancomycin and control groups, respectively, developed SSIs (OR 0.486, 95% CI 0.243–0.972; p = 0.041). There were no systemic complications related to the use of vancomycin.CONCLUSIONSThe current study showed that intrawound vancomycin powder was useful in reducing the risk of SSI after posterior spinal surgery by half, without adverse events. Intrawound vancomycin powder use is a safe and effective procedure for SSI prevention.


2020 ◽  
Vol 16 (2) ◽  
pp. 125-133
Author(s):  
Zahra Rezaieyazdi ◽  
Sima Sedighi ◽  
Masoumeh Salari ◽  
Mohammadreza H. Fard ◽  
Mahmoud R. Azarpazhooh ◽  
...  

Background: The relationship between SLE and traditional risk factors for cardiovascular events was evaluated. Methods: The data regarding sixty patients with SLE and 30 healthy controls (age and sex matched) were gathered using SLEDAI forms. Venous blood (10mL) from all the participants was examined for hs-CRP, homocysteine, VCAM1, CBC, anti-DNA antibody, C3, C4, low-density lipoprotein (LDL), cholesterol, FBS and triglyceride. : The IMT of carotid arteries was determined bilaterally by ultrasound. Other measurements included insulin levels via Elisa (Linco/Millipore Corp) and the HOMA-IR index for insulin resistance. Results: The mean age (in years) in the test and control groups was 28.8±10.3 (18-52) and 33.8±9.13 (18-48), respectively. Results: The mean age (in years) in the test and control groups was 28.8±10.3 (18-52) and 33.8±9.13 (18-48), respectively. : The average IMT in the test group was directly related to serum levels of VCAM1 (p<0.001), homocysteine (p<0.001), cholesterol (p<0.009), LDL (p<0.001), TG (p<0.001), and FPG (p=0.004). The association between other risk factors, insulin resistance, carotid IMT and SLEDAI, was nonexistent. Mean insulin and insulin resistance levels in all the participants were 0.43±2.06 µU/mL and 0.09±0.44, respectively. There was no significant difference between the test and control groups regarding serum insulin and insulin resistance levels (p=0.42 and p=0.9, respectively). None of the risk factors, such as hsCRP, VCAM1, or homocysteine, were shown to be related to insulin resistance (p=0.6, p=0.6, p=0.09, respectively). Conclusion:: Our findings did not show an increase in the prevalence of atherosclerosis in patients with SLE. There was no association between IMT and insulin resistance. However, the former was associated with FPG, total cholesterol, LDL, TG, homocystein and VCAM1.


Author(s):  
Reza Mohebbati ◽  
Yasamin Kamkar-De ◽  
Mohammad Naser Shafei

Objective: Our previous studies showed the antihypertensive effect of Ribes khorassanicum (R. khorassanicum), a medicinal herb growing in the North Khorasan Province of Iran. For further evaluation, the present study investigated the effect of n-hexane (HX), ethyl acetate (EA), and aqueous (AQ) fractions of hydroalcoholic R. khorassanicum extract on cardiovascular responses in angiotensin II (AngII) and NG-nitro-L-arginine methyl ester (L-NAME) hypertensive rats. Methods: Wistar rats were randomly divided into 11 groups (n=5): 1) control, 2) AngII (50 ng/kg, i.v), 3) AngII + losartan (10 mg/kg, i.p), 4) L-NAME (10 mg/kg, i.v), 5) L-NAME+ sodium nitroprusside (SNP) (50 mg/kg, i.p), 6,7,8) one dose of each fraction of R. khorassanicum (AQ/EA/HX (50 mg/kg, i.p)) +AngII, and 9,10,11) one dose of each fraction of R. khorassanicum (AQ/EA/HX (50 mg/kg, i.p)) + L-NAME. Treated rats received three fractions 30 min before the injection of L-NAME and AngII in separate groups. The cardiovascular parameters were recorded by the Power Lab instrument via an angiocath inserted into the femoral artery. The peak changes (∆) of mean arterial pressure (MAP), systolic blood pressure (SBP), and heart rate (HR) in treated groups were compared with those of the hypertensive and control groups. Result: AngII and L-NAME significantly increased ∆MAP and ∆SBP and attenuated by pretreatment of LOS and SNP, respectively. Pretreatment with polar (AQ) and semipolar (EA) fractions of R. khorassanicum reduced the peak changes of MAP and SBP in both AngII and L-NAME-treated groups. Only the fraction of the herb attenuated the HR increased in the L-NAME group. The HR in other groups did not demonstrate any significant difference. Conclusion: All fractions of R. khorassanicum have an antihypertensive effect. However, the effect of polar fractions is more salient. It is also conceivable that the antihypertensive effect of fractions is mostly mediated by the inhibition of AngII.


2021 ◽  
pp. 097275312110000
Author(s):  
Madhava Sai Sivapuram ◽  
Vinod Srivastava ◽  
Navneet Kaur ◽  
Akshay Anand ◽  
Raghuram Nagarathna ◽  
...  

Background: Type 2 diabetes needs a better understanding of etiological factors and management strategies based on lifestyle and constitutional factors, given its high association rate with many cardiovascular, neurological disorders, and COVID-19 infection. Purpose: The present study was undertaken to investigate the effect of Diabetes-specific integrated Yoga lifestyle Protocol (DYP) on glycemic control and lipid profiles of diabetic adults. Along with the DYP intervention, the individuals residing in Chandigarh and Panchkula union territories in the northern part of India were assessed for Ayurveda-based body–mind constitutional type. Ayurveda describes body–mind constitution as “ prakriti,” which has been discussed from two angles, namely physiological and psychological as body and mind are correlated. Methods: Cluster sampling of waitlist control study subjects was used as the sampling method for the study. A total of 1,215 registered subjects (81 diabetic) responded in randomly selected clusters in Chandigarh and Panchkula. Ayurveda physicians did Ayurveda body–mind constitutional assessment called prakriti assessment (physiological body–mind constitution assessment) in 35 participants (23 diabetic, 12 prediabetic) as a part of the study. Results: A group of 50 subjects was randomly selected for yoga intervention out of 81 diabetes mellitus adults, and 31 subjects were enrolled as waitlist controls. A significant decrease in the glycosylated hemoglobin levels from 8.49 ± 1.94% to 7.97 ± 2.20% in the intervention group was noticed. The lipid profiles of the DYP intervention and control groups were monitored. Three-month follow-up results of lipid profile diagnostic tests in intervention and control groups showed a significant difference between the two groups ( P < 0.05). Most diabetic and prediabetic individuals were found to have pitta dosha ( pitta controls all heat, metabolism, and transformation in the mind and body) as dominant constitution type. Conclusion: The study results demonstrated significant positive effects of yoga in diabetic individuals. This study has indicated the evidence for the safety and efficacy of the validated DYP for community-level interventions to prevent maladies like brain damage and stroke.


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