scholarly journals Molecular genetic case-control women investigation from the first Brazilian high-risk study on functional psychosis

2008 ◽  
Vol 30 (4) ◽  
pp. 341-345 ◽  
Author(s):  
Renata Krelling ◽  
Quirino Cordeiro ◽  
Elisabete Miracca ◽  
Elisa Kijner Gutt ◽  
Sandra Petresco ◽  
...  

OBJECTIVE: Data from epidemiological studies have demonstrated that genetics is an important risk factor for psychosis. The present study is part of a larger project, pioneer in Brazil, which has been conducted by other researchers who intend to follow a high-risk population (children) for the development of schizophrenia and bipolar disorder. In this first phase of the project, the objective was to investigate the distribution of four candidate genetic polymorphisms for functional psychosis (Ser9Gly DRD3, 5HTTLPR, the VNTR 3'-UTR SLC6A3 and Val66Met BDNF) in a case-control sample. METHOD: A total of 105 women (58 with schizophrenia and 47 with bipolar disorder) and 62 gender-matched controls were investigated. RESULTS: Allele and genotype distributions of all identified functional polymorphisms did not differ statistically between cases and controls. CONCLUSIONS: These results suggest that the investigated polymorphisms were not related to susceptibility to functional psychoses in our Brazilian sample. These findings need to be validated in larger and independent studies.

2007 ◽  
Vol 65 (1) ◽  
pp. 11-14 ◽  
Author(s):  
Vivian Bertola ◽  
Quirino Cordeiro ◽  
Stevin Zung ◽  
Elisabete Cristina Miracca ◽  
Homero Vallada

Data from epidemiological studies have demonstrated that genetics is an important risk factor for schizophrenia. Disturbances of serotonergic brain pathways have been implicated in the pathophysiology of schizophrenia. Some studies have suggested that the efficacy of atypical antipsychotics on schizophrenia treatment may be related to the serotonin 2A receptor (5-HT2A), and that serotonergic drugs may induce psychotic symptoms. Thus, the aim of this study was to investigate the association between the C516T polymorphism and schizophrenia in a Brazilian population composed by 246 patients and 315 healthy matched controls in a case-control approach. No statistically differences were observed in allelic (chi2=1.77, 1d.f., p=0.18) or genotypic (chi2=1.69, 2d.f., p=0.42) distributions between cases and controls. The results suggest that the C516T polymorphism of the 5-HT2A receptor gene is not related to the susceptibility for schizophrenia in our Brazilian sample.


2016 ◽  
Vol 126 (8) ◽  
pp. 1823-1830 ◽  
Author(s):  
Rebecca J. Kamil ◽  
Elina Jerschow ◽  
Patricia A. Loftus ◽  
Melin Tan ◽  
Marvin P. Fried ◽  
...  

PLoS ONE ◽  
2020 ◽  
Vol 15 (11) ◽  
pp. e0240988
Author(s):  
Rebecca S. B. Fischer ◽  
Jason M. Unrine ◽  
Chandan Vangala ◽  
Wayne T. Sanderson ◽  
Sreedhar Mandayam ◽  
...  

Background Although there are several hypothesized etiologies of Mesoamerican Nephropathy (MeN), evidence has not yet pointed to the underlying cause. Exposure to various trace elements can cause the clinical features observed in MeN. Methods and findings We measured 15 trace elements, including heavy metals, in renal case-patients (n = 18) and healthy controls (n = 36) in a MeN high-risk region of Nicaragua. Toenails clippings from study participants were analyzed using inductively coupled plasma mass spectrometry. A case-control analysis was performed, and concentrations were also analyzed over participant characteristics and clinical parameters. Nickel (Ni) concentrations were significantly higher in toenails from cases (1.554 mg/kg [0.176–42.647]) than controls (0.208 mg/kg [0.055–51.235]; p<0.001). Ni concentrations correlated positively with serum creatinine levels (p = 0.001) and negatively with eGFR (p = 0.001). Greater Ni exposure was also associated with higher leukocyte (p = 0.001) and neutrophil (p = 0.003) counts, fewer lymphocytes (p = 0.003), and lower hemoglobin (p = 0.004) and hematocrit (p = 0.011). Conclusions Low-dose, chronic environmental exposure to Ni is a possible health risk in this setting. Ni intoxication and resulting systemic and renal effects could explain the clinical signs observed during early MeN. This study provides compelling evidence for a role of Ni in the acute renal impairment observed in this MeN high-risk population. Additional work to assess exposure levels in a larger and heterogeneous population, identify environmental sources of Ni and exposure pathways, and evaluate the link between Ni and MeN pathogenesis are urgently needed.


2010 ◽  
Vol 153B (7) ◽  
pp. 1276-1282 ◽  
Author(s):  
Martin Tesli ◽  
Lavinia Athanasiu ◽  
Morten Mattingsdal ◽  
Anna K. Kähler ◽  
Omar Gustafsson ◽  
...  

2008 ◽  
Vol 42 (1) ◽  
pp. 35-40 ◽  
Author(s):  
Chi-Un Pae ◽  
Hye-Sook Yu ◽  
Daniela Amann ◽  
Jung-Jin Kim ◽  
Chang-Uk Lee ◽  
...  

2009 ◽  
Vol 19 (5) ◽  
pp. 269-272 ◽  
Author(s):  
Martin Tesli ◽  
Anna K. Kähler ◽  
Bettina Kulle Andreassen ◽  
Thomas Werge ◽  
Ole Mors ◽  
...  

2007 ◽  
Vol 17 (2) ◽  
pp. 127
Author(s):  
Frederike Schirmbeck ◽  
Alexander Georgi ◽  
Jana Strohmaier ◽  
Christine Schmael ◽  
Carolin Knorr ◽  
...  

2009 ◽  
Vol 58 (6) ◽  
pp. 760-764 ◽  
Author(s):  
Fruzsina Petrovay ◽  
Eszter Balla ◽  
István Németh ◽  
Éva Gönczöl

The distribution of different Chlamydia trachomatis serovars in Hungary has not been reported previously. The objective of this study was to determine the distribution and prevalence of C. trachomatis serovars in a high-risk population by genotyping. The endocervical specimens of 484 female sex workers (FSWs) were screened for C. trachomatis by plasmid PCR. Genotyping was performed in all C. trachomatis-positive samples by PCR-based RFLP analysis of the omp1 gene. A total of 32 specimens (6.6 %) were positive for C. trachomatis. Age was an important risk factor for C. trachomatis infection in FSWs. The highest prevalence was detected in women under the age of 20 (18.8 %). All positive specimens were successfully genotyped and seven serovars were identified. The most prevalent was serovar D (34.4 %), followed by E (21.9 %), F (18.8 %), G (9.4 %), J (9.4 %), H (3.1 %) and I (3.1 %). A heterogeneous distribution of C. trachomatis serovars was observed in the study group, where the most common serovars were D, E and F comprising 75 % of the positive samples. This PCR-based RFLP method could be used in epidemiological studies on the prevalence of C. trachomatis infection to provide more information and to compare the serovar distribution among different cohorts.


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