scholarly journals Association of DRD4 exon III and 5-HTTLPR VNTR genetic polymorphisms with psychiatric symptoms in hemodialysis patients

PLoS ONE ◽  
2021 ◽  
Vol 16 (3) ◽  
pp. e0249284
Author(s):  
Osama Y. Alshogran ◽  
Laith N. Al-Eitan ◽  
Shoroq M. Altawalbeh ◽  
Hatem A. Aman

Mental illness is prevalent among hemodialysis (HD) patients. Given that the dopaminergic and serotonergic pathways are involved in the etiology of psychiatric disease, this study evaluated the genetic association of dopamine D4 receptor (DRD4) and serotonin transporter (SLC6A4) genes with psychiatric symptom susceptibility among HD patients. Hospital Anxiety and Depression Scale (HADS) was used to assess anxiety and depressive symptoms among patients (n = 265). Genetic polymorphisms of DRD4 (48 bp VNTR) and SLC6A4 (5-HTTLPR VNTR and rs25531) were examined using a conventional polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique, as appropriate. Significant differences were observed in the distribution of 5-HTTLPR genotypes, SLC6A4 tri-allelic-phased genotype, and DRD4-Exon III VNTR genotypes/alleles between patients with anxiety symptoms versus those with normal/borderline conditions (p<0.05). Binary logistic regression analyses showed that the heterozygous 4,5 VNTR genotype of DRD4 was associated with a higher risk of anxiety symptoms after adjusting for other covariates (odds ratio = 4.25, p = 0.028). None of the studied polymorphisms was linked to depression in HD patients. Collectively, the current findings provide genetic clues to psychopathology in HD patients and suggest that the DRD4 exon III VNTR polymorphism is involved in the etiology of anxiety in this patient population.

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Fei Wang ◽  
Yi Cao ◽  
Fang Li ◽  
Jianlin Shan ◽  
Tianlin Wen

Several studies report that theOPGis an important candidate gene in the pathogenesis of osteoporosis. This study aimed to detect the potential association ofOPGgene polymorphisms with osteoporosis in postmenopausal women. We recruited 928 subjects containing 463 with primary postmenopausal osteoporosis and 465 healthy volunteers as controls. The BMD of neck hip, lumbar spine (L2–4), and total hip were assessed by dual-energy X-ray absorptiometry (DEXA). Through the created restriction site-polymerase chain reaction (CRS-PCR), PCR-restriction fragment length polymorphism (PCR-RFLP), and DNA sequencing methods, the g.18873C>T and g.27522G>A have been investigated. As for g.18873C>T, our data indicated that subjects with CC genotype have significantly higher BMD value than those of CT and TT genotypes (allPvalues < 0.05). As for g.27522G>A, the BMD values of subjects with GG genotype were significantly higher than those of GA and AA genotypes (allPvalues < 0.05). Our findings suggest that theOPGg.18873C>T and g.27522G>A genetic polymorphisms are associated with the decreased risk for osteoporosis in Chinese postmenopausal women.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Fabíola Silva Alves ◽  
Lilyane Amorim Xabregas ◽  
Marlon Wendell Athaydes Kerr ◽  
Gláucia Lima Souza ◽  
Daniele Sá Pereira ◽  
...  

AbstractThe immune system plays an important role in the control of cancer development. To investigate the possible association of inflammasome genes to childhood leukemia we performed a case-control study with 158 patients with acute lymphoblastic leukemia and 192 healthy individuals. The IL1B and IL18 genetic polymorphisms were genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and NLRP1, NLRP3 and P2RX7 were genotyped using Real Time quantitative PCR (qPCR). The IL1B C/T rs19644 genotype was associated with the risk of developing ALL (C/C vs. C/T + T/T OR: 2.48 [95% CI: 1.26–4.88, p = 0.006]; C/C vs C/T OR: 2.74 [95% CI: 1.37–5.51, p = 0.003]) and the NLRP1 A/T rs12150220 (OR: 0.37 [95% CI: 0.16–0.87, p = 0.023]) was associated with protection against infectious comorbidities. It was not found association between NLRP3 and P2RX7 polymorphisms and acute lymphoblastic leukemia in our study. Our results suggest that the inflammasome single-variant polymorphisms (SNVs) may play a role in the development and prognostic of childhood leukemia. However, this finds requires further study within a larger population in order to prove it.


Author(s):  
Von Ralph Dane M. Herbuela ◽  
Ferdinand S. de Guzman ◽  
Girly D. Sobrepeña ◽  
Andrew Benedict F. Claudio ◽  
Angelica Cecilia V. Tomas ◽  
...  

Background: Psychiatric symptoms have been reported in adult patients with dengue fever (DF); however, information on pediatric patients remains inadequate. We sought to identify the prevalence and predictors of depressive and anxiety symptoms and identify other psychiatric symptoms among pediatric patients with DF. This case-control study involved pediatric in-patients (n = 225) who had clinical or serologic-confirmed DF and healthy school-based controls (n = 260). Participants completed the Revised Child Anxiety and Depression Scale (RCADS). Results: The prevalence of depressive (13.3%) and anxiety (34.2%) symptoms among pediatric patients with DF was significantly (p < 0.001) higher than that among controls (3.5% and 16.2%, respectively). Multiple linear regression analysis found that age, family history of DF, ≤2 days of hospitalization, myalgia, and arthralgia were predictors of increased depressive and anxiety symptoms among the patients. Further, 26.7% of pediatric patients reported irritability, agitation, visual hallucinations, and aggressiveness. Conclusion: Pediatric patients present depressive and anxiety symptoms whose levels were associated with social and clinical factors. However, whether these symptoms are present only during the infection or may still persist after recovery or are brought by children’s adverse reactions to hospitalization are unknown, and thus, further studies are needed.


2021 ◽  
Vol 28 (1) ◽  
pp. 4
Author(s):  
Adelė Butėnaitė ◽  
Robertas Strumila ◽  
Aistė Lengvenytė ◽  
Indrė Kotryna Pakutkaitė ◽  
Aušra Morkūnienė ◽  
...  

Background: In Huntington’s disease psychiatric symptoms may manifest prior to motor dysfunction. Such symptoms negatively impact people’s quality of life and can worsen the course of the primary disease. The aim of the present study was to assess and compare depression, anxiety and hopelessness rates in individuals with and without an abnormal expansion of CAG repeats in the huntingtin (HTT) gene and healthy controls.Materials and methods: Study involved 31 individuals referred for genetic testing for Huntington’s disease and a control group of 41. Depressive and anxiety symptoms were assessed using Beck Hopelessness Scale (BHS) and Hospital Anxiety and Depression Scale (HADS). Results between groups were compared using the Mann–Whitney U test. Two-sided Bonferroni corrected p-value was set at ≤0.017.Results: Individuals with HTT gene mutation (“gene mutation positive”, GMP) (N=20) scored higher on the HADS depression subscale (5.90 ± 4.52 vs 1.36 ± 1.91; p ≤ 0.017) than those without HTT gene mutation (“gene mutation negative”, GMN) (N=11). GMP and control groups scored higher than the GMN group on the BHS (5.65 ± 3.91 vs 2.09 ± 1.64 and 5.27 ± 4.11 vs 2.09 ± 1.64, respectively; p ≤ 0.017). No differences in anxiety levels were found.Conclusions: Depressive symptoms and hopelessness were more prevalent in individuals with HTT gene mutation than in individuals who were tested but had no said mutation. Such results emphasise the importance of timely diagnosis and treatment of psychiatric comorbidities in individuals affected by Huntington’s disease.


2020 ◽  
Author(s):  
Fadime Kelesoglu ◽  
Hulya Guveli

Abstract Objective: The aim of this study is to determine the levels of perceived stigma and social support and presence of depressive and anxiety symptoms in patients with tuberculosis and to investigate the association of perceived stigma and depression with demographic and disease related factors.Methods: This study included patients older than 18 years of age with tuberculosis. The hospital anxiety depression scale (HADS), stigma of tuberculosis scale (STS), and multidimensional scale of perceived social support (MSPSS) were applied to the participants. Univariate and multivariate analyses were performed to define correlates of depression and perceived stigma.Results: A total of 204 patients were included. The risk of anxiety and depression were 25% and 36.8%, respectively. Multivariate binary logistic regression analyses suggested that higher HADS-anxiety scores and lower MSPSS scores were associated with a depressive HADS score and that a lower BMI, higher HADS-anxiety score, and higher HADS-depression score were associated with high levels of perceived stigma.Conclusions: The rates of depression, stigmatization, and anxiety were high in these patients. Anxiety symptoms were positively and social support was inversely associated with depressive symptoms. A lower BMI and higher depression and anxiety scores were independently associated with high levels of perceived stigma.


Author(s):  
Soloveva Yu.A. ◽  
Borisova N.V.

Polymorphisms of different genes can predispose people to various diseases. They can influence the body's physiological response to exogenous risk factors. Polymorphisms of the endothelial dysfunction genes NOS3 and CYBA contribute to the development of socially significant diseases, such as acute coronary syndrome, stroke, as well as diseases accompanied by fibrotic changes (cirrhosis of the liver, pulmonary fibrosis, etc.). Therefore, the study of these genes in the Yakut population seems relevant. The present study involved 124 healthy volunteers, their ethnicity is Yakuts (including Yakuts in the third generation, living in the Republic of Sakha (Yakutia)). Genetic analysis of polymorphisms was performed by the method of polymerase chain reaction of restriction fragment length polymorphisms (PCR-RFLP). The study found that healthy Yakuts have GG homozygote of rs1799983 of the NOS3 gene in 83.87%, GT - 15.32%, TT - 0.81%. The frequency of the G allele was 91.53%, the T allele - 8.47%. The study found that healthy Yakuts have CC homozygote of rs4673 of the CYBA gene in 75.0%, CT - 21.77%, TT - 3.23%. The frequency of C allele was 91.44%, T - 8.56%. These results are consistent with the literature data. Thus, the research of the polymorphism rs1799983 of the NOS3 gene and rs4673 of the CYBA gene in various ethnic groups could have encouraging prospects in the personalized medicine for predicting pathological conditions associated with endothelial dysfunction: liver fibrosis, cardiovascular diseases, obstetric and gynecological pathologies, dysfunctions of various organs and systems.


2020 ◽  
Vol 16 ◽  
Author(s):  
Salman Khazaei ◽  
Erfan Ayubi ◽  
Saeid Bashirian ◽  
Ronak Hamzehei ◽  
Ensiyeh Jenabi

Background: The relationship between gestational diabetes and postpartum depression (PPD) is poorly understood and seldom studied. Objective: In an effort to explore this issue, the present study investigated the relationship between gestational diabetes and PPD. Methods: The present cross-sectional study was performed with 342 women who were referred to four urban health centers of Hamadan city, west of Iran. We used convenience sampling as a method to recruit women in each health center. We used a researcher-made checklist for gathering data on socio-demographic characteristics and potential risk factors of PPD. The Persian validated version of the Edinburgh Postnatal Depression Scale (EPDS) was used to assess PPD. Univariate and multivariable binary logistic regression was applied to estimate the odds ratio (OR) (95% confidence interval [CI]). Results: Gestational diabetes was identified as the most important risk factor for PPD with OR (95% CI) of 2.19 (1.11, 4.31); P-value=0.02 after adjusting for other variables. Moreover, the adjusted odds ratio showed that PPD among lesseducated women (primary school) was 3.5 times higher compared to women with a university education (OR=3.54, 95% CI: 1.27, 9.84; P-value=0.01). Conclusion: Our findings suggested that PPD is more likely among women with gestational diabetes and those who were less educated. Interventional and educational activities for reducing the risk of PPD can be targeted for use with this population.


2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Lucie Dlouhá ◽  
Věra Adámková ◽  
Lenka Šedová ◽  
Věra Olišarová ◽  
Jaroslav A. Hubáček ◽  
...  

AbstractObjectivesCytochromes P450 play a role in human drugs metabolic pathways and their genes are among the most variable in humans. The aim of this study was to analyze genotype frequencies of five common polymorphisms of cytochromes P450 in Roma/Gypsy and Czech (non-Roma) population samples with Czech origin.MethodsRoma/Gypsy (n=302) and Czech subjects (n=298) were genotyped for CYP1A2 (rs762551), CYP2A6 (rs4105144), CYP2B6 (rs3745274) and CYP2D6 (rs3892097; rs1065852) polymorphisms using PCR-RFLP or Taqman assay.ResultsWe found significant allelic/genotype differences between ethnics in three genes. For rs3745274 polymorphism, there was increased frequency of T allele carriers in Roma in comparison with Czech population (53.1 vs. 43.7%; p=0.02). For rs4105144 (CYP2A6) there was higher frequency of T allele carriers in Roma in comparison with Czech population (68.7 vs. 49.8%; p<0.0001). For rs3892097 (CYP2D6) there was more carriers of the A allele between Roma in comparison with Czech population (39.2 vs. 38.2%; p=0.048). Genotype/allelic frequencies of CYP2D6 (rs1065852) and CYP1A2 (rs762551) variants did not significantly differ between the ethnics.ConclusionsThere were significant differences in allelic/genotype frequencies of some, but not all cytochromes P450 polymorphisms between the Czech Roma/Gypsies and Czech non-Roma subjects.


Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 529
Author(s):  
Silvia Selene Moreno-Guerrero ◽  
Arturo Ramírez-Pacheco ◽  
Luz María Rocha-Ramírez ◽  
Gabriela Hernández-Pliego ◽  
Pilar Eguía-Aguilar ◽  
...  

There is evidence that high circulating levels of IL-6 and IL-8 are markers of a poor prognosis in various types of cancer, including NB. The participation of these cytokines in the tumor microenvironment has been described to promote progression and metastasis. Our objective was to evaluate the prognostic role of genetic polymorphisms and serum levels of IL-6 and IL-8 in a cohort of Mexican pediatric patients with NB. The detection of the SNPs rs1800795 IL-6 and rs4073 and rs2227306 IL-8 was carried out by PCR-RFLP and the levels of cytokines were determined by the ELISA method. We found elevated circulating levels of IL-8 and IL-6 in NB patients compared to the control group. The genotype frequencies of the rs1800795 IL-6 and rs4073 IL-8 variants were different between the patients with NB and the control group. Likewise, the survival analysis showed that the GG genotypes of rs1800795 IL-6 (p = 0.014) and AA genotypes of rs4073 IL-8 (p = 0.002), as well as high levels of IL-6 (p = 0.009) and IL-8 (p = 0.046), were associated with lower overall survival. We confirmed the impact on an adverse prognosis in a multivariate model. This study suggests that the SNPs rs1800795 IL-6 and rs4073 IL-8 and their serum levels could be promising biomarkers of a poor prognosis, associated with overall survival, metastasis, and a high risk in Mexican children with NB.


2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Magnus Johansson ◽  
Markus Jansson-Fröjmark ◽  
Annika Norell-Clarke ◽  
Steven J. Linton

Abstract Background The aim of this investigation was to examine the longitudinal association between change in insomnia status and the development of anxiety and depression in the general population. Methods A survey was mailed to 5000 randomly selected individuals (aged 18–70 years) in two Swedish counties. After 6 months, a follow-up survey was sent to those (n = 2333) who answered the first questionnaire. The follow-up survey was completed by 1887 individuals (80.9%). The survey consisted of questions indexing insomnia symptomatology, socio-demographic parameters, and the Hospital Anxiety and Depression Scale. Change in insomnia status was assessed by determining insomnia at the two time-points and then calculating a change index reflecting incidence (from non-insomnia to insomnia), remission (from insomnia to non-insomnia), or status quo (no change). Multivariate binary logistic regression analyses were used to examine the aim. Results Incident insomnia was significantly associated with an increased risk for the development of new cases of both anxiety (OR = 0.32, p < .05) and depression (OR = 0.43, p < .05) 6 months later. Incident insomnia emerged also as significantly associated with an elevated risk for the persistence of depression (OR = 0.30, p < .05), but not for anxiety. Conclusions This study extends previous research in that incidence in insomnia was shown to independently increase the risk for the development of anxiety and depression as well as for the maintenance of depression. The findings imply that insomnia may be viewed as a dynamic risk factor for anxiety and depression, which might have implications for preventative work.


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