Association of Tef polymorphism with depression in Parkinson disease.
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ABSTRACT:
SUBMITTER: Hua P
PROVIDER: S-EPMC6089252 | biostudies-literature | 2012 Nov
REPOSITORIES: biostudies-literature
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Association of Tef polymorphism with depression in Parkinson disease.
Hua Ping P Liu Weiguo W Kuo Sheng-Han SH Zhao Yanyan Y Chen Ling L Zhang Ning N Wang Chun C Guo Suwan S Wang Li L Xiao Hong H Kwan Justin Y JY Wu Tianxia T
Movement disorders : official journal of the Movement Disorder Society 20121108 13
<h4>Background</h4>Circadian rhythm disturbance has been implicated in depression, and polymorphisms of circadian genes Cry1, Cry2, and Tef are associated with depression. However, the relationship between these genes and depression symptoms in Parkinson's disease (PD) has not been established.<h4>Methods</h4>Four hundred eight subjects with PD participated in this study. Demographics, UPDRS, Mini-Mental Status Examination (MMSE), and Hamilton Rating Scale for Depression (HAMD) were obtained in ...[more]
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Project description:ImportanceCaregivers are integral to Parkinson disease (PD) care, but little information exists regarding how caregivers impact patient outcomes.ObjectiveTo assess the association between caregivers reporting depression symptoms and patient quality of life (QOL), emergency department (ED) visits, and hospitalizations.Design, setting, and participantsThis retrospective cohort study was conducted at 15 Parkinson's Foundation Centers of Excellence within the US. The Parkinson's Foundation Parkinson Outcomes Project registry was used to collect baseline data from January 1, 2016, to December 31, 2018, with subsequent annual study visits through July 31, 2020. Data were analyzed from August 5, 2020, to June 9, 2023. A convenience sample of 454 patients with PD and their caregivers was recruited during routine clinical visits with movement disorder specialists. Patients with a physician diagnosis of idiopathic PD who lived at home and had 1 or more follow-up study visits were included.ExposureCaregiver depression symptoms using the Center for Epidemiologic Studies Depression Scale.Main outcomes and measuresPatient health-related QOL (measured by the 39-item Parkinson Disease Questionnaire), number of annual ED visits, and number of annual hospitalizations were measured. The independent association between caregivers reporting depression symptoms and patient outcomes was assessed using linear mixed-effects and Poisson regression models. The a priori hypotheses were that a greater number of depression symptoms reported via the Center for Epidemiologic Studies Depression Scale would be associated with worse patient QOL and a greater number of ED visits and hospitalizations.ResultsAmong 454 patient-caregiver dyads (patients: mean [SD] age, 67.3 [8.4] years; 320 men [70.5%]; caregivers: mean [SD] age, 65.9 [8.7] years; 326 women [71.8%]), the mean (SD) follow-up was 2.0 (1.4) study visits. Greater depression symptoms among caregivers were associated with worse patient QOL as measured by the Parkinson Disease Questionnaire (mean [SD] score, 33.78 [17.71], on a scale of 0-100, with higher scores indicating worse QOL, among patients with caregivers who had depression symptoms vs 24.50 [14.19] among patients with caregivers who did not have depression symptoms; β = 0.43; 95% CI, 0.28-0.58; P < .001) and more annual ED visits (β = 0.02; 95% CI, 0 to 0.04; P = .03) but not more hospitalizations (β = 0.02; 95% CI, -0.01 to 0.03; P = .10).Conclusions and relevanceIn this cohort study, patients with PD who had caregivers at higher risk of depression were more likely to have worse QOL and higher ED use than patients who had caregivers not at higher risk of depression. Additional caregiving resources and interventions to reduce caregiver depression symptoms could potentially improve patient outcomes.
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Project description:The lysosomal enzyme glucocerebrosidase (GCase), encoded by GBA, has an important role in Parkinson disease (PD). GBA mutation carriers have an increased risk for PD, earlier age at onset, faster progression, and various nonmotor symptoms including cognitive decline, REM sleep behavior disorder, hyposmia, and autonomic dysfunction.(1) Furthermore, GCase enzymatic activity is reduced in the peripheral blood(2) and brain(3) of noncarrier, sporadic PD patients. Biallelic GBA mutations, which have been classified as "severe" or "mild," may cause Gaucher disease (GD), a lysosomal storage disorder. Mild mutations may lead to GD type 1, and 2 severe mutations result in neuronopathic GD (type 2 and type 3).(4) There are 2 GBA variants, p.E326K and p.T369M, which do not cause GD in homozygous carriers, but may modify GCase activity and GD phenotype. It is now clear that p.E326K is a risk factor for PD,(5) but whether p.T369M is associated with PD is still controversial. In some studies, the p.T369M substitution was associated with PD,(6) while in others it had similar or increased frequency in controls. Of interest, it was recently demonstrated that the GBA p.T369M substitution was associated with reduced enzymatic activity in patients with PD and controls compared with that in noncarriers (7.64 vs 11.93 ?mol/L/h, p < 0.001).(2) Of interest, it was even lower than the average enzymatic activity of the p.E326K substitution, which was 9.81 ?mol/L/h. Because clinical trials on GBA-associated PD are ongoing, and because treatment specifically targeting GBA is likely to be available in the future, it is important to determine whether the GBA p.T369M substitution is associated with PD.
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Project description:IntroductionParkinson 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.MethodsThe 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.ResultsA 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).ConclusionThe 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.
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Project description:BackgroundDRD2 TaqIA polymorphism may be associated with an increased risk of developing Parkinson disease (PD). However, the individual study's results are still inconsistent.MethodsA meta-analysis of 4232 cases and 4774 controls from 14 separate studies were performed to explore the possible relationship between the DRD2 TaqIA gene polymorphism and PD. Pooled odds ratios (ORs) for the association and the corresponding 95% confidence intervals (CIs) were evaluated by a fixed-effect model.ResultsThe pooled results revealed a significant association between DRD2 gene TaqIA polymorphism under recessive genetic model (OR: 0.91, 95% CI:0.83,0.99, P = .031) and additive genetic models (OR:0.93,95%CI:0.87,0.99, P = .032), but not associated with PD susceptibility under other genetic models in the whole population. Moreover, subgroups based on ethnicity and genotyping methods showed this association in the Caucasian subgroup under recessive genetic model (OR: 0.85, 95% CI:0.76,0.95, P = .003) and additive genetic models (OR:0.87,95%CI:0.79,0.96, P = .004) were existed. Besides, no significant association was detected under 6 genetic models in the Asian populations and PCR-RFLP subgroup.ConclusionsThe current meta-analysis suggested that a significant association between DRD2 TaqIA polymorphism and PD under the recessive genetic mode, and additive genetic models, especially in Caucasians.
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Project description:Parkinson disease (PD) is heterogeneous in symptom manifestation and rate of progression. Identifying factors that influence disease progression could provide mechanistic insight, improve prognostic accuracy, and elucidate novel therapeutic targets.To determine whether GBA mutations and the E326K polymorphism modify PD symptom progression.The entire GBA coding region was screened for mutations and E326K in 740 patients with PD enrolled at 7 sites from the PD Cognitive Genetics Consortium. Detailed longitudinal motor and cognitive assessments were performed with patients in the on state.Linear regression was used to test for an association between GBA genotype and motor progression, with the Movement Disorder Society-sponsored version of the Unified Parkinson's Disease Rating Scale Part III (MDS-UPDRS III) score at the last assessment as the outcome and GBA genotype as the independent variable, with adjustment for levodopa equivalent dose, sex, age, disease duration, MDS-UPDRS III score at the first assessment, duration of follow-up, and site. Similar methods were used to examine the association between genotype and tremor and postural instability and gait difficulty (PIGD) scores. To examine the effect of GBA genotype on cognitive progression, patients were classified into those with conversion to mild cognitive impairment or dementia during the study (progression) and those without progression. The association between GBA genotype and progression status was then tested using logistic regression, adjusting for sex, age, disease duration, duration of follow-up, years of education, and site.Of the total sample of 733 patients who underwent successful genotyping, 226 (30.8%) were women and 507 (69.2%) were men (mean [SD] age, 68.1 [8.8] years). The mean (SD) duration of follow-up was 3.0 (1.7) years. GBA mutations (??=?4.65; 95% CI, 1.72-7.58; P?=?.002), E326K (??=?3.42; 95% CI, 0.66-6.17; P?=?.02), and GBA variants combined as a single group (??=?4.01; 95% CI, 1.95-6.07; P?=?1.5?×?10-4) were associated with a more rapid decline in MDS-UPDRS III score. Combined GBA variants (??=?0.38; 95% CI, 0.23-0.53; P?=?.01) and E326K (??=?0.64; 95% CI, 0.43-0.86; P?=?.002) were associated with faster progression in PIGD scores, but not in tremor scores. A significantly higher proportion of E326K carriers (10 of 21 [47.6%]; P?=?.01) and GBA variant carriers (15 of 39 [38.5%]; P?=?.04) progressed to mild cognitive impairment or dementia.GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor. Thus, GBA variants influence the heterogeneity in symptom progression observed in PD.
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Project description: Not available
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Project description:ObjectiveTo construct a model for depression in Parkinson disease (PD) and to study the relative contribution of PD-specific and nonspecific risk factors to this model.MethodsStructural equation modeling of direct and indirect associations of risk factors with the latent depression outcome using a cross-sectional dataset of 342 patients with PD.ResultsA model with acceptable fit was generated that explained 41% of the variance in depression. In the final model, 3 PD-specific variables (increased disease duration, more severe motor symptoms, the use of levodopa) and 6 nonspecific variables (female sex, history of anxiety and/or depression, family history of depression, worse functioning on activities of daily living, and worse cognitive status) were maintained and significantly associated with depression. Nonspecific risk factors had a 3-times-higher influence in the model than PD-specific risk factors.ConclusionIn this cross-sectional study, we showed that nonspecific factors may be more prominent markers of depression than PD-specific factors. Accordingly, research on depression in PD should focus not only on factors associated with or specific for PD, but should also examine a wider scope of factors including general risk factors for depression, not specific for PD.
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Project description:OBJECTIVE:Although the relationship between apolipoprotein E (ApoE) gene polymorphisms and the risk of Parkinson disease (PD) has been established, the results were inconsistent and inconclusive. METHODS:A comprehensive search examining the association between APOE polymorphisms and PD through PubMed, Embase, Chinese National Knowledge Infrastructure (CNKI), and Cochrane Library databases was performed without published year limited. RESULTS:A total of 47 studies with 7533 cases and 14442 controls were included in present study. The results showed statistically significant association between risk factor ApoE ?4 allele and PD in Asian population (P?=?.003, odds ratio, OR [95% confidence interval, CI]?=?1.43 [1.13,1.80]). Genotype ?2?4 have significantly associated with PD in Asian population (P?=?.004, OR [95% CI]?=?4.43 [1.62,12.10]). Genotype ?3?4 was significantly associated with PD in Latin-American population (P?=?.01, OR [95% CI]?=?1.44 [1.08,1.91]). In addition, the frequency of the genotype ?3?4 is lower in PD group than that in the control group in Caucasian population, and the difference of genotype ?3?4 is also statistically significant (P?=?.006, OR [95% CI]?=?0.86 [0.77,0.96]). Although significant heterogeneity was observed among all studies, the results were shown to be stabilized by sensitive analysis. No publish bias was observed. CONCLUSIONS:This meta-analysis suggests that the APOE ?4, but no ?2, might be a risk factor for PD in Asian population. Furthermore, the genotype ?2?4 may be a susceptible factor for PD in Asian population, and the genotype ?3?4 may be a susceptible factor for PD in both Caucasian and Latin-American populations.
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Project description:Although face-to-face cognitive-behavioral therapy (CBT) was found to be beneficial for the treatment of depression in Parkinson disease (dPD) in a recent randomized-controlled trial, access to care was identified as a critical issue that needs to be addressed in order to improve the management of this nonmotor complication in PD. The purpose of this study was to examine the feasibility and effect of telephone-based CBT for dPD.Twenty-one depressed people with PD participated in a National Institutes of Health-sponsored uncontrolled pilot trial of telephone-based CBT in an academic medical center from October 2009 to February 2011. The Hamilton Depression Rating Scale was the primary outcome. Treatment was provided to people with PD for 10 weeks, modified for delivery over the phone, and supplemented with 4 separate phone-based caregiver educational sessions. Assessments were completed at baseline and 5 (midpoint), 10 (end-of-treatment), and 14 weeks (follow-up) post-enrollment.Twenty (95%) people with PD completed the study treatment. Phone-based CBT was associated with significant improvements in depression, anxiety, negative thoughts, and coping. Mean Hamilton Depression Rating Scale change from baseline to week 10 was 7.91 points (P < .001, Cohen d = 1.21).Telephone-based CBT may be a feasible and helpful approach for treating dPD and warrants further exploration in randomized-controlled trials. Results were comparable to those observed in the few in-person cognitive-behavioral treatment studies for dPD conducted to date.
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