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Wiener Klinische Wochenschrift Dec 2016Osteoporosis is the most frequent bone metabolic disease. In order to improve early detection, prediction, prevention, diagnosis, and treatment of the disease, a new... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Osteoporosis is the most frequent bone metabolic disease. In order to improve early detection, prediction, prevention, diagnosis, and treatment of the disease, a new model of P4 medicine (personalized, predictive, preventive, and participatory medicine) could be applied. The aim of this work was to systematically review the publications of four different types of "omics" studies related to osteoporosis, in order to discover novel predictive, preventive, diagnostic, and therapeutic targets for better management of the geriatric population.
METHODS
To systematically search the PubMed database, we created specific groups of criteria for four different types of "omics" information on osteoporosis: genomic, transcriptomic, proteomic, and metabolomic. We then analyzed the intersections between them in order to find correlations and common pathways or molecules with important roles in osteoporosis, and with a potential application in disease prediction, prevention, diagnosis, or treatment.
RESULTS
Altogether, 180 publications of "omics" studies in the field of osteoporosis were found and reviewed at first selection. After introducing the inclusion and exclusion criteria (the secondary selection), 46 papers were included in the systematic review.
CONCLUSIONS
The intersection of reviewed papers identified five genes (ESR1, IBSP, CTNNB1, SOX4, and IDUA) and processes like the Wnt pathway, JAK/STAT signaling, and ERK/MAPK, which should be further validated for their predictive, diagnostic, or other clinical value in osteoporosis. Such molecular insights will enable us to fit osteoporosis into the P4 strategy and could increase the effectiveness of disease prediction and prevention, with a decrease in morbidity in the geriatric population.
Topics: Aged; Aged, 80 and over; Female; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Geriatric Assessment; Humans; Male; Osteoporosis; Precision Medicine; Prevalence; Risk Factors
PubMed: 27873024
DOI: 10.1007/s00508-016-1125-3 -
Genetics in Medicine : Official Journal... Jun 2023Microcosting can provide valuable economic evidence to inform the translation of genomic sequencing to clinical practice. A systematic literature review was conducted to... (Review)
Review
PURPOSE
Microcosting can provide valuable economic evidence to inform the translation of genomic sequencing to clinical practice. A systematic literature review was conducted to identify studies employing microcosting methods to estimate the cost of genomic sequencing to diagnose cancer and rare diseases.
METHODS
Four electronic databases, Medline, Embase, EconLit, and Cumulated Index to Nursing and Allied Health Literature were searched. Reference lists of identified studies were also searched. Studies were included if they had estimated the cost of genome sequencing or exome sequencing for cancer or rare disease diagnosis using microcosting methods.
RESULTS
Seven studies met the inclusion criteria. Cost estimates for genome sequencing and exome sequencing ranged between US$2094 and $9706 and US$716 and $4817 per patient, respectively. All studies disaggregated resource use and cost inputs into labor, equipment, and consumables, with consumables being the main cost component. Considerable differences in the level of detail used to report the steps and resources used in each of the sequencing steps limited study comparisons.
CONCLUSION
Defining a standard microcosting methodology is challenging because of the heterogeneous nature of genomic sequencing. Reporting of detailed and complete sequencing procedures, inclusion of sensitivity analyses and clear justifications of resource use, and measurement of unit costs can improve comparability, transferability, and generalizability of study findings.
Topics: Humans; Neoplasms; Exome Sequencing; Cost-Benefit Analysis; Chromosome Mapping; Rare Diseases; Genomics
PubMed: 36939042
DOI: 10.1016/j.gim.2023.100829 -
The Cochrane Database of Systematic... Mar 2016People with serious mental illness have consistently higher levels of mortality and morbidity than the general population. They have greater levels of cardiovascular... (Review)
Review
BACKGROUND
People with serious mental illness have consistently higher levels of mortality and morbidity than the general population. They have greater levels of cardiovascular disease, metabolic disease, diabetes, and respiratory illness. Although genetics may have a role in the physical health problems of these people, lifestyle and environmental factors such as smoking, obesity, poor diet, and low levels of physical activity play a prominent part.
OBJECTIVES
To review the effects of dietary advice for schizophrenia and schizophrenia-like psychosis.
SEARCH METHODS
We searched the Cochrane Schizophrenia Group's Trials Register (September 09, 2013 and February 24, 2016).
SELECTION CRITERIA
We planned to include all randomised clinical trials focusing on dietary advice versus standard care.
DATA COLLECTION AND ANALYSIS
The review authors (RP, KTP) independently screened search results but did not identify any studies that fulfilled the review's criteria.
MAIN RESULTS
We did not identify any studies that met our inclusion criteria.
AUTHORS' CONCLUSIONS
Dietary advice has been shown to improve the dietary intake of the general population. Research is needed to determine whether dietary advice can have a similar benefit in people with serious mental illness.
Topics: Counseling; Diet; Humans; Life Style; Schizophrenia
PubMed: 27007216
DOI: 10.1002/14651858.CD009547.pub2 -
Comprehensive Psychiatry Aug 2024Trichotillomania (TTM) and excoriation disorder (ED) are impairing obsessive-compulsive related disorders that are common in the general population and for which there...
BACKGROUND
Trichotillomania (TTM) and excoriation disorder (ED) are impairing obsessive-compulsive related disorders that are common in the general population and for which there are no clear first-line medications, highlighting the need to better understand the underlying biology of these disorders to inform treatments. Given the importance of genetics in obsessive-compulsive disorder (OCD), evaluating genetic factors underlying TTM and ED may advance knowledge about the pathophysiology of these body-focused repetitive behaviors.
AIM
In this systematic review, we summarize the available evidence on the genetics of TTM and ED and highlight gaps in the field warranting further research.
METHOD
We systematically searched Embase, PsycInfo, PubMed, Medline, Scopus, and Web of Science for original studies in genetic epidemiology (family or twin studies) and molecular genetics (candidate gene and genome-wide) published up to June 2023.
RESULTS
Of the 3536 records identified, 109 studies were included in this review. These studies indicated that genetic factors play an important role in the development of TTM and ED, some of which may be shared across the OCD spectrum, but there are no known high-confidence specific genetic risk factors for either TTM or ED.
CONCLUSIONS
Our review underscores the need for additional genome-wide research conducted on the genetics of TTM and ED, for instance, genome-wide association and whole-genome/whole-exome DNA sequencing studies. Recent advances in genomics have led to the discovery of risk genes in several psychiatric disorders, including related conditions such as OCD, but to date, TTM and ED have remained understudied.
Topics: Humans; Trichotillomania; Obsessive-Compulsive Disorder; Genome-Wide Association Study; Excoriation Disorder
PubMed: 38833896
DOI: 10.1016/j.comppsych.2024.152506 -
Movement Disorders : Official Journal... Feb 2015The aim of this study was to refine the population prevalence estimate of Tourette Syndrome (TS) in children and to investigate potential sources of heterogeneity in... (Meta-Analysis)
Meta-Analysis Review
The aim of this study was to refine the population prevalence estimate of Tourette Syndrome (TS) in children and to investigate potential sources of heterogeneity in previously published studies. A systematic review was conducted and all qualifying published studies of TS prevalence were examined. Extracted data were subjected to a random-effects meta-analysis weighted by sample size; meta-regressions were performed to examine covariates that have previously been proposed as potential sources of heterogeneity. Twenty-six articles met study inclusion criteria. Studies derived from clinically referred cases had prevalence estimates that were significantly lower than those derived from population-based samples (P = 0.004). Among the 21 population-based prevalence studies, the pooled TS population prevalence estimate was 0.52% (95% confidence interval CI: 0.32-0.85). In univariable meta-regression analysis, study sample size (P = 0.002) and study date (P = 0.03) were significant predictors of TS prevalence. In the final multivariable model including sample size, study date, age, and diagnostic criteria, only sample size (P < 0.001) and diagnostic criteria (omnibus P = 0.003; Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision [DSM-IV-TR]: P = 0.005) were independently associated with variation in TS population prevalence across studies. This study refines the population prevalence estimate of TS in children to be 0.3% to 0.9%. Study sample size, which is likely a proxy for case assessment method, and the use of DSM-IV-TR diagnostic criteria are the major sources of heterogeneity across studies. The true TS population prevalence rate is likely at the higher end of these estimates, given the methodological limitations of most studies. Further studies in large, well-characterized samples will be helpful to determine the burden of disease in the general population.
Topics: Child; Child, Preschool; Data Collection; Diagnostic and Statistical Manual of Mental Disorders; Female; Humans; Male; Patient Selection; Prevalence; Sample Size; Tourette Syndrome
PubMed: 25487709
DOI: 10.1002/mds.26089 -
World Journal of Pediatric Surgery 2022Previous studies have suggested an association between vascular endothelial growth factor A () rs3025039 polymorphism and biliary atresia (BA). However, this conclusion... (Review)
Review
BACKGROUND
Previous studies have suggested an association between vascular endothelial growth factor A () rs3025039 polymorphism and biliary atresia (BA). However, this conclusion is controversial and there is no published pooled evidence of this association.
METHODS
This study was conducted and reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. The protocol was registered with PROSPERO (International Prospective Register of Systematic Reviews). A thorough search was performed on databases including PubMed, Embase, and Chinese Biomedical Database up to August 2020. This study included 846 cases of BA and 2821 controls concerning rs3025039 polymorphism. We selected relevant studies based on the following inclusion criteria: (1) the study design was case-control and cohort and (2) the patients carried standard clinical diagnoses of BA, etc. The exclusion criteria were as follows: (1) patients with other related diseases, (2) lack of requisite information and (3) duplicate data. The OR (odd ratio) and the corresponding 95% CI (confidence interval) were calculated to estimate the association.
RESULTS
This study on rs3025039 polymorphism in the Chinese population included 846 cases and 2821 controls. The results showed that there was no significant association between rs3025039 and susceptibility to BA under four genetic models. The results of the subgroup analysis were similar to the overall results.
CONCLUSIONS
This meta-analysis shows that rs3025039 was not associated with susceptibility to BA in the Chinese population. Further validation may entail additional research.
PROSPERO REGISTRATION NUMBER
CRD42020203812.
PubMed: 36474631
DOI: 10.1136/wjps-2021-000344 -
Journal of Psychiatric Research Jul 2023Obesity has been associated with elevated risk of depression. If this association is causal, the increasing obesity prevalence might lead to worsening population mental... (Meta-Analysis)
Meta-Analysis
BACKGROUND/OBJECTIVES
Obesity has been associated with elevated risk of depression. If this association is causal, the increasing obesity prevalence might lead to worsening population mental health, but the strength of the causal effect has not been systematically evaluated.
SUBJECTS/METHODS
The current study provides a systematic review and meta-analysis of studies examining associations between body mass index and depression using Mendelian randomization with multiple genetic variants as instruments for body mass index. We used this estimate to calculate the expected changes in prevalence of population psychological distress from the 1990s-2010s, which were compared with the empirically observed trends in psychological distress in the Health Survey for England (HSE) and U.S. National Health Interview Surveys (NHIS).
RESULTS
Meta-analysis of 8 Mendelian randomization studies indicated an OR = 1.33 higher depression risk associated with obesity (95% confidence interval 1.19, 1.48). Between 15% and 20% of the participants of HSE and NHIS reported at least moderate psychological distress. The increase of obesity prevalence from the 1990s-2010s in HSE and NHIS would have led to a 0.6 percentage-point increase in population psychological distress.
CONCLUSIONS
Mendelian randomization studies suggest that obesity is a causal risk factor for elevated risk of depression. The increasing obesity rates may have modestly increased the prevalence of depressive symptoms in the general population. Mendelian randomization relies on methodological assumptions that may not always hold, so other quasi-experimental methods are needed to confirm the current conclusions.
Topics: Humans; Depression; Mental Health; Mendelian Randomization Analysis; Risk Factors; Obesity; Body Mass Index; Genome-Wide Association Study
PubMed: 37207436
DOI: 10.1016/j.jpsychires.2023.05.034 -
Journal of Human Genetics May 2015Mutations in APP, PSEN1 and PSEN2 as the genetic causes of familial Alzheimer's disease (FAD) have been found in various ethnic populations. A substantial number of FAD... (Meta-Analysis)
Meta-Analysis Review
Mutations in APP, PSEN1 and PSEN2 as the genetic causes of familial Alzheimer's disease (FAD) have been found in various ethnic populations. A substantial number of FAD pedigrees with mutations have been reported in the Japanese population; however, it remains unclear whether the genetic and clinical features of FAD in the Japanese population differ from those in other populations. To address this issue, we conducted a systematic review and meta-analysis of Japanese FAD and frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) by literature search. Using this analysis, we identified 39 different PSEN1 mutations in 140 patients, 5 APP mutations in 35 patients and 16 MAPT mutations in 84 patients. There was no PSEN2 mutation among Japanese patients. The age at onset in Japanese FAD patients with PSEN1 mutations was significantly younger than that in patients with APP mutations. Kaplan-Meier analysis revealed that patients with MAPT mutations showed a shorter survival than patients with PSEN1 or APP mutations. Patients with mutations in different genes exhibit characteristic clinical presentations, suggesting that mutations in causative genes may modify the clinical presentations. By collecting and cataloging genetic and clinical information on Japanese FAD and FTDP-17, we developed an original database designated as Japanese Familial Alzheimer's Disease Database, which is accessible at http://alzdb.bri.niigata-u.ac.jp/.
Topics: Age of Onset; Alzheimer Disease; Chromosomes, Human, Pair 17; Frontotemporal Dementia; Genetic Predisposition to Disease; Humans; Mutation
PubMed: 25694106
DOI: 10.1038/jhg.2015.15 -
Neuropathology and Applied Neurobiology Jun 2023Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are associated with intelligence quotients (IQs) lower than the normative values, and it is... (Meta-Analysis)
Meta-Analysis Review
AIMS
Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are associated with intelligence quotients (IQs) lower than the normative values, and it is suggested that IQ is negatively correlated with the number of affected isoforms (i.e., Dp427, Dp140 and Dp71). Therefore, the objective of this meta-analysis was to estimate the IQ, and the IQ-genotype association according to the altered dystrophin isoforms, in the population with BMD or DMD.
METHODS
A systematic search in Medline, Web of Science, Scopus and the Cochrane Library was conducted from inception to March 2023. Observational studies that determined the IQ and/or the IQ by genotype in the population with BMD or DMD were included. Meta-analyses of IQ, IQ by genotype and IQ-genotype association by comparing IQ according to the genotype were conducted. The results are shown as the mean/mean differences and 95% confidence intervals.
RESULTS
Fifty-one studies were included. The IQ in BMD was 89.92 (85.84, 94.01) and in DMD was 84.61 (82.97, 86.26). Moreover, the IQ for Dp427-/Dp140+/Dp71+ and Dp427-/Dp140-/Dp71+ was 90.62 (86.72, 94.53) and 80.73 (67.49, 93.98) in BMD, while the IQ for Dp427-/Dp140+/Dp71+, Dp427-/Dp140-/Dp71+ and Dp427-/Dp140-/Dp71- was 93.05 (89.42, 96.67), 81.78 (77.23, 86.32) and 49.19 (40.47, 57.90) in DMD. Finally, in DMD, Dp427-/Dp140-/Dp71+ vs Dp427-/Dp140+/Dp71+ and Dp427-/Dp140-/Dp71- vs Dp427-/Dp140-/Dp71+ were associated with -10.73 (-14.66, -6.81) and -36.14 (-48.87, -23.41) points, respectively.
CONCLUSIONS
The IQ in BMD and DMD was lower than the normative values. Moreover, in DMD, there is a synergistic association between the number of affected isoforms and IQ.
Topics: Humans; Dystrophin; Muscular Dystrophy, Duchenne; Protein Isoforms; Intelligence
PubMed: 37312416
DOI: 10.1111/nan.12914 -
Journal of the Association For Research... Feb 2024To assess the available evidence to support a genetic contribution and define the role of common and rare variants in tinnitus.
PURPOSE
To assess the available evidence to support a genetic contribution and define the role of common and rare variants in tinnitus.
METHODS
After a systematic search and quality assessment, 31 records including 383,063 patients were selected (14 epidemiological studies and 17 genetic association studies). General information on the sample size, age, sex, tinnitus prevalence, severe tinnitus distribution, and sensorineural hearing loss was retrieved. Studies that did not include data on hearing assessment were excluded. Relative frequencies were used for qualitative variables to compare different studies and to obtain average values. Genetic variants and genes were listed and clustered according to their potential role in tinnitus development.
RESULTS
The average prevalence of tinnitus estimated from population-based studies was 26.3% for any tinnitus, and 20% of patients with tinnitus reported it as an annoying symptom. One study has reported population-specific differences in the prevalence of tinnitus, the white ancestry being the population with a higher prevalence. Genome-wide association studies have identified and replicated two common variants in the Chinese population (rs2846071; rs4149577) in the intron of TNFRSF1A, associated with noise-induced tinnitus. Moreover, gene burden analyses in sequencing data from Spanish and Swede patients with severe tinnitus have identified and replicated ANK2, AKAP9, and TSC2 genes.
CONCLUSIONS
The genetic contribution to tinnitus is starting to be revealed and it shows population-specific effects in European and Asian populations. The common allelic variants associated with tinnitus that showed replication are associated with noise-induced tinnitus. Although severe tinnitus has been associated with rare variants with large effect, their role on hearing or hyperacusis has not been established.
Topics: Humans; Tinnitus; Genome-Wide Association Study; Hearing; Hearing Loss, Sensorineural; Hyperacusis
PubMed: 38334885
DOI: 10.1007/s10162-024-00925-6