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Schizophrenia Research Dec 2015Schizophrenia affects between 0.3% and 2% of the worldwide population. A genetic contribution has been postulated in the development of this disorder. Genes such as ApoE... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Schizophrenia affects between 0.3% and 2% of the worldwide population. A genetic contribution has been postulated in the development of this disorder. Genes such as ApoE have been implicated in the neurodevelopment associated with schizophrenia in case-control and meta-analysis studies, but the results remain inconclusive. Due to this, the aim of the present study was to explore the association between ApoE and schizophrenia through a meta-analysis.
MATERIAL AND METHODS
We collected all relevant studies by searching PubMed and EBSCO databases. The pooled odds ratios with 95% confidence intervals were calculated to estimate the association. The following models were evaluated: A) ε4 vs ε3, B) ε4 vs ε2, C) ε4 vs ε3+ε2, D) Caucasian population and E) Asian population. Statistical analyses were performed using EPIDAT 3.1 software.
RESULTS
The meta-analyses comprised 28 association studies, which included 4703 controls and 3452 subjects with schizophrenia. A significant protective effect was found for allele ε3 in the Asian population (OR=0.73, 95% CI=0.54-0.98). No significant associations were observed in the other models and populations analyzed.
CONCLUSIONS
Our meta-analysis suggests a protective association between ApoE allele ε3 and schizophrenia in the Asian population.
Topics: Apolipoproteins E; Databases, Bibliographic; Humans; Schizophrenia
PubMed: 26372448
DOI: 10.1016/j.schres.2015.08.031 -
Archives of Oral Biology Dec 2022To explore whether vitamin D receptor (VDR) gene polymorphisms are associated to the risk of chronic and aggressive periodontitis in the Chinese population. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To explore whether vitamin D receptor (VDR) gene polymorphisms are associated to the risk of chronic and aggressive periodontitis in the Chinese population.
DESIGN
The electronic databases PubMed, SCOPUS, Web of Science, China Biology Medicine Database, and China National Knowledge Infrastructure Database were searched without language restrictions to find available publications about the association between BsmI, TaqI, FokI, and ApaI polymorphisms of VDR gene and the risk of periodontitis listed up to December 2021. The Newcastle-Ottawa scale (NOS) was used to assess the quality of eligible publications and those with a score of ≥ 6 were considered to be of high quality. The strength of associations was evaluated using the odds ratio (OR) and 95% confidence intervals (CI).
RESULTS
16 eligible studies including 6106 participants were finally selected for pooled analyses. The NOS score of eligible papers ranged from 6 to 8, showing that all analyzed studies were of high quality. VDR BsmI polymorphism under the allele (OR = 1.46, 95% CI: 1.1-1.9, P = 0.008) and dominant (OR = 1.5, 95% CI: 1.06-2.12, P = 0.022) models was significantly associated with the risk of severe periodontitis in South China. VDR FokI polymorphism under the allele (OR = 2.01, 95% CI: 1.3-2.9, P < 0.001), dominant (OR = 2.2, 95% CI: 1.14-4.23, P = 0.018), and recessive (OR = 2.9, 95% CI: 1.5-5.5, P = 0.001) models showed a significant association with the risk of aggressive periodontitis in whole Chinese population. There was a protective effect of the ApaI polymorphism against the development of severe periodontitis in the North Chinese people; indeed, a significant negative association was found between ApaI polymorphism under the dominant model and the risk of severe periodontitis in North China (OR = 0.41, 95% CI: 019-087, P = 0.021). However, VDR TaqI polymorphism showed no significant association.
CONCLUSIONS
The present meta-analysis detected a significant association between BsmI, FokI, and ApaI polymorphisms in the VDR gene and the risk of severe periodontitis in China.
Topics: Humans; Receptors, Calcitriol; Genetic Predisposition to Disease; Aggressive Periodontitis; Language; Polymorphism, Genetic
PubMed: 36279828
DOI: 10.1016/j.archoralbio.2022.105566 -
Neurology India 2013Recent genome-wide and locus-specific association studies identified RNF213 as an important Moyamoya disease (MMD) susceptibility gene. But the results of these studies... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Recent genome-wide and locus-specific association studies identified RNF213 as an important Moyamoya disease (MMD) susceptibility gene. But the results of these studies are limited by the few subjects, different methodologies and ethnicities.
AIMS
To investigate the association between p.R4810K (rs 112735431, ss179362673; G > A) and p.R4859K (c.14576 G > A) polymorphisms of the RNF213 gene and MMD susceptibility.
SETTINGS AND DESIGN
We conducted a meta-analysis to evaluate the association.
MATERIALS AND METHODS
Two investigators independently searched the PubMed, Medline, and Embase databases for studies published before October 2012. For included studies, we performed meta-analyses using Cochrane RevMan software.
STATISTICAL ANALYSIS
Summary odds ratios (ORs) and 95% confidence intervals (CIs) for RNF213 p.R4810K and p.R4859K polymorphisms; MMD were calculated in a fixed-effects model and a random effects model whenever appropriate.
RESULTS
Five eligible studies were reviewed and analyzed, which included two studies for p.R4810K polymorphisms (421 cases and 1214 controls) and three studies for p.R4859K polymorphisms (398 cases and 765 controls). Overall, the pooled results indicated that both p.R4810K polymorphisms and p.R4859K polymorphisms were associated with MMD risk (OR 92.03, 95% CI 54.06-156.65, P < 0.00001 and OR 157.53, 95% CI 85.37-290.7, P < 0.00001, respectively). Stratified analyses by ethnicity revealed the population attributable risks in the Japanese and Korean populations were larger than that in the Chinese population (P =0.0006).
CONCLUSIONS
This meta-analysis demonstrated that there are strong associations between p.R4859K and p.R4810K polymorphisms of the RNF213 gene and MMD. The discoveries of its association with MMD may help in early diagnosis and prevention of this disease. Further study is still necessary to clarify the biochemical function and pathological role of RNF213 in MMD.
Topics: Adenosine Triphosphatases; Asian People; Genetic Predisposition to Disease; Humans; Moyamoya Disease; Polymorphism, Genetic; Ubiquitin-Protein Ligases
PubMed: 23466837
DOI: 10.4103/0028-3886.107927 -
American Journal of Medical Genetics.... Sep 2008The serotonin transporter gene (5-HTT) plays a crucial role in serotonergic neurotransmission and has been found to be associated, with varying degrees of significance,... (Meta-Analysis)
Meta-Analysis Review
The serotonin transporter gene (5-HTT) plays a crucial role in serotonergic neurotransmission and has been found to be associated, with varying degrees of significance, with many diseases, including autism. Prior association studies of autism have yielded conflicting results regarding the association between two common 5-HTT polymorphisms, the promoter insertion/deletion (5-HTTLPR) and the intron 2 VNTR (STin2 VNTR). We conducted a systematic review and meta-analysis to test the following hypotheses: (i) there is an association between autism and either or both of the 5-HTTLPR and STin2 VNTR polymorphisms, and (ii) the S allele of 5-HTTLPR and/or the STin2.12 allele of the VNTR are the specific risk alleles for autism. All published family-based and population based studies were examined to determine the overall strength of association between 5-HTT polymorphisms and autism. After exclusion of studies with overlapping samples and studies whose data did not allow for calculation of an odds ratio, 16 studies were included for final analyses, all but two of which used a family-based design. The meta-analysis failed to find a significant overall association between either of the 5-HTT polymorphisms examined and autism. Further, no allelic transmission distortion was found when studies of simplex (11 studies) and multiplex (3 studies) family samples were analyzed separately. However, there was significant heterogeneity by ethnicity; family based studies of US mixed population samples showed preferential transmission of the S allele of 5-HTTLPR (S allele:L allele = 247:183), while there was no allelic distortion among the family-based studies of European and Asian samples.
Topics: Autistic Disorder; DNA Mutational Analysis; Gene Frequency; Haplotypes; Humans; Polymorphism, Genetic; Serotonin Plasma Membrane Transport Proteins
PubMed: 18286633
DOI: 10.1002/ajmg.b.30720 -
Human Vaccines & Immunotherapeutics Nov 2016Antigenic drift of seasonal influenza viruses and the occasional introduction of influenza viruses of novel subtypes into the human population complicate the timely... (Review)
Review
Antigenic drift of seasonal influenza viruses and the occasional introduction of influenza viruses of novel subtypes into the human population complicate the timely production of effective vaccines that antigenically match the virus strains that cause epidemic or pandemic outbreaks. The development of game-changing vaccines that induce broadly protective immunity against a wide variety of influenza viruses is an unmet need, in which recombinant viral vectors may provide. Use of viral vectors allows the delivery of any influenza virus antigen, or derivative thereof, to the immune system, resulting in the optimal induction of virus-specific B- and T-cell responses against this antigen of choice. This systematic review discusses results obtained with vectored influenza virus vaccines and advantages and disadvantages of the currently available viral vectors.
Topics: Animals; Drug Carriers; Genetic Vectors; Humans; Influenza Vaccines; Vaccines, Attenuated; Vaccines, Synthetic; Viruses
PubMed: 27455345
DOI: 10.1080/21645515.2016.1210729 -
American Journal of Alzheimer's Disease... Sep 2015Large-scale genome-wide association studies have identified TREM2 variants to be significantly associated with Alzheimer's disease (AD) in caucasian population. The goal... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
Large-scale genome-wide association studies have identified TREM2 variants to be significantly associated with Alzheimer's disease (AD) in caucasian population. The goal of this systematic study and meta-analysis was to assess the association between Triggering receptor expressed on myeloid cells 2 (TREM2) variants and AD in East Asian population.
METHODS
In this study, literatures were searched in PubMed, MEDLINE, EMBASE, and the Cochrane library to screen citations from January 1990 to June 2014. Data analysis was done by using the Stata 12 software.
RESULTS
Twelve studies were considered for analysis. A total of 13 535 patients with AD and 22 976 healthy controls were studied. The results showed that rs75932628 variant was significantly associated with AD in caucasian population (P < .001, odds ratio ¼ 3.17, 95% confidence interval 2.45-4.09). However, the association was not found in East Asian population.
CONCLUSION
In our study, we found that TREM2 variant is likely not associated with AD in East Asian population.
Topics: Alzheimer Disease; Asian People; Asia, Eastern; Humans; Membrane Glycoproteins; Receptors, Immunologic; White People
PubMed: 25852195
DOI: 10.1177/1533317515577128 -
European Journal of Neurology Apr 2021We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the...
OBJECTIVE
We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the literature.
METHODS
A population of 2028 subjects (including 1053 patients with different subtypes of isolated dystonia and 975 healthy controls) from southern and central Spain was included. The genes TOR1A, THAP1 and GNAL were screened using a combination of high-resolution melting analysis and direct DNA resequencing. In addition, an extensive literature search to identify original articles (published before 10 August 2020) reporting mutations in TOR1A, THAP1 or GNAL associated to dystonia was performed.
RESULTS
Pathogenic or likely pathogenic variants in TOR1A, THAP1 and GNAL were identified in 0.48%, 0.57% and 0.29% of our patients, respectively. Five patients carried the variation p.Glu303del in TOR1A. A very rare variant in GNAL (p.Ser238Asn) was found as a putative risk factor for dystonia. In the literature, variations in TOR1A, THAP1 and GNAL accounted for about 6%, 1.8% and 1.1% of published dystonia patients, respectively.
CONCLUSIONS
There is a different genetic contribution to dystonia of these three genes in our patients (about 1.3% of patients) and in the literature (about 3.6% of patients), probably due the high proportion of adult-onset cases in our cohort. As regards age at onset, site of dystonia onset, and final distribution, in our population there is a clear differentiation between DYT-TOR1A and DYT-GNAL, with DYT-THAP1 likely to be an intermediate phenotype.
Topics: Adult; Apoptosis Regulatory Proteins; DNA-Binding Proteins; Dystonia; Dystonic Disorders; Humans; Molecular Chaperones; Mutation; Spain
PubMed: 33175450
DOI: 10.1111/ene.14638 -
The British Journal of Psychiatry : the... Nov 2011Biological or genetic models of mental illness are commonly expected to increase tolerance towards people with mental illness, by reducing notions of responsibility and... (Review)
Review
BACKGROUND
Biological or genetic models of mental illness are commonly expected to increase tolerance towards people with mental illness, by reducing notions of responsibility and blame.
AIMS
To investigate whether biogenetic causal attributions of mental illness among the general public are associated with more tolerant attitudes, whether such attributions are related to lower perceptions of guilt and responsibility, to what extent notions of responsibility are associated with rejection of people who are mentally ill, and how prevalent notions of responsibility are among the general public with regard to different mental disorders.
METHOD
A systematic review was conducted of representative population studies examining attitudes towards people with mental illness and beliefs about such disorders.
RESULTS
We identified 33 studies relevant to this review. Generally, biogenetic causal attributions were not associated with more tolerant attitudes; they were related to stronger rejection in most studies examining schizophrenia. No published study reported on associations of biogenetic causal attributions and perceived responsibility. The stereotype of self-responsibility was unrelated to rejection in most studies. Public images of mental disorder are generally dominated by the stereotypes of unpredictability and dangerousness, whereas responsibility is less relevant.
CONCLUSIONS
Biogenetic causal models are an inappropriate means of reducing rejection of people with mental illness.
Topics: Attitude to Health; Dangerous Behavior; Guilt; Humans; Mental Disorders; Population Surveillance; Prejudice; Public Opinion; Rejection, Psychology; Stereotyping
PubMed: 22045945
DOI: 10.1192/bjp.bp.110.085563 -
The Lancet. Microbe Aug 2021Adoption of molecular techniques to detect infection has revealed many previously undetected (by microscopy) yet transmissible low-density infections. The proportion of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Adoption of molecular techniques to detect infection has revealed many previously undetected (by microscopy) yet transmissible low-density infections. The proportion of these infections is typically highest in low transmission settings, but drivers of submicroscopic infection remain unclear. Here, we updated a previous systematic review of asexual prevalence by microscopy PCR in the same population. We aimed to explore potential drivers of submicroscopic infection and to identify the locations where submicroscopic infections are most common.
METHODS
In this systematic review and meta-analysis we searched PubMed and Web of Science from Jan 1, 2010, until Oct 11, 2020, for cross-sectional studies reporting data on asexual prevalence by both microscopy and PCR. Surveys of pregnant women, surveys in which participants had been chosen based on symptoms or treatment, or surveys that did not involve a population from a defined location were excluded. Both the number of individuals tested and the number of individuals who tested positive by microscopy or PCR, or both, for infection were extracted. Bayesian regression modelling was used to explore determinants of the size of the submicroscopic reservoir including geographical location, seasonality, age, methodology, and current or historical patterns of transmission.
FINDINGS
Of 4893 identified studies, we retained 121 after screening and removal of duplicates. 45 studies from a previous systematic review were included giving 166 studies containing 551 cross-sectional survey microscopy and PCR prevalence pairs. Our results show that submicroscopic infections predominate in low-transmission settings across all regions, but also reveal marked geographical variation, with the proportion of infections that are submicroscopic being highest in South American surveys and lowest in west African surveys. Although current transmission levels partly explain these results, we find that historical transmission intensity also represents a crucial determinant of the size of the submicroscopic reservoir, as does the demographic structure of the infected population (with submicroscopic infection more likely to occur in adults than in children) and the PCR or microscopy methodology used. We also observed a small yet significant influence of seasonality, with fewer submicroscopic infections observed in the wet season than the dry season. Integrating these results with estimates of infectivity in relation to parasite density suggests the contribution of submicroscopic infections to transmission across different settings is likely to be highly variable.
INTERPRETATION
Significant variation in the prevalence of submicroscopic infection exists even across settings characterised by similar current levels of transmission. These differences in submicroscopic epidemiology potentially warrant different approaches to targeting this infected subgroup across different settings to eliminate malaria.
FUNDING
Bill & Melinda Gates Foundation, The Royal Society, and the UK Medical Research Council.
Topics: Adult; Bayes Theorem; Child; Cross-Sectional Studies; Female; Humans; Malaria; Malaria, Falciparum; Plasmodium falciparum; Pregnancy
PubMed: 34382027
DOI: 10.1016/S2666-5247(21)00055-0 -
BMC Neurology Jan 2006Prospective population-based neuropathological studies have a special place in dementia research which is under emphasised. (Review)
Review
BACKGROUND
Prospective population-based neuropathological studies have a special place in dementia research which is under emphasised.
METHODS
A systematic review of the methods of population-based neuropathological studies of dementia was carried out. These studies were assessed in relation to their representativeness of underlying populations and the clinical, neuropsychological and neuropathological approaches adopted.
RESULTS
Six studies were found to be true population-based neuropathological studies of dementia in the older people: the Hisayama study (Japan); Vantaa 85+ study (Finland); CC75C study (Cambridge, UK); CFAS (multicentre, UK); Cache County study (Utah, USA); HAAS (Hawaï, USA). These differ in the core characteristics of their populations. The studies used standardised neuropathological methods which facilitate analyses on: clinicopathological associations and confirmation of diagnosis, assessing the validity of hierarchical models of neuropathological lesion burden; investigating the associations between neuropathological burden and risk factors including genetic factors. Examples of findings are given although there is too little overlap in the areas investigated amongst these studies to form the basis of a systematic review of the results.
CONCLUSION
Clinicopathological studies based on true population samples can provide unique insights in dementia. Individually they are limited in power and scope; together they represent a powerful source to translate findings from laboratory to populations.
Topics: Aged; Aged, 80 and over; Asian; Autopsy; Cerebrovascular Disorders; Cohort Studies; Dementia; Dementia, Vascular; Epidemiologic Research Design; Female; Finland; Hawaii; Humans; Japan; Male; Multicenter Studies as Topic; Prospective Studies; Risk Factors; United Kingdom; Utah
PubMed: 16401346
DOI: 10.1186/1471-2377-6-2