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British Journal of Sports Medicine Jul 2015Recurrent instability following a first-time anterior traumatic shoulder dislocation may exceed 26%. We systematically reviewed risk factors which predispose this... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Recurrent instability following a first-time anterior traumatic shoulder dislocation may exceed 26%. We systematically reviewed risk factors which predispose this population to events of recurrence.
METHODS
A systematic review of studies published before 1 July 2014. Risk factors which predispose recurrence following a first-time traumatic anterior shoulder dislocation were documented and rates of recurrence were compared. Pooled ORs were analysed using random-effects meta-analysis.
RESULTS
Ten studies comprising 1324 participants met the criteria for inclusion. Recurrent instability following a first-time traumatic anterior shoulder dislocation was 39%. Increased risk of recurrent instability was reported in people aged 40 years and under (OR=13.46), in men (OR=3.18) and in people with hyperlaxity (OR=2.68). Decreased risk of recurrent instability was reported in people with a greater tuberosity fracture (OR=0.13). The rate of recurrent instability decreased as time from the initial dislocation increased. Other factors such as a bony Bankart lesion, nerve palsy and occupation influenced rates of recurrent instability.
CONCLUSIONS
Sex, age at initial dislocation, time from initial dislocation, hyperlaxity and greater tuberosity fractures were key risk factors in at least two good quality cohort studies resulting in strong evidence as concluded in the GRADE criteria. Although bony Bankart lesions, Hill Sachs lesions, occupation, physiotherapy treatment and nerve palsy were risk factors for recurrent instability, the evidence was weak using the GRADE criteria-these findings relied on poorer quality studies or were inconsistent among studies.
Topics: Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Disease Susceptibility; Female; Humans; Joint Instability; Male; Middle Aged; Recurrence; Risk Factors; Sex Factors; Shoulder Dislocation; Young Adult
PubMed: 25900943
DOI: 10.1136/bjsports-2014-094342 -
International Journal of Molecular... Jan 2023Although people with human leukocyte antigens (HLA) DQ2 and/or DQ8 are more likely to develop celiac disease (CD), the condition cannot be fully explained by this... (Meta-Analysis)
Meta-Analysis Review
Although people with human leukocyte antigens (HLA) DQ2 and/or DQ8 are more likely to develop celiac disease (CD), the condition cannot be fully explained by this genetic predisposition alone. Multiple, as yet unidentified, factors contribute to the genesis of CD, including genetics, the environment, and the immune system. In order to provide insight into a prospective possibility and an expanded screening technique, we aim to undertake a comprehensive and meta-analytical study of the assessment and distribution of HLA class II (HLA-DQ2/DQ8) in adult CD patients. A systematic review was conducted using an electronic search of databases (PubMed, Google Scholar, Embase, and Direct Science) from January 2004 to February 2022. DQ2/DQ2 homozygotes have the highest risk of developing CD. DQ2/DQ8 typing is an effective test to exclude CD from the differential diagnosis of a patient with CD symptoms. Although other non-HLA genes have been associated with CD, they are rarely considered at diagnosis because they account for only a small proportion of the heritability of CD. This finding, together with the information gathered previously, may be useful in considering widely available and economically feasible screening options for celiac disease in young people.
Topics: Humans; Adult; Adolescent; Celiac Disease; Prospective Studies; Genetic Predisposition to Disease
PubMed: 36674702
DOI: 10.3390/ijms24021188 -
Clinical Infectious Diseases : An... Jan 2016Norovirus and rotavirus are prominent enteric viruses responsible for severe acute gastroenteritis disease burden around the world. Both viruses recognize and bind to... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Norovirus and rotavirus are prominent enteric viruses responsible for severe acute gastroenteritis disease burden around the world. Both viruses recognize and bind to histo-blood group antigens, which are expressed by the fucosyltransferase 2 (FUT2) gene. Individuals with a functional FUT2 gene are termed "secretors." FUT2 polymorphisms may influence viral binding patterns and, therefore, may influence host susceptibility to infection by these viruses.
METHODS
We performed a systematic review of the published literature on this topic. Data were abstracted and compiled for descriptive analyses and metaanalyses. We estimated pooled odds ratios (ORs) for infection using random-effects models.
RESULTS
We found that secretors were 9.9 times (95% confidence interval [CI], 3.9-24.8) as likely to be infected with genogroup II.4 noroviruses and 2.2 times as likely to be infected with genogroup II non-4 noroviruses (95% CI, 1.2-4.2) compared with nonsecretors. Secretors were also 26.6 times more susceptible to infections from P[8]-type rotaviruses compared with nonsecretors (95% CI, 8.3-85.0).
CONCLUSIONS
Our analyses indicate that host genetic susceptibility to norovirus and rotavirus infection may be strain specific. As strain distribution and the proportion of genetic phenotypes vary in different countries, future studies should focus on differences in susceptibility among various ethnicities. Knowledge of innate susceptibility to rotavirus and norovirus can lead to improved understanding of both vaccine performance and individual risk of disease.
Topics: Caliciviridae Infections; Fucosyltransferases; Genetic Predisposition to Disease; Humans; Norovirus; Rotavirus; Rotavirus Infections; Galactoside 2-alpha-L-fucosyltransferase
PubMed: 26508510
DOI: 10.1093/cid/civ873 -
Journal of Shoulder and Elbow Surgery Jun 2017Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and is likely to extend beyond... (Review)
Review
BACKGROUND
Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and is likely to extend beyond repetitive microtrauma or overuse. Our objective was to determine whether there is a genetic or familial predisposition to rotator cuff disease.
METHODS
A literature search of PubMed and Embase databases identified 251 citations. After review of the titles, abstracts, and full articles, 7 met our inclusion and exclusion criteria.
RESULTS
Four studies assessed familial predisposition to rotator cuff disease. One of these demonstrated that siblings of an individual with a rotator cuff tear were more likely to develop a full-thickness tear and more likely to be symptomatic. A 5-year follow-up showed that the relative risks were increased for the siblings to have a full-thickness tear, for a tear to progress in size, and for being symptomatic. Another study demonstrated that a significantly higher number of individuals with tears had family members with a history of tears or surgery than those without tears did. The other 3 studies investigated whether a genetic predisposition to rotator cuff disease exists and found significant association of haplotypes in DEFB1, FGFR1, FGF3, ESRRB, and FGF10 and 2 single-nucleotide polymorphisms within SAP30BP and SASH1.
CONCLUSION
Prior studies provide preliminary evidence for genetic and familial predisposition to rotator cuff disease. However, there is a lack of large genome-wide studies that can provide more definitive information and guide early detection of individuals at risk, prophylactic rehabilitation, and potential gene therapies and regenerative medicine interventions.
Topics: Genetic Predisposition to Disease; Humans; Muscular Diseases; Rotator Cuff
PubMed: 28162885
DOI: 10.1016/j.jse.2016.11.038 -
PLoS Neglected Tropical Diseases Apr 2020Mycetoma is one of the badly neglected tropical diseases, characterised by subcutaneous painless swelling, multiple sinuses, and discharge containing aggregates of the...
Mycetoma is one of the badly neglected tropical diseases, characterised by subcutaneous painless swelling, multiple sinuses, and discharge containing aggregates of the infecting organism known as grains. Risk factors conferring susceptibility to mycetoma include environmental factors and pathogen factors such as virulence and the infecting dose, in addition to host factors such as immunological and genetic predisposition. Epidemiological evidence suggests that host genetic factors may regulate susceptibility to mycetoma and other fungal infections, but they are likely to be complex genetic traits in which multiple genes interact with each other and environmental factors, as well as the pathogen, to cause disease. This paper reviews what is known about genetic predisposition to fungal infections that might be relevant to mycetoma, as well as all studies carried out to explore host genetic susceptibility to mycetoma. Most studies were investigating polymorphisms in candidate genes related to the host immune response. A total of 13 genes had allelic variants found to be associated with mycetoma, and these genes lie in different pathways and systems such as innate and adaptive immune systems, sex hormone biosynthesis, and some genes coding for host enzymes. None of these studies have been replicated. Advances in genomic science and the supporting technology have paved the way for large-scale genome-wide association and next generation sequencing (NGS) studies, underpinning a new strategy to systematically interrogate the genome for variants associated with mycetoma. Dissecting the contribution of host genetic variation to susceptibility to mycetoma will enable the identification of pathways that are potential targets for new treatments for mycetoma and will also enhance the ability to stratify 'at-risk' individuals, allowing the possibility of developing preventive and personalised clinical care strategies in the future.
Topics: Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Immunologic Factors; Male; Mycetoma; Polymorphism, Genetic; Risk Factors
PubMed: 32352976
DOI: 10.1371/journal.pntd.0008053 -
International Journal of Molecular... Nov 2022Vitamin D, formerly known for its role in calcium-phosphorus homeostasis, was shown to exert a broad influence on immunity and on differentiation and proliferation... (Meta-Analysis)
Meta-Analysis Review
Vitamin D, formerly known for its role in calcium-phosphorus homeostasis, was shown to exert a broad influence on immunity and on differentiation and proliferation processes in the last few years. In the field of endocrinology, there is proof of the potential role of vitamin D and vitamin D-related genes in the pathogenesis of thyroid cancer-the most prevalent endocrine malignancy. Therefore, the study aimed to systematically review the publications on the association between vitamin D-related gene variants (polymorphisms, mutations, etc.) and thyroid cancer. PubMed, EMBASE, Scopus, and Web of Science electronic databases were searched for relevant studies. A total of ten studies were found that met the inclusion criteria. Six vitamin D-related genes were analyzed (-vitamin D receptor, -cytochrome P450 family 2 subfamily R member 1, -cytochrome P450 family 24 subfamily A member 1, -cytochrome P450 family 27 subfamily B member 1, -7-dehydrocholesterol reductase and -cubilin). Moreover, a meta-analysis was conducted to summarize the data from the studies on polymorphisms (rs2228570/I, rs1544410/I, rs7975232/I and rs731236/I). Some associations between thyroid cancer risk (, , ) or the clinical course of the disease () and vitamin D-related gene polymorphisms were described in the literature. However, these results seem inconclusive and need validation. A meta-analysis of the five studies of common polymorphisms did not confirm their association with increased susceptibility to differentiated thyroid cancer. Further efforts are necessary to improve our understanding of thyroid cancer pathogenesis and implement targeted therapies for refractory cases.
Topics: Humans; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Vitamin D; Vitamin D3 24-Hydroxylase; Risk Factors; Receptors, Calcitriol; Thyroid Neoplasms; Genotype
PubMed: 36362448
DOI: 10.3390/ijms232113661 -
Medicina (Kaunas, Lithuania) Feb 2022The aim of this systematic review was to analyse which candidate genes were examined in genetic association studies and their association with major depressive disorder... (Review)
Review
The aim of this systematic review was to analyse which candidate genes were examined in genetic association studies and their association with major depressive disorder (MDD). We searched PUBMED for relevant studies published between 1 July 2012 and 31 March 2019, using combinations of keywords: "major depressive disorder" OR "major depression" AND "gene candidate", "major depressive disorder" OR "major depression" AND "polymorphism". Synthesis focused on assessing the likelihood of bias and investigating factors that may explain differences between the results of studies. For selected gene list after literature overview, functional enrichment analysis and gene ontology term enrichment analysis were conducted. 141 studies were included in the qualitative review of gene association studies focusing on MDD. 86 studies declared significant results ( < 0.05) for 172 SNPs in 85 genes. The 13 SNPs associations were confirmed by at least two studies. The 18 genetic polymorphism associations were confirmed in both the previous and this systematic analysis by at least one study. The majority of the studies (68.79 %) did not use or describe power analysis, which may have had an impact over the significance of their results. Almost a third of studies (N = 54) were conducted in Chinese Han population. Unfortunately, there is still insufficient data on the links between genes and depression. Despite the reported genetic associations, most studies were lacking in statistical power analysis, research samples were small, and most gene polymorphisms have been confirmed in only one study. Further genetic research with larger research samples is needed to discern whether the relationship is random or causal. This systematic review had summarized all reported genetic associations and has highlighted the genetic associations that have been replicated. Unfortunately, most gene polymorphisms have been confirmed only once, so further studies are warranted for replicating these genetic associations. In addition, most studies included a small number of MDD cases that could be indicative for false positive. Considering that polymorphism loci and associations with MDD is also vastly dependent on interpersonal variation, extensive studies of gene interaction pathways could provide more answers to the complexity of MDD.
Topics: Depression; Depressive Disorder, Major; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Polymorphism, Single Nucleotide
PubMed: 35208605
DOI: 10.3390/medicina58020285 -
Gene Nov 2022The COVID-19 pandemic has spawned global health crisis of unprecedented magnitude, claiming millions of lives and pushing healthcare systems in many countries to the... (Meta-Analysis)
Meta-Analysis Review
The COVID-19 pandemic has spawned global health crisis of unprecedented magnitude, claiming millions of lives and pushing healthcare systems in many countries to the brink. Among several factors that contribute to an increased risk of COVID-19 and progression to exacerbated manifestations, host genetic landscape is increasingly being recognized as a critical determinant of susceptibility/resistance to infection and a prognosticator of clinical outcomes in infected individuals. Recently, several case-control association studies investigated the influence of human gene variants on COVID-19 susceptibility and severity to identify the culpable mutations. However, a comprehensive synthesis of the recent advances in COVID-19 host genetics research was lacking, and the inconsistent findings of the association studies required reliable evaluation of the strength of association with greater statistical power. In this study, we embarked on a systematic search of all possible reports of genetic association with COVID-19 till April 07, 2022, and performed meta-analyses of all the genetic polymorphisms that were examined in at least three studies. After identifying a total of 84 studies that investigated the association of 130 polymorphisms in 61 genes, we performed meta-analyses of all the eligible studies. Seven genetic polymorphisms involving 15,550 cases and 444,007 controls were explored for association with COVID-19 susceptibility, of which, ACE1 I/D rs4646994/rs1799752, APOE rs429358, CCR5 rs333, and IFITM3 rs12252 showed increased risk of infection. Meta-analyses of 11 gene variants involving 6702 patients with severe COVID-19 and 8640 infected individuals with non-severe manifestations revealed statistically significant association of ACE2 rs2285666, ACE2 rs2106809, ACE2 rs2074192, AGTR1 rs5186, and TNFA rs1800629 with COVID-19 severity. Overall, our study presents a synthesis of evidence on all the genetic determinants implicated in COVID-19 to date, and provides evidence of correlation between the above polymorphisms with COVID-19 susceptibility and severity.
Topics: Angiotensin-Converting Enzyme 2; COVID-19; Genetic Predisposition to Disease; Human Genetics; Humans; Membrane Proteins; Pandemics; RNA-Binding Proteins; SARS-CoV-2
PubMed: 35987511
DOI: 10.1016/j.gene.2022.146790 -
Brain, Behavior, and Immunity May 2017Fatigue is one of the most common and distressing symptoms, leading to markedly decreased quality of life among a large subset of patients with a variety of disorders.... (Review)
Review
Fatigue is one of the most common and distressing symptoms, leading to markedly decreased quality of life among a large subset of patients with a variety of disorders. Susceptibility to fatigue may be influenced by genetic factors including single nucleotide polymorphisms (SNPs), especially in the regulatory regions, of relevant genes. To further investigate the association of SNPs with fatigue in various patient populations, a systematic search was conducted on Pubmed, CINAHL, PsycINFO, and Sociological Abstracts Database for fatigue related-terms in combination with polymorphisms or genetic variation-related terms. Fifty papers in total met the inclusion and exclusion criteria for this analysis. These 50 papers were further classified into three subgroups for evaluation: chronic fatigue syndrome (CFS), cancer-related fatigue (CRF) and other disease-related fatigue. SNPs in regulatory pathways of immune and neurotransmitter systems were found to play important roles in the etiologies of CFS, CRF and other disease-related fatigue. Evidence for associations between elevated fatigue and specific polymorphisms in TNFα, IL1b, IL4 and IL6 genes was revealed for all three subgroups of fatigue. We also found CFS shared a series of polymorphisms in HLA, IFN-γ, 5-HT and NR3C1 genes with other disease-related fatigue, however these SNPs (excluding IFN-γ) were not found to be adequately investigated in CRF. Gaps in knowledge related to fatigue etiology and recommendations for future research are further discussed.
Topics: Fatigue; Fatigue Syndrome, Chronic; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Neoplasms; Polymorphism, Single Nucleotide
PubMed: 28089639
DOI: 10.1016/j.bbi.2017.01.007 -
Medicina (Kaunas, Lithuania) Jul 2022: Starting in early December 2019, the novel Coronavirus Disease (COVID-19) from infection with COVID-19 has caused a global pandemic. Many aspects of its pathogenesis... (Review)
Review
: Starting in early December 2019, the novel Coronavirus Disease (COVID-19) from infection with COVID-19 has caused a global pandemic. Many aspects of its pathogenesis and related clinical consequences are still unclear. Early diagnosis and dynamic monitoring of prognostic factors are essential to improve the ability to manage COVID-19 infection. This study aimed to provide an account of the role played by vitamins C and D on the onset, progression and severity of COVID-19. Clinical features and infection-related risk factors are also briefly discussed. : In March 2022, the main online databases were accessed. All the articles that investigate the possible role of vitamins C and D on COVID-19 susceptibility, severity and progression were considered. : The current evidence on vitamin C and D supplementation in patients with COVID-19 infection is inconsistent and controversial. In some studies, vitamins were used as coadjuvant of a formal experimental therapy, while in others as main treatment. Ethnicity and hospital setting (inpatient/outpatient) were also variable. Moreover, there was no consensus between studies in administration protocol: high heterogeneity in dosage, administration, and duration of the treatment were evident. Finally, some studies administered vitamins pre- and/or during COVID infection, in patients with different risk factors and infection severity. : While waiting to develop a targeted, safe and effective therapy, it is important to investigate individual predisposition and proper disease management. Concluding, available data on the use of nutraceuticals in COVID-19 are inconsistent. However, there is a lack of evidence-based guidelines which recommend vitamin C and D supplementation in patients with COVID-19, and results from high quality randomised controlled trials (RCTs) are inconsistent. Current investigations so far are mostly observational, and include a relatively small sample size which can lead to biased results. Large-scale multicentre studies are therefore needed.
Topics: Ascorbic Acid; COVID-19; Disease Susceptibility; Humans; Pandemics; SARS-CoV-2; Vitamin D; Vitamins
PubMed: 35888660
DOI: 10.3390/medicina58070941