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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 -
Gut and Liver Sep 2022Pancreatitis is one of the most common inflammatory diseases of the pancreas caused by autodigestion induced by excessive premature protease activation. However,... (Review)
Review
Pancreatitis is one of the most common inflammatory diseases of the pancreas caused by autodigestion induced by excessive premature protease activation. However, recognition of novel pathophysiological mechanisms remains a still challenge. Both genetic and environmental factors contribute to the pathogenesis of pancreatitis, and the gut microbiota is a potential source of an environmental effect. In recent years, several new frontiers in gut microbiota and genetic risk assessment research have emerged and improved the understanding of the disease. These investigations showed that the disease progression of pancreatitis could be regulated by the gut microbiome, either through a translocation influence or in a host immune response manner. Meanwhile, the onset of the disease is also associated with the heritage of a pathogenic mutation, and the disease progression could be modified by genetic risk factors. In this review, we focused on the recent advances in the role of gut microbiota in the pathogenesis of pancreatitis, and the genetic susceptibility in pancreatitis.
Topics: Disease Progression; Gastrointestinal Microbiome; Genetic Predisposition to Disease; Humans; Pancreatitis
PubMed: 34911043
DOI: 10.5009/gnl210362 -
BMC Medical Genomics Oct 2022Bladder cancer (BC) is the 10 most frequent tumor worldwide. Evidence shows an association between elevated risk of BC and various single nucleotide polymorphisms (SNP).... (Review)
Review
BACKGROUND
Bladder cancer (BC) is the 10 most frequent tumor worldwide. Evidence shows an association between elevated risk of BC and various single nucleotide polymorphisms (SNP). BC incidence was the highest in Lebanon according to Globocan 2018 report, but little is known about the genetic susceptibility of Lebanese people to this disease. We aim to evaluate whether this prominent incidence of BC in Lebanon is attributable to known coding genetic variants.
METHODS
A case-control study was conducted at Hotel-Dieu de France Hospital, Beirut. A cohort of 51 Lebanese patients with BC were recruited between 2017 and 2020. Whole Exome Sequencing (WES) was performed on peripheral blood samples to detect coding genetic variants in the patients. An in-house database including WES data from 472 Lebanese individuals served as control. Literature review of the genetic predisposition to BC was conducted to establish a database of variants known to influence the risk of BC. In-common SNPs were identified between cases and the aforecited database, and their allelic frequencies was quantified in the former and in controls. Comparative analysis of the allelic frequencies of each in-common SNP was carried out between cases, controls, and the genome aggregation database (gnomAD). Analysis was performed by applying the binomial law and setting the p-value to 10.
RESULTS
484 polymorphisms associated with BC were extracted from the literature review ;151 of which were in-common with the 206 939 variations detected by WES in our cases. Statistically significant differences (p-value < 10) in allelic frequencies was seen in 11 of the 151 in-common SNPs, but none of which corresponds with a higher BC risk. Moreover, rs4986782 variant in the NAT1 gene is not associated with BC in the Lebanese population. `.
CONCLUSION
This is the first next-generation sequencing (NGS)- based study investigating BC risk in a Lebanese cohort of 51 patients. The majority of known exonic variants in the literature were not associated with BC in our patients. Further studies with larger sample sizes are warranted to explore the association of BC in our population with known non-coding genetic variants, and the remainder of WES-generated private Lebanese variants.
Topics: Case-Control Studies; Genetic Predisposition to Disease; Humans; Polymorphism, Single Nucleotide; Urinary Bladder Neoplasms; Exome Sequencing
PubMed: 36253817
DOI: 10.1186/s12920-022-01372-z -
Current Opinion in Pediatrics Dec 2020Fungal infections have steadily increased in incidence, emerging as a significant cause of morbidity and mortality in patients with iatrogenic immunosuppression.... (Review)
Review
PURPOSE OF REVIEW
Fungal infections have steadily increased in incidence, emerging as a significant cause of morbidity and mortality in patients with iatrogenic immunosuppression. Simultaneously, we have witnessed a growing population of newly described inherited immune disorders that have enhanced our understanding of the human immune response against fungi. In the present review, we provide an overview and diagnostic roadmap to inherited disorders which confer susceptibility to superficial and invasive fungal infections.
RECENT FINDINGS
Inborn errors of fungal immunity encompass a heterogeneous group of disorders, some of which confer fungal infection-specific susceptibility, whereas others also feature broader infection vulnerability and/or noninfectious manifestations. Infections by Candida, Aspergillus, endemic dimorphic fungi, Pneumocystis, and dermatophytes along with their organ-specific presentations provide clinicians with important clues in the assessment of patients with suspected immune defects.
SUMMARY
The absence of iatrogenic risk factors should raise suspicion for inborn errors of immunity in children and young adults with recurrent or severe fungal diseases. Expeditious diagnosis and prompt initiation of antifungal therapy and management of complications are paramount to achieve remission of fungal disease in the setting of primary immunodeficiency disorders.
Topics: Child; Genetic Predisposition to Disease; Humans; Mycoses
PubMed: 33009121
DOI: 10.1097/MOP.0000000000000948 -
Nutricion Hospitalaria Sep 2013Obesity is one of the major public health problems worldwide. It is a chronic, complex, and multifactorial origin disease characterised by body fat excess mainly due to... (Review)
Review
Obesity is one of the major public health problems worldwide. It is a chronic, complex, and multifactorial origin disease characterised by body fat excess mainly due to an imbalance between dietary intake and energy expenditure. One of the major complications of obesity is metabolic syndrome, which comprises anthropometrical, clinical, and metabolic dysfunctions that predispose the affected individual to the development of type 2 diabetes mellitus and cardiovascular diseases. It is hypothesised that the variability in the susceptibility to obesity-mediated metabolic complications involves both environmental and genetic factors. Whereas advances in the knowledge of the variations in the human genome have led to the identification of susceptibility genes that contribute to obesity and related disorders, relatively few studies have specifically focused on the interactions between obesity and genetic polymorphisms and the development of metabolic complications. Despite these limited efforts, an increasing amount of evidence suggests that the effects of some gene variants on metabolic traits are modified by or present only in the setting of obesity. Furthermore, some of these loci may have larger effects on metabolic phenotypes in the presence of certain dietary or lifestyle factors. In the present manuscript, we reviewed the genes and their variants that have been evidenced to play a role in obesity-associated metabolic complications through genetic association studies, including candidate gene and genome-wide association approaches in adults and children.
Topics: Child; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Metabolic Syndrome; Pediatric Obesity; Prevalence; Spain
PubMed: 24010743
DOI: 10.3305/nh.2013.28.sup5.6917 -
International Journal of Molecular... Aug 2023Understanding the factors creating genetic susceptibility in psoriasis may provide a basis for improving targeted treatment strategies. In this review, we discuss the... (Review)
Review
Understanding the factors creating genetic susceptibility in psoriasis may provide a basis for improving targeted treatment strategies. In this review, we discuss the genes linked to the pathogenesis of psoriasis and their relationship to the available treatment options. To identify the relevant genetic markers and treatments, we searched PubMed, Google Scholar, MEDLINE, and Web of Science with keywords, including , , , and . The articles in English from database inception to 1/1/23 were included. Case reports and series were excluded. Gene variant forms commonly implicated in the pathogenesis of psoriasis include those encoding for interleukins, interferons, and other mediators involved in inflammatory pathways, such as JAK/STAT, and NF-κB. Several of the treatments for psoriasis (for example IL23 and TYK2 inhibitors) target the products of genes linked to psoriasis. Multiple genes are linked to the pathogenesis of psoriasis. This understanding may provide an avenue for the development of new psoriasis treatment strategies and for more effective, safer treatment outcomes.
Topics: Humans; Genetic Predisposition to Disease; Psoriasis; Interleukins
PubMed: 37569685
DOI: 10.3390/ijms241512310 -
Current Opinion in Pulmonary Medicine Sep 2014Recent genetic findings have identified new targets of investigation in the field of pulmonary fibrosis and have the potential to change clinical care. (Review)
Review
PURPOSE OF REVIEW
Recent genetic findings have identified new targets of investigation in the field of pulmonary fibrosis and have the potential to change clinical care.
RECENT FINDINGS
These findings implicate alterations in host defense, cell-to-cell adhesion, and aging and senescence in the pathophysiology of pulmonary fibrosis. At least one common genetic variant strongly associated with pulmonary fibrosis appears to have prognostic implications for patients.
SUMMARY
The inherited risk for pulmonary fibrosis is substantial, and recent data suggest that genetic risk for familial and sporadic forms of the disease are similar. Further characterizing this genetic risk will influence clinical practice in terms of categorization, diagnosis, and screening of individuals for this disease.
Topics: Aging; Cell Adhesion; Genetic Predisposition to Disease; Genetic Variation; Humans; Pulmonary Fibrosis
PubMed: 25022318
DOI: 10.1097/MCP.0000000000000074 -
Aging Sep 2015
Topics: Animals; Child; Genetic Predisposition to Disease; Humans; Infections; Leukemia; Mice; PAX5 Transcription Factor
PubMed: 26412458
DOI: 10.18632/aging.100815 -
Frontiers in Bioscience (Landmark... Jun 2013The variety of clinical presentations of eye changes in patients with Graves' disease (GD) suggests that complex interactions between genetic, environmental, endogenous... (Review)
Review
The variety of clinical presentations of eye changes in patients with Graves' disease (GD) suggests that complex interactions between genetic, environmental, endogenous and local factors influence the severity of Graves' ophthalmopathy (GO). It is thought that the development of GO might be influenced by genetic factors and environmental factors, such as cigarette smoking. At present, however, the role of genetic factors in the development of GO is not known. On the basis of studies with candidate genes and other genetic approaches, several susceptibility loci in GO have been proposed, including immunological genes, human leukocyte antigen (HLA), cytotoxic T-lymphocyte antigen-4 (CTLA-4), regulatory T-cell genes and thyroid-specific genes. This review gives a brief overview of the current range of major susceptibility genes found for GD.
Topics: Genetic Predisposition to Disease; Graves Disease; Humans
PubMed: 23747868
DOI: 10.2741/4164 -
Cell Metabolism Mar 2017Except in rare cases, obesity tends to be a consequence of both an unhealthy lifestyle and a genetic susceptibility to gain weight. With more than 200 common genetic... (Review)
Review
Except in rare cases, obesity tends to be a consequence of both an unhealthy lifestyle and a genetic susceptibility to gain weight. With more than 200 common genetic variants identified, there is a growing interest in developing personalized preventive and treatment strategies to predict an individual's obesity risk. We review the literature on the prediction of obesity and show that models based on the established genetic variants have poorer predictive ability than traditional predictors, such as family history of obesity and childhood obesity. Current findings suggest that opportunities for precision medicine in common obesity may be limited.
Topics: Genetic Predisposition to Disease; Genetic Variation; Humans; Life Style; Multifactorial Inheritance; Obesity; Risk Factors
PubMed: 28273476
DOI: 10.1016/j.cmet.2017.02.013