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The Journal of Maternal-fetal &... Dec 2023Three common endothelial nitric oxide synthase (eNOS) gene variants are existed such as; G-894T, T-786C, and variable number tandem repeats in intron-4 (VNTR intron-4)... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Three common endothelial nitric oxide synthase (eNOS) gene variants are existed such as; G-894T, T-786C, and variable number tandem repeats in intron-4 (VNTR intron-4) which has been proposed to be linked with PE. However, there is still debate regarding the findings. To address this, a review was conducted to assess the potential association of eNOS gene variants at these positions with the risk of PE.
METHODS
PubMed, Scopus, Science Direct, Hinari, and African Journal Online databases and Google Scholar search engines were utilized to search studies published in English-language until 30 January 2023. The Joanna Briggs Institute Meta-Analysis instrument was used for data extraction process and the Newcastle-Ottawa Scale was used to appraise the quality of the included studies. Meta-regression analysis was conducted using Stata 14 statistical software. The pooled odds ratios (ORs) of fixed and random effect models were utilized to evaluate the association of eNOS gene polymorphism with the risk of PE at 95% CI. Publication bias was assessed using Egger's test and a funnel plot.
RESULTS
The study included 47 observational studies involving 13,795 pregnant women (6216 cases and 7579 controls). Pregnant women carrying TT and CC genotypes of eNOS gene at 894 and 786 positions were found to have a greater probability of developing PE as compared to GG and TT genotypes (OR = 1.54 vs. 1.43 and CI: 1.12 - 2.14 vs.1.02 - 2.00 at 95% CI), respectively. However, a significant association was not observed between aa genotype of eNOS gene in VNTR intron-4 region and risk of PE as compared to bb genotype (OR =1.26, 95% CI: 0.83 - 1.89). The allelic model of eNOS gene at all positions showed nonsignificant association with the risk of PE.
CONCLUSIONS
The women having eNOS gene variants at 894 and 786 positions showed a significant association with the risk of PE. Yet, the women having eNOS gene variant at intron-4 region showed nonsignificant association with the risk of PE. Thus, this study suggests that eNOS gene variants may play a role in the development of PE, but large-scale studies are required to inaugurate concrete evidence on the roles of eNOS gene variants in PE pathogenesis.
Topics: Female; Humans; Pregnancy; Case-Control Studies; Genetic Predisposition to Disease; Genotype; Nitric Oxide Synthase Type III; Polymorphism, Genetic; Pre-Eclampsia
PubMed: 38086755
DOI: 10.1080/14767058.2023.2290918 -
BMC Nephrology Dec 2023Urolithiasis is one of the most prevalent diseases worldwide. Its prevalence is rising, both in developing and developed countries. It is known that genetic factors play... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Urolithiasis is one of the most prevalent diseases worldwide. Its prevalence is rising, both in developing and developed countries. It is known that genetic factors play big roles in the development of urolithiasis. One of the suspected factors is gene polymorphism. This study aims to find an accurate estimate of the association between genetic polymorphism and the risk of recurrent urolithiasis.
METHODS
A systematic review and meta-analysis were performed on 12 studies from 3 databases that investigated gene polymorphism as an risk factor of urolithiasis. The review was done using Review Manager® version 5.3.
RESULTS
Insignificant heterogenicity was found in this study. Populations from Asia and the Middle East are more likely to experience recurrent urolithiasis. Additionally, variation in the VDR and urokinase genes, particularly in the Asian population, increases the risk of developing recurrent urolithiasis.
CONCLUSIONS
Gene polymorphisms have significant roles in the development of urolithiasis, especially in the Middle Eastern region.
Topics: Humans; Case-Control Studies; Databases, Factual; Genetic Predisposition to Disease; Polymorphism, Genetic; Risk Factors; Urolithiasis
PubMed: 38066480
DOI: 10.1186/s12882-023-03368-y -
Heliyon Dec 2023To help in diagnosis and treatment of adult-onset Mendelian Susceptibility to Mycobacterial Disease (MSMD). (Review)
Review
OBJECTIVES
To help in diagnosis and treatment of adult-onset Mendelian Susceptibility to Mycobacterial Disease (MSMD).
METHODS
We reported a 27-year-old man who had disease onset at 18 years. Then we reviewed previous reports of adult-onset MSMD patients, and summarized their clinical characteristics.
RESULTS
The case was diagnosed as MSMD with tyrosine kinase 2 (TYK2) mutation and had dramatic improvement after treatment. In addition to our presented case and through a review of the literature, 12 cases in total were included in our study. Average age of disease onset was 29.4 years. Medium delay of diagnosis was 2.5 years. Four were with IFN-γR1 deficiency, four with IL-12β1 deficiency, two with NEMO deficiency, one with TYK2 deficiency and one with STAT1 deficiency. Common symptoms were lymphadenopathy (6/12, 50.0 %), weight loss (6/12, 50.0 %), bone/joint pain (5/12, 41.7 %), fever (4/12, 33.3 %) and gastrointestinal symptoms (4/12, 33.3 %). Mycobacteria caused infections in lymph nodes (7/12, 58.3 %), bone/joint (5/12, 41.7 %) and skin (5/12, 41.7 %). After treatment, eight (66.7 %) got favorable prognosis, two (16.7 %) died and one (16.7 %) was unknown.
CONCLUSIONS
Adult-onset MSMD have complex clinical presentations and are difficult to recognize, which results in delayed diagnosis. However, once identified, antibiotics and IFN-γ might have good efficacy. Therefore, when encountering adult patients with recurrent and refractory mycobacterial infections, especially in lymph nodes, bone/joints, and skin, MSMD should be considered.
PubMed: 38058431
DOI: 10.1016/j.heliyon.2023.e22632 -
Acta Bio-medica : Atenei Parmensis Dec 2023The relationship between precocious or early puberty and its treatment has received significant research attention, yielding diverse outcomes. This short review aims to...
BACKGROUND
The relationship between precocious or early puberty and its treatment has received significant research attention, yielding diverse outcomes. This short review aims to comprehensively analyze and summarize research articles to elucidate the potential link between precocious or early pubertal onset (CPP) and crucial health factors.
METHODS
We conducted a systematic review of studies published from -January 2000 to March 2023, sourced from databases of Medline, PubMed, Google Scholar and Web of Science. We assessed the relationship between CPP and final adult height (FHt), bone health, reproductive function, body mass index, metabolic and cardiovascular abnormalities, and increased cancer risk.
RESULTS
Upon reviewing and analyzing selected studies, the following key findings emerged: (a) treating CPP in girls before age 6-7 and in boys before age 9 improves FHt; (b) bone mineral density (BMD) decreases during GnRHa treatment but normalizes afterward, with no lasting effects on peak bone mass during puberty; (c) GnRH treatment does not negatively affect menstrual cycles; however, untreated CPP increases the risk of premature or early-onset menopause; (d) the incidence of PCOS/hyperandrogenemia may be slightly elevated in women with a history of CPP, but overall reproductive function remains largely unaffected; (e) earlier thelarche and menarche may enhance susceptibility to breast carcinogenesis; (f) CPP contributes to an increased risk of obesity and type 2 diabetes in both genders; (g) early menarche may slightly increase the risk of coronary heart disease and ischemic strokes and (h) early pubertal timing increases the risk of depression and anxiety disorders.
CONCLUSION
Monitoring and early diagnosis of these conditions are of paramount importance for successful management.
Topics: Female; Humans; Male; Child; Diabetes Mellitus, Type 2; Gonadotropin-Releasing Hormone; Puberty, Precocious; Obesity; Puberty
PubMed: 38054666
DOI: 10.23750/abm.v94i6.15316 -
The Journal of Clinical Endocrinology... Apr 2024Diabetic kidney disease (DKD) is the leading cause of end-stage renal disease. Measures to prevent and treat DKD require better identification of patients most at risk....
CONTEXT
Diabetic kidney disease (DKD) is the leading cause of end-stage renal disease. Measures to prevent and treat DKD require better identification of patients most at risk. In this systematic review, we summarize the existing evidence of genetic risk scores (GRSs) and their utility for predicting DKD in people with type 1 or type 2 diabetes.
EVIDENCE ACQUISITION
We searched MEDLINE, Embase, Web of Science, and Cochrane Reviews in June 2022 to identify all existing and relevant literature. Main data items sought were study design, sample size, population, single nucleotide polymorphisms of interest, DKD-related outcomes, and relevant summary measures of result. The Critical Appraisal Skills Programme checklist was used to evaluate the methodological quality of studies.
EVIDENCE SYNTHESIS
We identified 400 citations of which 15 are included in this review. Overall, 7 studies had positive results, 5 had mixed results, and 3 had negative results. Most studies with the strongest methodological quality (n = 9) reported statistically significant and favourable findings of a GRS's association with at least 1 measure of DKD.
CONCLUSION
This systematic review presents evidence of the utility of GRSs to identify people with diabetes that are at high risk of developing DKD. In practice, a robust GRS could be used at the first clinical encounter with a person living with diabetes in order to stratify their risk of complications. Further prospective research is needed.
Topics: Humans; Diabetic Nephropathies; Diabetes Mellitus, Type 2; Genetic Risk Score; Kidney Failure, Chronic
PubMed: 38039081
DOI: 10.1210/clinem/dgad704 -
Veterinary World Oct 2023Foodborne diseases caused by are prevalent globally. Treatment is challenging due to antibiotic resistance in bacteria, except for foodborne infections due to Shiga...
BACKGROUND AND AIM
Foodborne diseases caused by are prevalent globally. Treatment is challenging due to antibiotic resistance in bacteria, except for foodborne infections due to Shiga toxin-producing , for which treatment is symptomatic. Several studies have been conducted in Africa on antibiotic resistance of isolated from several sources. The prevalence and distribution of resistant pathogenic isolated from food, human, and animal sources and environmental samples and their virulence gene profiles were systematically reviewed.
MATERIALS AND METHODS
Bibliographic searches were performed using four databases. Research articles published between 2000 and 2022 on antibiotic susceptibility and virulence gene profile of isolated from food and other sources were selected.
RESULTS
In total, 64 articles were selected from 14 African countries: 45% of the studies were conducted on food, 34% on animal samples, 21% on human disease surveillance, and 13% on environmental samples. According to these studies, is resistant to ~50 antimicrobial agents, multidrug-resistant, and can transmit at least 37 types of virulence genes. Polymerase chain reaction was used to characterize and determine virulence genes.
CONCLUSION
A significant variation in epidemiological data was noticed within countries, authors, and sources (settings). These results can be used as an updated database for monitoring resistance in Africa. More studies using state-of-the-art equipment are needed to determine all resistance and virulence genes in pathogenic isolated in Africa.
PubMed: 38023276
DOI: 10.14202/vetworld.2023.2016-2028 -
PloS One 2023Cardiovascular diseases are some of the leading causes of death worldwide, with coronary artery disease leading as one of the primary causes of mortality in both the...
BACKGROUND
Cardiovascular diseases are some of the leading causes of death worldwide, with coronary artery disease leading as one of the primary causes of mortality in both the developing and developed worlds. Despite its prevalence, there is a disproportionately small number of studies conducted in populations of non-European ancestry, with the limited sample sizes of such studies further restricting the power and generalizability of respective findings. This research aimed at understanding the differences in the genetic architecture of coronary artery disease (CAD) in populations of diverse ancestries in order to contribute towards the understanding of the pathophysiology of coronary artery disease.
METHODS
We performed a systematic review on the 6th of October, 2022 summarizing genome-wide association studies on coronary artery disease, while employing the GWAS Catalog as an independent database to support the search. We developed a framework to assess the methodological quality of each study. We extracted and grouped associated single nucleotide polymorphisms and genes according to ancestry groups of participants.
RESULTS
We identified 3100 studies, of which, 36 relevant studies were included in this research. Three of the studies that were included were not listed in the GWAS Catalog, highlighting the value of conducting an independent search alongside established databases in order to ensure the full research landscape has been captured. 743,919 CAD case participants from 25 different countries were analysed, with 61% of the studies identified in this research conducted in populations of European ancestry. No studies investigated populations of Africans living in continental Africa or admixed American ancestry groups besides African-Americans, while limited sample sizes were included of population groups besides Europeans and East Asians. This observed disproportionate population representation highlights the gaps in the literature, which limits our ability to understand coronary artery disease as a global disease. 71 genetic loci were identified to be associated with coronary artery disease in more than one article, with ancestry-specific genetic loci identified in each respective population group which were not detected in studies of other ancestries.
CONCLUSIONS
Although the replication and validation of these variants are still warranted, these finding are indicative of the value of including diverse ancestry populations in GWAS reference panels, as a more comprehensive understanding of the genetic architecture and pathophysiology of CAD can be achieved.
Topics: Humans; Africa; Coronary Artery Disease; Genetic Predisposition to Disease; Genome-Wide Association Study; Polymorphism, Single Nucleotide; Population Groups; Racial Groups
PubMed: 38019802
DOI: 10.1371/journal.pone.0294341 -
The Journal of Infection Jan 2024The sudden outbreak of severe acute hepatitis of unknown aetiology (SAHUA) in the first half of 2022 affected more than 1010 children in 35 countries worldwide. Dire... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The sudden outbreak of severe acute hepatitis of unknown aetiology (SAHUA) in the first half of 2022 affected more than 1010 children in 35 countries worldwide. Dire clinical outcomes, such as acute liver failure necessitating transplantation, neurological symptoms, long-term sequelae, and death, highlight the need to determine the pathogenesis of this condition. Hypotheses on the aetiology include adenovirus and SARS-CoV-2 infections and an aberrant immune response to multiple pathogen exposure following lifting of lockdown measures but further investigation is required to reach an informed consensus.
METHODS
A literature search was performed on MEDLINE and EMBASE in accordance with PRISMA guidelines for systematic reviews. Primary studies reporting data on severe acute hepatitis of unknown aetiology in children from the COVID-19 era were selected for inclusion in our review. Data on patient demographics, clinical presentation and outcomes, and diagnostic testing for coinfection were extracted. Meta-analysis used a random-effects model.
RESULTS
The 33 included studies (30 case series and 3 case-control studies) described a total of 3636 cases of SAHUA (reported 1 January, 2019-31 December, 2022), with a median age of 3.5 years. Of these, 214 children (5.9%) received a liver transplant and 66 (1.8%) died. Whilst data on diagnostic testing was incomplete, the most frequently detected coinfections were with adenovirus and/or adeno-associated virus 2 (AAV2). Other common childhood respiratory and enteric pathogens, such as enterovirus, rhinovirus, and herpesviruses (EBV and HHV-6), were also identified.
CONCLUSION
Coinfection with AAV2 and other common childhood pathogens may predispose children to develop this novel severe hepatitis. Altered susceptibility and response to such pathogens may be a consequence of immunological naivety following pandemic restrictions. Further investigations are needed to generate high-quality evidence on aetiology for different patient demographics and geographical areas.
Topics: Child; Humans; Child, Preschool; Coinfection; COVID-19; Disease Outbreaks; Pandemics; Hepatitis; Acute Disease
PubMed: 38007049
DOI: 10.1016/j.jinf.2023.11.011 -
Pathogens (Basel, Switzerland) Nov 2023Host genetic factors significantly influence susceptibility to SARS-CoV-2 infection and COVID-19 severity. Among these genetic factors are single-nucleotide variants... (Review)
Review
Host genetic factors significantly influence susceptibility to SARS-CoV-2 infection and COVID-19 severity. Among these genetic factors are single-nucleotide variants (SNVs). and genes have been associated with severe COVID-19 in populations from the United Kingdom, Africa, and Latin America. IFNAR1 and IFNAR2 are subunits forming the type I interferon receptor (IFNAR). SNVs in the genes impact protein function, affecting antiviral response and disease phenotypes. This systematic review aimed to describe and variants associated with COVID-19 susceptibility and severity. Accordingly, the current review focused on and studies published between January 2021 and February 2023, utilizing the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) protocol. The electronic search was conducted in PubMed databases using Boolean operators and inclusion and exclusion criteria. Of the 170 literature pieces, 11 studies were included. We include case reports of rare SNVs, defined by minor allele frequency (MAF) < 1%, and genome-wide associated studies (GWAS). Variants in and could potentially be new targets for therapies that limit the infection and the resulting inflammation by SARS-CoV-2 infection.
PubMed: 38003785
DOI: 10.3390/pathogens12111320 -
International Journal of Molecular... Nov 2023Behçet's disease (BD) is a complex, recurring inflammatory disorder with autoinflammatory and autoimmune components. This comprehensive review aims to explore BD's... (Review)
Review
Behçet's disease (BD) is a complex, recurring inflammatory disorder with autoinflammatory and autoimmune components. This comprehensive review aims to explore BD's pathogenesis, focusing on established genetic factors. Studies reveal that is the primary genetic risk factor, but non-HLA genes (, , ), as well as innate immunity genes (, , ), also contribute. Genome-wide studies emphasize the significance of and HLA-I epistasis. These variants influence antigen presentation, enzymatic activity, and HLA-I peptidomes, potentially leading to distinct autoimmune responses. We conducted a systematic review of the literature to identify studies exploring the association between and BD and further highlighted the roles of innate and adaptive immunity in BD. Dysregulations in Th1/Th2 and Th17/Th1 ratios, heightened clonal cytotoxic (CD8+) T cells, and reduced T regulatory cells characterize BD's complex immune responses. Various immune cell types (neutrophils, γδ T cells, natural killer cells) further contribute by releasing cytokines (IL-17, IL-8, GM-CSF) that enhance neutrophil activation and mediate interactions between innate and adaptive immunity. In summary, this review advances our understanding of BD pathogenesis while acknowledging the research limitations. Further exploration of genetic interactions, immune dysregulation, and immune cell roles is crucial. Future studies may unveil novel diagnostic and therapeutic strategies, offering improved management for this complex disease.
Topics: Humans; Behcet Syndrome; Antigen Presentation; Genetic Predisposition to Disease; HLA-B Antigens; Risk Factors; Aminopeptidases; Minor Histocompatibility Antigens
PubMed: 38003572
DOI: 10.3390/ijms242216382