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Frontiers in Genetics 2024There is a growing body of evidence indicating a possible association between genetic variations and attention-deficit hyperactivity disorder (ADHD), although the... (Review)
Review
There is a growing body of evidence indicating a possible association between genetic variations and attention-deficit hyperactivity disorder (ADHD), although the results have been inconsistent. The objective of this study was to evaluate the correlation between the GRIN2A, GRIN2B and GRM7 gene polymorphisms and ADHD. A comprehensive meta-analysis and subgroup evaluation was conducted using a fixed-effects model to analyze the association between ADHD and GRIN2B (rs2284411), GRIN2A (rs2229193), and GRM7 (rs3792452) in six genetic models (dominant, recessive, overdominant, homozygous, heterozygous, and allele models). The meta-analysis comprised 8 studies. The overall analysis showed that the GRIN2B rs2284411 T allele and T carries were significantly associated with a decreased risk of ADHD (dominant model:TT + CT vs. CC: OR = 0.783; 95% CI: 0.627-0.980; = 0.032, allele model:T vs. C: OR = 0.795; 95% CI: 0.656-0.964; = 0.019), especially in the Korean subgroup (dominant model:TT + CT vs. CC: OR = 0.640; 95% CI: 0.442-0.928; = 0.019, overdominant model: CT vs. TT + CC: OR = 0.641; 95% CI: 0.438-0.938; = 0.022, allele model:T vs. C: OR = 0.712; 95% CI: 0.521-0.974; = 0.034 and heterozygous model: CT vs. CC: OR = 0.630; 95% CI: 0.429-0.925; = 0.018). However, no meaningful associations were found for rs2229193 and rs3792452. The results of the meta-analysis provide strong evidence that the rs2284411 T allele is significantly associated with reduced susceptibility to ADHD, particularly in the Korean population.
PubMed: 38544802
DOI: 10.3389/fgene.2024.1348387 -
Medicina (Kaunas, Lithuania) Mar 2024: Nucleotide Excision Repair (NER), the most extensively researched DNA repair mechanism, is responsible for repairing a variety of DNA damages, and Xeroderma... (Meta-Analysis)
Meta-Analysis Review
: Nucleotide Excision Repair (NER), the most extensively researched DNA repair mechanism, is responsible for repairing a variety of DNA damages, and Xeroderma Pigmentosum (XP) genes participate in NER. Herein, we aimed to update the previous results with a meta-analysis evaluating the association of XPA, XPB/ERCC3, XPF/ERCC4, and XPG/ERCC5 polymorphisms with the susceptibility to HNC. : PubMed/Medline, Web of Science, Scopus, and Cochrane Library databases were searched without any restrictions until 18 November 2023 to find relevant studies. The Review Manager 5.3 (RevMan 5.3) software was utilized to compute the effect sizes, which were expressed as the odds ratio (OR) with a 95% confidence interval (CI). : Nineteen articles were involved in the systematic review and meta-analysis that included thirty-nine studies involving ten polymorphisms. The results reported that the CC genotype of polymorphism showed a significantly decreased risk of HNC in the recessive model (OR: 0.89; 95%CI: 0.81, 0.99; -value is 0.03). In addition, the CT genotype (OR: 0.65; 95%CI: 0.48, 0.89; -value is 0.008) of the polymorphism was associated with a decreased risk, and the T allele (OR: 1.28; 95%CI: 1.05, 1.57; -value is 0.02), the TT (OR: 1.74; 95%CI: 1.10, 2.74; -value is 0.02), and the TT + CT (OR: 2.22; 95%CI: 1.04, 4.74; -value is 0.04) genotypes were associated with an increased risk of HNC. : The analysis identified two polymorphisms, and , as being significantly associated with the risk of HNC. The study underscored the influence of various factors, such as the type of cancer, ethnicity, source of control, and sample size on these associations.
Topics: Humans; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Head and Neck Neoplasms; Genotype; Carcinoma; Case-Control Studies; Xeroderma Pigmentosum Group A Protein
PubMed: 38541204
DOI: 10.3390/medicina60030478 -
Journal of Integrative Neuroscience Mar 2024Single-nucleotide polymorphisms (SNPs) in the proprotein convertase subtilisin/kexin type 9 () gene are known to be associated with susceptibility to several... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Single-nucleotide polymorphisms (SNPs) in the proprotein convertase subtilisin/kexin type 9 () gene are known to be associated with susceptibility to several cerebrovascular diseases, including ischemic stroke (IS). The aims of this study was to evaluate associations between gene polymorphisms and the risk of IS. Based on previous reports linking PCSK9 SNPs to plasma lipid levels and to atherosclerosis, and to inconsistencies in the reported associations between the SNPs, plasma lipid levels and IS risk, we choose the rs505151, rs529787, and rs17111503 to performe the association analysis.
METHODS
Using multiple databases, all relevant case-control and cohort studies that matched our search criteria were collected. Quality assessment of included studies was performed using the Newcastle-Ottawa Scale. Demographic and genotype data were extracted from each study, and meta-analysis was performed using Stata/MP 17.0. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using fixed and random effects models.
RESULTS
A critical evaluation was conducted on ten case-control studies, involving a total of 2426 cases and 2424 controls. Pooled results from the allelic models indicated the rs505151 G allele (OR: 1.41, 95% CI: 1.06-1.87, = 0.019, I2 = 53.9%) and the rs17111503 A allele (OR: 1.38, 95% CI: 1.22-1.55, < 0.001, I2 = 43.5%) were significantly associated with IS. Study qualities ranged from moderate (n = 4) to good (n = 6). Begg's and Egger's tests results indicated there was no evidence of publication bias in the findings ( > 0.05).
CONCLUSIONS
This meta-analysis demonstrated that G allele variant of rs505151 and A allele variant of rs17111503 were associated with an increased risk of IS. Based on our findings, these SNPs could serve as potential targets for the diagnosis and treatment of IS. The integration of information on genetic polymorphism into IS risk prediction model may be beneficial in routine clinical practice.
Topics: Humans; Ischemic Stroke; Lipids; Polymorphism, Single Nucleotide; Proprotein Convertase 9
PubMed: 38538222
DOI: 10.31083/j.jin2303062 -
Current Issues in Molecular Biology Mar 2024Subjective cognitive decline (SCD) has been described as a probable early stage of dementia, as it has consistently appeared to precede the onset of objective cognitive... (Review)
Review
Subjective cognitive decline (SCD) has been described as a probable early stage of dementia, as it has consistently appeared to precede the onset of objective cognitive impairment. SCD is related to many risk factors, including genetic predisposition for dementia. The Apolipoprotein (APOE) ε4 allele, which has been thoroughly studied, seems to explain genetic risk for SCD only partially. Therefore, we aimed to summarize existing data regarding genetic factors related to SCD, beyond APOE ε4, in order to improve our current understanding of SCD. We conducted a PRISMA systematic search in PubMed/MEDLINE and Embase databases using the keywords "subjective cognitive decline" and "genetic predisposition" with specific inclusion and exclusion criteria. From the 270 articles identified, 16 were finally included for the qualitative analysis. Family history of Alzheimer's disease (AD) in regard to SCD was explored in eight studies, with conflicting results. Other genes implicated in SCD, beyond APOE ε4, were investigated in six studies, which were not strong enough to provide clear conclusions. Very few data have been published regarding the association of polygenic risk for AD and SCD. Thus, many more genes related to AD must be studied, with polygenic risk scores appearing to be really promising for future investigation.
PubMed: 38534745
DOI: 10.3390/cimb46030129 -
International Journal of... 2024The impact of interleukin-10 (IL-10) gene promoter polymorphisms (SNPs) on treatment response in HCV patients was dissimilarly estimated. Hence, the aim of this... (Meta-Analysis)
Meta-Analysis
The impact of interleukin-10 (IL-10) gene promoter polymorphisms (SNPs) on treatment response in HCV patients was dissimilarly estimated. Hence, the aim of this meta-analysis was to robustly assess the effect of IL-10 SNPs on treatment response in HCV patients. An electronic literature search was carried out through PubMed, EMBASE, Web of science, and Scopus databases. Studies assessing the association between IL-10 polymorphisms and treatment response in HCV patients were included. Studies were excluded if genotype frequencies are not consistent with the Hardy-Weinberg Equilibrium (HWE) or in case of including patients with hepatitis B virus coinfection. Risk of bias in included studies was assessed using the Newcastle-Ottawa Scale. Meta-analyses were performed for the influence of IL-10 gene promoter SNPs (rs1800896 (-1082 A/G), rs1800871 (-819 C/T), and rs1800872 (-592 C/T)) and haplotypes on treatment response in HCV patients. Subgroup analyses, meta-regressions, publication bias assessment, and sensitivity analyses were also conducted. Overall, 32 studies with a total of 5943 HCV cases and 2697 controls were included in the present study. The -1082*G allele was significantly associated with increased risk of non-response (NR) to treatment, OR [95% CI] = 1.29 [1.1-1.51], = .002. Besides, the rs1800872 -592*C allele was significantly associated with increased NR risk, OR [95% CI] = 1.22 [1.02-1.46], = .03. Subgroup analysis showed that this association remained significant only in patients treated with PEG-IFN alone, = .01. The -1082*G/-819*C/-592*C (GCC) haplotype was significantly associated with increased NR risk, OR [95% CI] = 1.62 [1.13-2.23], = .009. Our results suggest that the IL-10 rs1800896 was associated with NR risk especially in North-African and Asian populations. Moreover, the IL-10 gene promoter -1082*G/-819*C/-592*C (GCC) haplotype which has been associated with higher production of IL-10, was significantly associated with increased NR risk.
Topics: Humans; Genetic Predisposition to Disease; Genotype; Hepatitis C; Interleukin-10; Polymorphism, Single Nucleotide; Promoter Regions, Genetic
PubMed: 38520313
DOI: 10.1177/03946320241240705 -
Lancet Regional Health. Americas Apr 2024In Latin America and the Caribbean (LAC), there are 85 million people with disabilities (PwD). They often experience barriers accessing healthcare and die, on average,... (Review)
Review
In Latin America and the Caribbean (LAC), there are 85 million people with disabilities (PwD). They often experience barriers accessing healthcare and die, on average, 10-20 years earlier than those without disabilities. This study aimed to systematically review the quantitative literature on access to general healthcare among PwD, compared to those without disabilities, in LAC. A systematic review and narrative synthesis was conducted. We searched in EMBASE, MEDLINE, LILACS, MedCarib, PsycINFO, SciELO, CINAHL, and Web of Science. Eligible articles were peer-reviewed, published between January 2000 and April 2023, and compared healthcare access (utilization, coverage, quality, affordability) between PwD and without disabilities in LAC. The search retrieved 16,538 records and 30 studies were included, most of which had a medium or high risk of bias (n = 23; 76%). Overall, the studies indicated that PwD use healthcare services more than those without disabilities. Some evidence indicated that women with disabilities were less likely to have received cancer screening. Limited evidence showed that health services affordability and quality were lower among PwD. In LAC, PwD appear to experience health inequities, although large gaps exist in the current evidence. Harmonization of disability and health access data collection is urgently needed to address this issue.
PubMed: 38495313
DOI: 10.1016/j.lana.2024.100701 -
Frontiers in Genetics 2024Lung cancer is a crucial global issue, with more than one million deaths annually. While smoking is considered the main etiology of the disease, several genetic variants...
Lung cancer is a crucial global issue, with more than one million deaths annually. While smoking is considered the main etiology of the disease, several genetic variants are associated with it. Alterations in vitamin D pathway genes have also been studied in regards to lung cancer, but the findings have been inconclusive. We here present a systematic review and meta-analysis of seven genes in this pathway: , , , , , , and . Four databases (PubMed, Scopus, Cochrane Library, and Web of Science (WOS) databases) were searched. From these, 16 eligible case-control studies comprising 6,206 lung cancer cases and 7,272 health controls were obtained. These studies were subjected to comprehensive data extraction and quality scoring, and the pooled odds ratio with a 95% confidence interval was calculated to estimate the effect of each variant along with heterogeneity analysis and a risk of bias assessment. Our meta-analysis revealed an association between (rs2740574) and lung cancer in the allelic, heterozygous, and dominant models. In addition, both (Fok1: rs2228570) and (Cdx-2: rs11568820) displayed a protective role in lung cancer development in the heterozygous and dominant models. Furthermore, (Taq1: rs731236) showed a decreased risk of lung cancer in the allelic, homozygous, and recessive models. Similarly, (BsmI: rs1544410) had a positive effect on lung cancer risk when subjected to allelic and recessive models. Our meta-analysis revealed the lack of association of (rs10741657), (rs3782130), (rs10877012), (rs6068816), (rs4809960), (rs776746), (rs7041), (rs4588), and (ApaI: rs7975232) with lung cancer. Our work revealed that (rs2740574) can represent an independent risk factor for lung cancer. This conclusion can aid better personalized medicine for lung cancer management, while further assessment for genetic variants of , , , , and is still required to address more robust evidence.
PubMed: 38482381
DOI: 10.3389/fgene.2024.1302527 -
Heliyon Mar 2024The purpose of this systematic review and meta-analysis was to summarize the available scientific evidence on the prevalence of colistin-resistant strains isolated from...
The purpose of this systematic review and meta-analysis was to summarize the available scientific evidence on the prevalence of colistin-resistant strains isolated from foods and food-producing animals, the mobile colistin-resistant genes involved, and the impact of the associated variables. A systematic review was carried out in databases according to selection criteria and search strategies established . Random-effect meta-analysis models were fitted to estimate the prevalence of colistin-resistant and to identify the factors associated with the outcome. In general, 4.79% (95% CI: 3.98%-5.76%) of the food and food-producing animal samples harbored colistin-resistant , while 5.70% (95% confidence interval: 4.97%-6.52%) of the strains isolated from food and food-producing animal samples harbored colistin resistance (total number of colistin-resistant /total number of isolated samples). The prevalence of colistin-resistant increased over time ( < 0.001). On the other hand, 65.30% (95% confidence interval: 57.77%-72.14%) of colistin resistance was mediated by the gene. The gene prevalence did not show increases over time ( = 0.640). According to the findings, other allelic variants ( genes) seem to have less impact on prevalence. A higher prevalence of colistin resistance was estimated in developing countries ( < 0.001), especially in samples (feces and intestinal content, meat, and viscera) derived from poultry and pigs ( < 0.001). The gene showed a global distribution with a high prevalence in most of the regions analyzed (>50%). The prevalence of colistin-resistant and the gene has a strong impact on the entire food chain. The high prevalence estimated in the retail market represents a potential risk for consumers' health. There is an urgent need to implement based-evidence risk management measures under the "One Health" approach to guarantee public health, food safety, and a sustainable future.
PubMed: 38434325
DOI: 10.1016/j.heliyon.2024.e26579 -
Medicine Mar 2024Benign prostatic hyperplasia (BPH) is one of the global public health challenges due to the complexity of its mechanisms of occurrence. Many studies have suggested that... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Benign prostatic hyperplasia (BPH) is one of the global public health challenges due to the complexity of its mechanisms of occurrence. Many studies have suggested that vitamin D receptor gene polymorphisms are associated with BPH susceptibility. Still, their conflicting findings need to be analyzed in aggregate to gain a better understanding.
METHODS
We identified 10 trials involving 1539 BPH cases and 1915 controls through a systematic search of Embase using, data obtained from the Web of Science, PubMed, and China Knowledge Network databases as of December 31, 2021. A meta-analysis was performed to investigate the association between 4 constant polymorphisms of this associated vitamin D receptor gene (Fok-1, Bsm-1, Taq-1, and Apa-1) and BPH risk.
RESULTS
In the overall population analysis, a significant positive association with BPH risk was found only in the Taq-1 variant (P < .001). Of these, the pure-hybrid model (95% confidence interval [CI] = 1.384-3.196), the heterozygous model (95% CI = 1.207-2.021), the dominant model (95% CI = 1.312-2.133) and the allelic inheritance model (95% CI = 1.205-1.730) showed low heterogeneity. In subtype analyses, Bsm-1 variants showed a significant association with BPH risk for both the recessive (95% CI = 0.100-0.943, P = .039) and over-dominant (95% CI = 1.553-3.100, P = 0) models in the Caucasian population, and for the recessive (95% CI = 1.242-3.283, P = .039) and over-dominant (95% CI = 0.281-0.680, P = 0) models in the Asian population. In addition, a high degree of heterogeneity was found in the subgroup analysis of the association between Fok-1 variants and BPH risk.
CONCLUSION
Overall, there is an association between vitamin D receptor polymorphisms and BPH risk. Identification of BPH susceptibility by vitamin D receptor gene polymorphisms has potential.
Topics: Humans; Male; Genetic Predisposition to Disease; Heterozygote; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Prostatic Hyperplasia; Receptors, Calcitriol
PubMed: 38428858
DOI: 10.1097/MD.0000000000037361 -
BMJ Global Health Feb 2024Limited information on costs and the cost-effectiveness of hospital interventions to reduce antibiotic resistance (ABR) hinder efficient resource allocation.
Costs-effectiveness and cost components of pharmaceutical and non-pharmaceutical interventions affecting antibiotic resistance outcomes in hospital patients: a systematic literature review.
INTRODUCTION
Limited information on costs and the cost-effectiveness of hospital interventions to reduce antibiotic resistance (ABR) hinder efficient resource allocation.
METHODS
We conducted a systematic literature review for studies evaluating the costs and cost-effectiveness of pharmaceutical and non-pharmaceutical interventions aimed at reducing, monitoring and controlling ABR in patients. Articles published until 12 December 2023 were explored using EconLit, EMBASE and PubMed. We focused on critical or high-priority bacteria, as defined by the WHO, and intervention costs and incremental cost-effectiveness ratio (ICER). Following Preferred Reporting Items for Systematic review and Meta-Analysis guidelines, we extracted unit costs, ICERs and essential study information including country, intervention, bacteria-drug combination, discount rates, type of model and outcomes. Costs were reported in 2022 US dollars ($), adopting the healthcare system perspective. Country willingness-to-pay (WTP) thresholds from Woods 2016 guided cost-effectiveness assessments. We assessed the studies reporting checklist using Drummond's method.
RESULTS
Among 20 958 articles, 59 (32 pharmaceutical and 27 non-pharmaceutical interventions) met the inclusion criteria. Non-pharmaceutical interventions, such as hygiene measures, had unit costs as low as $1 per patient, contrasting with generally higher pharmaceutical intervention costs. Several studies found that linezolid-based treatments for methicillin-resistant were cost-effective compared with vancomycin (ICER up to $21 488 per treatment success, all 16 studies' ICERs
CONCLUSION
Robust information on ABR interventions is critical for efficient resource allocation. We highlight cost-effective strategies for mitigating ABR in hospitals, emphasising substantial knowledge gaps, especially in low-income and middle-income countries. Our study serves as a resource for guiding future cost-effectiveness study design and analyses. CRD42020341827 and CRD42022340064.
Topics: Humans; Methicillin-Resistant Staphylococcus aureus; Checklist; Drug Resistance, Microbial; Hospitals; Pharmaceutical Preparations
PubMed: 38423548
DOI: 10.1136/bmjgh-2023-013205