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Andrology Mar 2021The impact of human papillomavirus (HPV) on male fertility and associated reproductive outcomes has not been clarified. (Meta-Analysis)
Meta-Analysis
BACKGROUND
The impact of human papillomavirus (HPV) on male fertility and associated reproductive outcomes has not been clarified.
OBJECTIVES
To elucidate the prevalence of seminal HPV infection and assess the associated effects on seminal parameters, male infertility, and reproductive outcomes.
MATERIALS AND METHODS
A systematic review and meta-analysis was performed in accordance with PRISMA guidelines. A search was performed using PubMed, MEDLINE, SCOPUS, and Cochrane databases. Studies published until November 2019 were included. HPV prevalence, risk of infertility, seminal parameters, and reproductive outcomes were evaluated among the general population and infertile men.
RESULTS
Fifty studies met the inclusion criteria. The prevalence of seminal HPV infection is significantly higher in infertile compared to the general population (20.9% versus 8.2%). A significant association between seminal HPV infection and male infertility (OR 3.30, 95% CI 1.87-5.84), even when adjusting for female infertility (OR 3.02, 95% CI = 2.11-4.33) was founded. In addition, HPV infection is related to a significant decrease in progressive motility (DM -10.35, IC -13.75, -6.96), a low sperm morphology score (DM -2.46, 95% CI -3.83, -1.08), and a significant increase in the sperm DNA fragmentation index (7.24, 95% CI 4.44.10.03) compared with HPV-negative patients. It was also observed an increased risk of miscarriage (OR 5.13, 95% CI 2.40,10.94), and a reduced chance of ongoing pregnancy (OR 0.33, IC 95% 0.13,0,82) in patients undergoing ART with seminal HPV infection.
DISCUSSION
Infertile men have a higher prevalence of seminal HPV infection compared to the general population, regardless of the HPV genotype detected.
CONCLUSIONS
HPV in semen may have an impact in sperm quality and reproductive outcomes. Additional well-designed studies are warranted to improve the quality of evidence.
Topics: Alphapapillomavirus; Condylomata Acuminata; Cross-Sectional Studies; Female; Humans; Infertility, Male; Male; Papillomavirus Infections; Pregnancy; Pregnancy Outcome; Reproduction; Semen; Sperm Motility
PubMed: 33220146
DOI: 10.1111/andr.12948 -
Pharmacogenomics Jun 2023Examining the association between alleles and different carbamazepine (CBZ)-induced cutaneous adverse reactions in the Chinese population. A systematic review and... (Meta-Analysis)
Meta-Analysis
Examining the association between alleles and different carbamazepine (CBZ)-induced cutaneous adverse reactions in the Chinese population. A systematic review and meta-analysis of case-control studies was conducted. A systematic search was conducted of PubMed, Embase, the Cochrane Library, National Knowledge Infrastructure, the Chinese Biomedical Literature database and Wanfang Digital Periodicals. 23 studies with a total of 1174 patients were included. In the Han population, is significantly associated with the increased risk of CBZ-related Stevens-Johnson syndrome/toxic epidermal necrolysis, and this correlation was not related to geographic distribution. , are associated with CBZ-related maculopapular eruption in South Han population. is associated with CBZ-DRESS in Taiwan Han population. and genes were found to be involved in the occurrence of CBZ cutaneous adverse reactions in Han Chinese.
Topics: Humans; Carbamazepine; Anticonvulsants; East Asian People; HLA-B Antigens; Stevens-Johnson Syndrome; HLA-A Antigens
PubMed: 37503628
DOI: 10.2217/pgs-2023-0054 -
Progress in Neurobiology Oct 2014Obsessive-compulsive disorder (OCD) occurs in ∼1-3% of the general population, and its often rather early onset causes major disabilities in the everyday lives of... (Review)
Review
Obsessive-compulsive disorder (OCD) occurs in ∼1-3% of the general population, and its often rather early onset causes major disabilities in the everyday lives of patients. Although the heritability of OCD is between 35 and 65%, many linkage, association, and genome-wide association studies have failed to identify single genes that exhibit high effect sizes. Several neuroimaging studies have revealed structural and functional alterations mainly in cortico-striato-thalamic loops. However, there is also marked heterogeneity across studies. These inconsistencies in genetic and neuroimaging studies may be due to the heterogeneous and complex phenotypes of OCD. Under the consideration that genetic variants may also influence neuroimaging in OCD, researchers have started to combine both domains in the field of imaging genetics. Here, we conducted a systematic search of PubMed and Google Scholar literature for articles that address genetic imaging in OCD and related disorders (published through March 2014). We selected 8 publications that describe the combination of imaging genetics with OCD, and extended it with 43 publications of comorbid psychiatric disorders. The most promising findings of this systematic review point to the involvement of variants in genes involved in the serotonergic (5-HTTLPR, HTR2A), dopaminergic (COMT, DAT), and glutamatergic (SLC1A1, SAPAP) systems. However, the field of imaging genetics must be further explored, best through investigations that combine multimodal imaging techniques with genetic profiling, particularly profiling techniques that employ polygenetic approaches, with much larger sample sizes than have been used up to now.
Topics: Databases, Bibliographic; Genetic Linkage; Humans; Neuroimaging; Obsessive-Compulsive Disorder
PubMed: 25046835
DOI: 10.1016/j.pneurobio.2014.07.003 -
Clinical Infectious Diseases : An... Sep 2022Rare cases of thrombosis and thrombocytopenia (thrombosis with thrombocytopenia syndrome [TTS]) have been associated with 2 coronavirus disease 2019 adenovirus vector... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Rare cases of thrombosis and thrombocytopenia (thrombosis with thrombocytopenia syndrome [TTS]) have been associated with 2 coronavirus disease 2019 adenovirus vector vaccines: the ChAdOx1 nCoV-19 Vaxzevria vaccine (Oxford/AstraZeneca) and the JNJ-7836735 Johnson & Johnson vaccine (Janssen). It is unknown if TTS is a class-mediated effect of adenovirus-based vaccines or if it could worsen known hypercoagulable states. Since most cases of TTS happen in women of childbearing age, pregnancy is a crucial risk factor to assess. Understanding these risks is important for advising vaccine recipients and future adenovirus vector vaccine development.
METHODS
To explore the potential associations of adenovirus-based vaccine components with symptoms of TTS in the general clinical trial population and in pregnant women in clinical trials, we conducted a systematic review and meta-analysis of adenovirus-based vector vaccines to document cases of thrombocytopenia, coagulopathy, and or pregnancy from 1 January 1966 to 9 August 2021.
RESULTS
We found 167 articles from 159 studies of adenovirus vector-based vaccines, 123 of which targeted infectious diseases. In the general population, 20 studies reported an event of thrombocytopenia and 20 studies indicated some coagulopathy. Among pregnant women, of the 28 studies that reported a total of 1731 pregnant women, thrombocytopenia or coagulopathy were not reported.
CONCLUSIONS
In this systematic review and meta-analysis, there was no class-wide effect of adenovirus vector vaccines toward thrombocytopenia or coagulopathy events in the general population or in pregnant women.
Topics: Adenoviridae; Adenovirus Vaccines; COVID-19; ChAdOx1 nCoV-19; Female; Humans; Pregnancy; Thrombocytopenia; Thrombosis; Vaccines
PubMed: 35134164
DOI: 10.1093/cid/ciac080 -
Circulation Jan 2024Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy and is classically caused by pathogenic or likely pathogenic variants... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy and is classically caused by pathogenic or likely pathogenic variants (P/LP) in genes encoding sarcomere proteins. Not all subclinical variant carriers will manifest clinically overt disease because penetrance (proportion of sarcomere or sarcomere-related P/LP variant carriers who develop disease) is variable, age dependent, and not reliably predicted.
METHODS
A systematic search of the literature was performed. We used random-effects generalized linear mixed model meta-analyses to contrast the cross-sectional prevalence and penetrance of sarcomere or sarcomere-related genes in 2 different contexts: clinically-based studies on patients and families with HCM versus population or community-based studies. Longitudinal family/clinical studies were additionally analyzed to investigate the rate of phenotypic conversion from subclinical to overt HCM during follow-up.
RESULTS
In total, 455 full-text manuscripts and articles were assessed. In family/clinical studies, the prevalence of sarcomere variants in patients diagnosed with HCM was 34%. The penetrance across all genes in nonproband relatives carrying P/LP variants identified during cascade screening was 57% (95% CI, 52%-63%), and the mean age at HCM diagnosis was 38 years (95% CI, 36%-40%). Penetrance varied from ≈32% for (myosin light chain 3) to ≈55% for (myosin-binding protein C3), ≈60% for (troponin T2) and (troponin I3), and ≈65% for (myosin heavy chain 7). Population-based genetic studies demonstrate that P/LP sarcomere variants are present in the background population but at a low prevalence of <1%. The penetrance of HCM in incidentally identified P/LP variant carriers was also substantially lower at ≈11%, ranging from 0% in Atherosclerosis Risk in Communities to 18% in UK Biobank. In longitudinal family studies, the pooled phenotypic conversion across all genes was 15% over an average of ≈8 years of follow-up, starting from a mean of ≈16 years of age. However, short-term gene-specific phenotypic conversion varied between ≈12% for and ≈23% for .
CONCLUSIONS
The penetrance of P/LP variants is highly variable and influenced by currently undefined and context-dependent genetic and environmental factors. Additional longitudinal studies are needed to improve our understanding of true lifetime penetrance in families and in the community and to identify drivers of the transition from subclinical to overt HCM.
Topics: Humans; Adult; Penetrance; Mutation; Cross-Sectional Studies; Pedigree; Cardiomyopathy, Hypertrophic; Troponin T
PubMed: 37929589
DOI: 10.1161/CIRCULATIONAHA.123.065987 -
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 -
Journal of Cancer Research and Clinical... Jul 2015The aim of our study is to provide a precise quantification for the association between DNA methyltransferase 3B (DNMT3B) variations (rs2424913 C/T, rs1569686 G/T,... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
The aim of our study is to provide a precise quantification for the association between DNA methyltransferase 3B (DNMT3B) variations (rs2424913 C/T, rs1569686 G/T, rs6087990 T/C and rs2424908 T/C) and the risk of cancer.
METHODS
We performed a systematic literature review and assessed the methodological quality of included case-control designed studies based on Newcastle-Ottawa Scale. Pooled odds ratios (ORs) and corresponding 95% confidence intervals (95% CIs) were calculated to assess the strengths of the associations.
RESULTS
We identified 34 studies for pooled analyses. Overall, the results demonstrated that rs2424913 polymorphism was significantly associated with negative cancer risk in the African population (CT vs TT: OR 0.10, 95% CI 0.02-0.63, P = 0.01; CT+CC vs TT: OR 0.14, 95% CI 0.03-0.76, P = 0.02), and the rs1569686 polymorphism was significantly associated with a subtly decreased cancer risk (GT vs TT: OR 0.80, 95% CI 0.72-0.90, P < 0.01; GT+GG vs TT: OR 0.84, 95% CI 0.76-0.94, P < 0.01), particularly in the Asian population (GT vs TT: OR 0.79, 95% CI 0.66-0.96, P < 0.01) and in colorectal cancer subgroup (G vs T: OR 0.69, 95% CI 0.54-0.88, P < 0.01). In addition, the rs6087990 polymorphism was associated with decreased risk in Asian population (T vs C: OR 0.77, 95% CI 0.62-0.96, P = 0.02). Similarly, the rs2424908 polymorphism was observed as a protective factor for cancer in the Asian population (CT+CC vs TT: OR 0.79, 95% CI 0.66-0.95, P = 0.01).
CONCLUSIONS
DNMT3B polymorphisms might be associated with decreased cancer risk especially in the Asian population and for colorectal cancer. Further multicentric studies are still needed to confirm the results.
Topics: Asian People; Case-Control Studies; DNA (Cytosine-5-)-Methyltransferases; Gene Frequency; Genetic Association Studies; Genetic Heterogeneity; Genetic Predisposition to Disease; Humans; Neoplasms; Odds Ratio; Polymorphism, Single Nucleotide; Risk; DNA Methyltransferase 3B
PubMed: 25515408
DOI: 10.1007/s00432-014-1894-x -
Nutrients Jun 2023Diabetes and obesity are chronic diseases that are a burden to low- and middle-income countries. We conducted this systematic review to understand gene-diet interactions... (Review)
Review
Diabetes and obesity are chronic diseases that are a burden to low- and middle-income countries. We conducted this systematic review to understand gene-diet interactions affecting the Southeast Asian population's risk of obesity and diabetes. The literature search was performed on Google Scholar and MEDLINE (PubMed) search engines independently by four reviewers who evaluated the eligibility of articles based on inclusion criteria. Out of 19,031 articles, 20 articles examining gene-diet interactions on obesity and/or diabetes-related traits met the inclusion criteria. Three (Malaysia, Indonesia, and Singapore) out of eleven Association of Southeast Asian Nations (ASEAN) countries have conducted studies on gene-diet interactions on obesity and diabetes. From the 20 selected articles, the most common interactions were observed between macronutrients and genetic risk score (GRS) on metabolic disease-related traits in the Malay, Chinese, and Indian ethnicities. Overall, we identified 29 significant gene-diet interactions in the Southeast Asian population. The results of this systematic review demonstrate ethnic-specific gene-nutrient interactions on metabolic-disease-related traits in the Southeast Asian population. This is the first systematic review to explore gene-diet interactions on obesity and diabetes in the Southeast Asian population and further research using larger sample sizes is required for better understanding and framing nutrigenetic approaches for personalized nutrition.
Topics: Humans; Asia, Southeastern; Diet; Obesity; Singapore; Southeast Asian People; Diabetes Mellitus
PubMed: 37447274
DOI: 10.3390/nu15132948 -
Drug Metabolism Letters 2021Cytochrome P450 (CYP) contributes to a huge collection of medicinal products' Phase I metabolization. We aimed to summarize and investigate the current evidence...
BACKGROUND
Cytochrome P450 (CYP) contributes to a huge collection of medicinal products' Phase I metabolization. We aimed to summarize and investigate the current evidence regarding the frequency of CYP2D6, CYP2C9, CYP2C19, and MDR1 in Saudi Arabia.
METHODS
A computerized search in four databases was done using the relevant keywords. The screening process was done in two steps; title and abstract screening and full-text screening. Data of demographic and characteristics of included studies and patients were extracted and tabulated.
RESULTS
Ten studies were eligible for our criteria and were included in this systematic review. The age of participants ranged between 17-65 years. Only two subjects showed PM phenotype of CYP2C19 in the Saudi population. The most frequent alleles were CYP2C19*1 (62.9%), CYP2C19*2 (11.2%-32%), and CYP2C19*17 (25.7%). The CYP2C19 was observed in 97 cases of extensive metabolizing (EM) phenotype CYP2C19. Concerning the CYP2C9, the most frequent alleles were CYP2C9*1 and CYP2C9*2, and the most frequent genotype was CYP2C9*1*1. The CYP2D6*41 allele and C1236T MDR1 were the most frequent allele in this population.
CONCLUSION
The current evidence suggests that Saudi resembled European in the frequency of CYP2C19, Caucasians in both the incidence of CYP2C9 and CYP2C19, and the absence of CYP2C19. The CYP2D6*41 allele frequency in Saudi is relatively high. We recommend further research to evaluate the basic and clinical relevance of gene polymorphism in such ethnicity.
Topics: ATP Binding Cassette Transporter, Subfamily B; Adolescent; Adult; Aged; Cytochrome P-450 CYP2C19; Cytochrome P-450 CYP2C9; Cytochrome P-450 CYP2D6; Cytochrome P-450 Enzyme System; Gene Frequency; Genetics, Population; Genotype; Humans; Middle Aged; Polymorphism, Genetic; Saudi Arabia; Young Adult
PubMed: 32703145
DOI: 10.2174/1872312814666200722122232 -
Frontiers in Immunology 2023Graves' disease (GD) and Graves' orbitopathy (GO) development were suspected to be HLA-related in both Asian and Caucasian populations. However, most studies were...
INTRODUCTION
Graves' disease (GD) and Graves' orbitopathy (GO) development were suspected to be HLA-related in both Asian and Caucasian populations. However, most studies were performed with application of serological methods or low resolution genetic typing, which led to inconsistent results even among the same population. The present review is intended to summarize the state-of-art knowledge on the HLA significance in GD and GO in Asians and Caucasians, as well as to find the most significant alleles for each of the populations.
METHODS
PubMed was searched for relevant articles using the following search terms: HLA plus thyroid-associated ophthalmopathy or Graves' disease or Graves' orbitopathy or thyroid eye disease or thyroid-associated orbitopathy.
RESULTS
In Asian population GD was found to be associated mostly with , , , , , and , while , , are potentially protective. can be considered associated with increased risk of GO in Asians, while may play protective role. In Caucasians, , , are associated with GD risk while , may be protective. Significance of HLA in the course of GD and novel aspects of HLA amino acid variants and potential HLA-based treatment modalities were also discussed.
Topics: Humans; Graves Ophthalmopathy; HLA-DQ Antigens; HLA-DRB1 Chains; Haplotypes; Graves Disease; HLA-B Antigens
PubMed: 37841270
DOI: 10.3389/fimmu.2023.1256922