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Gynecologic Oncology Oct 2023Approximately 20% of ovarian cancers are due to an underlying germline pathogenic variant. While pathogenic variants in several genes have been well-established in the... (Review)
Review
OBJECTIVE
Approximately 20% of ovarian cancers are due to an underlying germline pathogenic variant. While pathogenic variants in several genes have been well-established in the development of hereditary ovarian cancer (e.g. BRCA1/2, RAD51C, RAD51D, BRIP1, mismatch repair genes), the role of partner and localizer of BRCA2 (PALB2) remains uncertain. We sought to utilize meta-analysis to evaluate the association between PALB2 germline pathogenic variants and ovarian cancer.
METHODS
We conducted a systematic review and meta-analysis. We searched key electronic databases to identify studies evaluating multigene panel testing in people with ovarian cancer. Eligible trials were subjected to meta-analysis.
RESULTS
Fifty-five studies met inclusion criteria, including 48,194 people with ovarian cancer and information available on germline PALB2 pathogenic variant status. Among people with ovarian cancer and available PALB2 sequencing data, 0.4% [95% CI 0.3-0.4] harbored a germline pathogenic variant in the PALB2 gene. The pooled odds ratio (OR) for carrying a PALB2 pathogenic variant among the ovarian cancer population of 20,474 individuals who underwent germline testing was 2.48 [95% CI 1.57-3.90] relative to 123,883 controls.
CONCLUSIONS
Our meta-analysis demonstrates that the pooled OR for harboring a PALB2 germline pathogenic variant among people with ovarian cancer compared to the general population is 2.48 [95% CI 1.57-3.90]. Prospective studies evaluating the role of germline PALB2 pathogenic variants in the development of ovarian cancer are warranted.
PubMed: 37651980
DOI: 10.1016/j.ygyno.2023.07.017 -
Biological Reviews of the Cambridge... Aug 2017The grey wolf (Canis lupus) is an iconic large carnivore that has increasingly been recognized as an apex predator with intrinsic value and a keystone species. However,... (Meta-Analysis)
Meta-Analysis Review
The grey wolf (Canis lupus) is an iconic large carnivore that has increasingly been recognized as an apex predator with intrinsic value and a keystone species. However, wolves have also long represented a primary source of human-carnivore conflict, which has led to long-term persecution of wolves, resulting in a significant decrease in their numbers, genetic diversity and gene flow between populations. For more effective protection and management of wolf populations in Europe, robust scientific evidence is crucial. This review serves as an analytical summary of the main findings from wolf population genetic studies in Europe, covering major studies from the 'pre-genomic era' and the first insights of the 'genomics era'. We analyse, summarize and discuss findings derived from analyses of three compartments of the mammalian genome with different inheritance modes: maternal (mitochondrial DNA), paternal (Y chromosome) and biparental [autosomal microsatellites and single nucleotide polymorphisms (SNPs)]. To describe large-scale trends and patterns of genetic variation in European wolf populations, we conducted a meta-analysis based on the results of previous microsatellite studies and also included new data, covering all 19 European countries for which wolf genetic information is available: Norway, Sweden, Finland, Estonia, Latvia, Lithuania, Poland, Czech Republic, Slovakia, Germany, Belarus, Russia, Italy, Croatia, Bulgaria, Bosnia and Herzegovina, Greece, Spain and Portugal. We compared different indices of genetic diversity in wolf populations and found a significant spatial trend in heterozygosity across Europe from south-west (lowest genetic diversity) to north-east (highest). The range of spatial autocorrelation calculated on the basis of three characteristics of genetic diversity was 650-850 km, suggesting that the genetic diversity of a given wolf population can be influenced by populations up to 850 km away. As an important outcome of this synthesis, we discuss the most pressing issues threatening wolf populations in Europe, highlight important gaps in current knowledge, suggest solutions to overcome these limitations, and provide recommendations for science-based wolf conservation and management at regional and Europe-wide scales.
Topics: Animals; Conservation of Natural Resources; Europe; Genetic Variation; Genetics, Population; Microsatellite Repeats; Wolves
PubMed: 27682639
DOI: 10.1111/brv.12298 -
Giornale Italiano Di Dermatologia E... Jun 2017Melanoma is responsible for the greatest number of deaths caused by skin malignancies. The purpose of monitoring patients diagnosed with melanoma is to allow early... (Review)
Review
Melanoma is responsible for the greatest number of deaths caused by skin malignancies. The purpose of monitoring patients diagnosed with melanoma is to allow early detection of recurrence and any subsequent primary tumors. Several dermatological and oncological societies developed their own set of guidelines for the surveillance and management of melanoma patients depending on the stage of the disease. The object of this article is to provide a comprehensive, systematic overview that summarizes and interprets previous studies, to characterize current practices regarding progression of melanoma, division into stages of development, and subsequent surveillance. We have performed a systematic review search to December 2016 using the MEDLINE database and performed a manual search of selected references. We examined the staging system and the different surveillance programs for melanoma patients. Consistent recommendations with proven evidence are available for staging melanoma patients. Conversely, recommendations are more controversial for follow-up procedures. Given the inadequate number of randomized controlled trials, consensus on the best, universally-applicable follow-up procedure has not been reached and interpretation of the roles of imaging and laboratory tests, as well as of the appropriate frequency and duration of physical examinations, vary widely. Based on a universally-accepted staging system different surveillance procedures have been developed, which may be mainly classified in two groups: low- and high-intensity strategies.
Topics: Biopsy; Follow-Up Studies; Humans; Melanoma; Neoplasm Staging; Population Surveillance; Skin Neoplasms
PubMed: 28195451
DOI: 10.23736/S0392-0488.17.05581-X -
Genes Jun 2024The ring finger protein 213 gene (RNF213) is involved in several vascular diseases, both intracranial and systemic ones. Some variants are common in the Asian population...
The ring finger protein 213 gene (RNF213) is involved in several vascular diseases, both intracranial and systemic ones. Some variants are common in the Asian population and are reported as a risk factor for moyamoya disease, intracranial stenosis and intracranial aneurysms. Among intracranial vascular diseases, both moyamoya disease and intracranial artery dissection are more prevalent in the Asian population. We performed a systematic review of the literature, aiming to assess the rate of RNF213 variants in patients with spontaneous intracranial dissections. Four papers were identified, providing data on 53 patients with intracranial artery dissection. The rate of RNF213 variants is 10/53 (18.9%) and it increases to 10/29 (34.5%), excluding patients with vertebral artery dissection. All patients had the RNF213 p.Arg4810Lys variant. RNF213 variants seems to be involved in intracranial dissections in Asian cohorts. The small number of patients, the inclusion of only patients of Asian descent and the small but non-negligible coexistence with moyamoya disease familiarity might be limiting factors, requiring further studies to confirm these preliminary findings and the embryological interpretation.
Topics: Humans; Adenosine Triphosphatases; Aortic Dissection; Asian People; Genetic Predisposition to Disease; Intracranial Aneurysm; Moyamoya Disease; Polymorphism, Single Nucleotide; Ubiquitin-Protein Ligases
PubMed: 38927660
DOI: 10.3390/genes15060725 -
Vaccine Sep 2022National HPV vaccination coverage in Japan is less than one percent of the eligible population and cervical cancer incidence and mortality are increasing. This... (Meta-Analysis)
Meta-Analysis
BACKGROUND
National HPV vaccination coverage in Japan is less than one percent of the eligible population and cervical cancer incidence and mortality are increasing. This systematic review and meta-analysis aimed to provide a comprehensive estimate of HPV genotype prevalence for Japan.
METHODS
English and Japanese databases were searched to March 2021 for research reporting HPV genotypes in cytology and histology samples from Japanese women. Summary estimates were calculated by disease stage from cytology only assessment - Normal, ASCUS, LSIL, HSIL and from histological assessment - CIN1, CIN2, CIN3/AIS, ICC (ICC-SCC, and ICC-ADC), and other. A random-effects meta-analysis was used to calculate summary prevalence estimates of any-HPV, high-risk (HR) and low-risk (LR) vaccine types, and vaccine genotypes (bivalent, quadrivalent, or nonavalent). This study was registered with PROSPERO: CRD42018117596.
RESULTS
A total of 57759 women with normal cytology, 1766 ASCUS, 3764 LSIL, 2017 HSIL, 3130 CIN1, 1219 CIN2, 869 CIN3/AIS, and 4306 ICC (which included 1032 ICC-SCC, and 638 ICC-ADC) were tested for HPV. The summary estimate of any-HPV genotype in women with normal cytology was 15·6% (95% CI: 12·3-19·4) and in invasive cervical cancer (ICC) was 85·6% (80·7-89·8). The prevalence of HR-HPV was 86·0% (95% CI: 73·9-94·9) for cytological cases of HSIL, 76·9% (52·1-94·7) for histological cases of CIN3/AIS, and 75·7% (68·0-82·6) for ICC. In women with ICC, the summary prevalence of bivalent vaccine genotypes was 58·5% (95% CI: 52·1-64·9), for quadrivalent genotypes was 58·6% (52·2-64·9) and for nonavalent genotypes was 71·5% (64·9-77·6), and of ICC cases that were HPV positive over 90% of infections are nonavalent vaccine preventable. There was considerable heterogeneity in all HPV summary estimates and for ICC, this heterogeneity was not explained by variability in study design, sample type, HPV assay type, or HPV DNA detection method, although studies published in the 1990s had lower prevalence estimates of any-HPV and HR HPV genotypes.
INTERPRETATIONS
HPV prevalence is high among Japanese women. The nonavalent vaccine is likely to have the greatest impact on reducing cervical cancer incidence and mortality in Japan.
Topics: Age Distribution; Alphapapillomavirus; Atypical Squamous Cells of the Cervix; DNA; Female; Genotype; Humans; Japan; Papillomaviridae; Papillomavirus Infections; Prevalence; Uterine Cervical Neoplasms; Vaccines, Combined; Uterine Cervical Dysplasia
PubMed: 36085257
DOI: 10.1016/j.vaccine.2022.07.052 -
Journal of Psychiatric Research Nov 2017Suicide is a serious worldwide health problem of critical consequences. Nowadays genetic factors are considered to be an important cause of suicide. The association... (Meta-Analysis)
Meta-Analysis Review
Suicide is a serious worldwide health problem of critical consequences. Nowadays genetic factors are considered to be an important cause of suicide. The association between Val66Met (rs6265) polymorphism of the BDNF gene and suicide behavior has been increasingly studied. The aim of this study was to perform a meta-analysis in order to unravel the possible association between BDNF gene Val66Met polymorphism and suicide behavior. These meta-analysis and systematic review were performed using 23 articles that searched for a genetic association between Val66Met and suicide behavior, including 4532 cases and 5364 control subjects. The association was analyzed following the models: allelic, homozygous, heterozygous, dominant and recessive. Also, analyses by ethnicity (Caucasian and Asian populations) were done following the same four models. When the overall population was evaluated, we found no evidence of association between the polymorphism Val66Met of BDNF (rs6265) and suicide behavior (Met vs. Val: OR: 1.01; 95% CI = 0.92-1.10). However, a significant increased risk was found in the subgroup analysis by ethnicity in Caucasian populations (Met-Met vs. Met-Val + Val-Val: OR: 1.96; 95% CI = 1.58-2.43) and Asian populations (Val-Val vs. Val-Met + Met: OR: 1.36; 95% CI = 1.04-1.78). Our results suggest there is no association between the BDNF gene Val66Met (rs6265) and suicide behavior in the overall population. However, ethnic differences can be observed and the BDNF Val66Met might increase the risk for suicide behavior in Asian and Caucasian populations. Further studies with larger samples are necessary in order to have conclusive outcomes.
Topics: Brain-Derived Neurotrophic Factor; Ethnicity; Humans; Suicide
PubMed: 28756290
DOI: 10.1016/j.jpsychires.2017.07.020 -
European Spine Journal : Official... Jan 2017To examine the association between Vitamin D receptor (VDR) gene polymorphisms and lumbar disc degeneration (LDD) predisposition. (Meta-Analysis)
Meta-Analysis Review
PURPOSE
To examine the association between Vitamin D receptor (VDR) gene polymorphisms and lumbar disc degeneration (LDD) predisposition.
METHODS
A comprehensive literature search was conducted to identify all the relevant studies. The allele/genotype frequencies were extracted from each study. We calculated the pooled odds ratios (ORs) and 95 % confidence intervals (CI) to assess the strength of the association between the VDR gene polymorphisms and LDD risk. Statistical analysis was performed using RevMan 5.31 software.
RESULTS
A total of 23 case-control studies (1835 cases and 1923 controls) were included in this systematic review. For the TaqI (rs731236), FokI (rs2228570) and ApaI (rs7975232) polymorphisms of VDR gene, nine studies, seven studies, and five studies, were eventually included in the meta-analysis, respectively. There was no evidence that the VDR gene polymorphisms (TaqI, FokI, ApaI) had significant associations with LDD risk.(for TaqI allelic comparison, OR = 1.07, 95 % CI 0.81-1.40, p = 0.64; for FokI allelic comparison, OR = 1.23, 95 % CI 0.83-1.82, p = 0.31; for ApaI allelic comparison, OR = 0.79, 95 % CI 0.55-1.14, p = 0.20). For stratified analyses by ethnicity and study design, no significant associations were found in Caucasian population and Asian population, as well as the population-based studies and hospital-based studies under all genetic models.
CONCLUSIONS
TaqI, FokI, and ApaI polymorphisms of VDR gene were not significantly associated with the predisposition of LDD. Large-scale and well-designed international studies are needed to further analyze this field.
Topics: Genetic Predisposition to Disease; Humans; Intervertebral Disc Degeneration; Polymorphism, Genetic; Receptors, Calcitriol
PubMed: 27613009
DOI: 10.1007/s00586-016-4771-2 -
Reviews in Medical Virology Sep 2023Head and neck cancer, one of the most commonly prevalent malignancies globally is a complex category of tumours that comprises cancers of the oral cavity, pharynx, and... (Review)
Review
A systematic review on the molecular and clinical association between Human Papillomavirus and Human Immunodeficiency Virus co-infection in Head, Neck and Oral squamous cell carcinoma.
Head and neck cancer, one of the most commonly prevalent malignancies globally is a complex category of tumours that comprises cancers of the oral cavity, pharynx, and larynx. A specific subgroup of such cancers has been found with some unique chromosomal, therapeutic, and epidemiologic traits with the possibility of affecting via co-infection. About 25% of all head and neck cancers in the population are human papillomavirus infection (HPV)-associated, typically developing in the oropharynx, which comprises the tonsils. In the period of efficient combined antiviral treatment, HPV-positive oral cancers are also becoming a significant contributor to illness and fatality for Human Immunodeficiency Virus (HIV)-infected persons. Although the prevalence and historical background of oral HPV transmission are not thoroughly understood, it seems likely that oral HPV transmission is relatively frequent in HIV-infected people when compared to the overall population. Therefore, there is a need to understand the mechanisms leading to this co-infection, as there is very little research related to that. Hence, this study mainly focus on the therapeutical and biomedical analysis of HPV and HIV co-infection in the above-mentioned cancer, including oral squamous cell carcinoma.
Topics: Humans; Squamous Cell Carcinoma of Head and Neck; Carcinoma, Squamous Cell; Mouth Neoplasms; Human Papillomavirus Viruses; Papillomavirus Infections; Coinfection; Head and Neck Neoplasms; HIV Infections; HIV; Papillomaviridae
PubMed: 37280764
DOI: 10.1002/rmv.2462 -
Clinical & Experimental Ophthalmology Aug 2015Single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7 and rs3753841 in COL11A1 were identified to be associated with primary angle closure glaucoma (PACG) by a... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7 and rs3753841 in COL11A1 were identified to be associated with primary angle closure glaucoma (PACG) by a recent large genome-wide association study. This present study is to evaluate the association of PLEKHA7 rs11024102 and COL11A1 rs3753841 with PACG.
DESIGN
A systematic review and meta-analysis.
PARTICIPANTS
A total of 25 271 subjects (4895 PACG patients and 20 376 controls) in different ethnicities were tested for PLEKHA7 rs11024102 and COL11A1 rs3753841.
METHODS
A comprehensive literature search was conducted on studies published up to July 2014. Summary odds ratios (ORs) and 95% confidence intervals were analysed. Publication bias of the included articles was evaluated using funnel plots and Egger's test.
MAIN OUTCOME MEASURES
OR for the effects of PLEKHA7 rs11024102 and COL11A1 rs3753841 on PACG risk.
RESULTS
Four eligible articles were included in this study for meta-analysis. The overall result showed that SNPs rs11024102 and rs3753841 were statistically associated with PACG (P < 0.001) in fixed-effects model. Stratified analyses showed that the association of PLEKHA7 rs11024102 and COL11A1 rs3753841 with PACG was statistically significant in Asian population (including South Indian cohort) (P < 0.001). In Caucasian population, significant association of COL11A1 rs3753841 with PACG was detected (P = 0.004), but PLEKHA7 rs11024102 did not show any association with PACG (P = 0.140).
CONCLUSIONS
This meta-analysis suggests that PLEKHA7 rs11024102 is associated with PACG in Asian population and COL11A1 rs3753841 has a genetic association with the development of PACG both in Caucasian and Asian populations.
Topics: Asian People; Carrier Proteins; Case-Control Studies; Collagen Type XI; Genetic Association Studies; Genetic Predisposition to Disease; Glaucoma, Angle-Closure; Humans; Odds Ratio; Polymorphism, Single Nucleotide; Risk Factors; White People
PubMed: 25732101
DOI: 10.1111/ceo.12516 -
Annals of Clinical Microbiology and... Aug 2023The emergence of multidrug-resistant (MDR) strains of genital pathogens, notably Mycoplasma genitalium and Ureaplasma spp., constitutes a significant global threat... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The emergence of multidrug-resistant (MDR) strains of genital pathogens, notably Mycoplasma genitalium and Ureaplasma spp., constitutes a significant global threat today. The present study aimed to evaluate the prevalence and trend of changes in MDR mycoplasma and ureaplasma strains.
METHODS
An exhaustive search was performed across the ISI Web of Science, PubMed, Scopus, ScienceDirect, and Google Scholar databases to accumulate relevant studies without restrictions until April 2023. We used event rate and corresponding 95% confidence intervals to determine the frequency of resistance-related mutations and examine the trend of antibiotic resistance changes.
RESULTS
The data from 27 studies, including 24,662 patients across 14 countries, were evaluated. Out of the total studies, 20 focused on M. genitalium infections, and five on Ureaplasma spp. The frequency of resistance-associated mutations to macrolides, tetracyclines, and fluoroquinolones in clinical strains of M. genitalium was 43.5%, 13.1%, and 18.6%, respectively. The prevalence of M. genitalium strains with double resistance and MDR was 11.0% and 17.4%, respectively. The incidence of both double-drug-resistant and MDR strains was higher in the World Health Organization (WHO) Western Pacific Region than in European and American populations. For Ureaplasma strains, resistance-associated mutations to macrolides, tetracyclines, and fluoroquinolones were 40.8%, 25.7%, and 90.3%, respectively. The rate of antibiotic resistance was higher in the African population compared to the European and WHO Western Pacific Regions. The rate of MDR Ureaplasma infections was 13.2%, with a higher incidence in the African population compared to the WHO Western Pacific and European regions.
CONCLUSION
The proliferation and spread of MDR Mycoplasma and Ureaplasma strains present a significant public health challenge. The situation is indeed alarming, and the rising trend of MDR M. genitalium and MDR Ureaplasma infections suggests that therapies involving macrolides and fluoroquinolones may become less effective.
Topics: Humans; Mycoplasma; Mycoplasma Infections; Ureaplasma Infections; Mycoplasma hominis; Anti-Bacterial Agents; Ureaplasma; Fluoroquinolones; Tetracyclines; Macrolides; Mutation; Prevalence
PubMed: 37563660
DOI: 10.1186/s12941-023-00627-6