scholarly journals Meta-Analysis Combining New and Existing Data Sets Confirms that the TERT–CLPTM1L Locus Influences Melanoma Risk

2012 ◽  
Vol 132 (2) ◽  
pp. 485-487 ◽  
Author(s):  
Matthew H. Law ◽  
Grant W. Montgomery ◽  
Kevin M. Brown ◽  
Nicholas G. Martin ◽  
Graham J. Mann ◽  
...  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Eleanor F. Miller ◽  
Andrea Manica

Abstract Background Today an unprecedented amount of genetic sequence data is stored in publicly available repositories. For decades now, mitochondrial DNA (mtDNA) has been the workhorse of genetic studies, and as a result, there is a large volume of mtDNA data available in these repositories for a wide range of species. Indeed, whilst whole genome sequencing is an exciting prospect for the future, for most non-model organisms’ classical markers such as mtDNA remain widely used. By compiling existing data from multiple original studies, it is possible to build powerful new datasets capable of exploring many questions in ecology, evolution and conservation biology. One key question that these data can help inform is what happened in a species’ demographic past. However, compiling data in this manner is not trivial, there are many complexities associated with data extraction, data quality and data handling. Results Here we present the mtDNAcombine package, a collection of tools developed to manage some of the major decisions associated with handling multi-study sequence data with a particular focus on preparing sequence data for Bayesian skyline plot demographic reconstructions. Conclusions There is now more genetic information available than ever before and large meta-data sets offer great opportunities to explore new and exciting avenues of research. However, compiling multi-study datasets still remains a technically challenging prospect. The mtDNAcombine package provides a pipeline to streamline the process of downloading, curating, and analysing sequence data, guiding the process of compiling data sets from the online database GenBank.


2021 ◽  
pp. 1-10
Author(s):  
Wei Qin ◽  
Wenwen Li ◽  
Qi Wang ◽  
Min Gong ◽  
Tingting Li ◽  
...  

Background: The global race-dependent association of Alzheimer’s disease (AD) and apolipoprotein E (APOE) genotype is not well understood. Transethnic analysis of APOE could clarify the role of genetics in AD risk across populations. Objective: This study aims to determine how race and APOE genotype affect the risks for AD. Methods: We performed a systematic search of PubMed, Embase, Web of Science, and the Cochrane Library since 1993 to Aug 25, 2020. A total of 10,395 reports were identified, and 133 were eligible for analysis with data on 77,402 participants. Studies contained AD clinical diagnostic and APOE genotype data. Homogeneous data sets were pooled in case-control analyses. Odds ratios and 95% confidence intervals for developing AD were calculated for populations of different races and APOE genotypes. Results: The proportion of APOE genotypes and alleles differed between populations of different races. Results showed that APOE ɛ4 was a risk factor for AD, whereas APOE ɛ2 protected against it. The effects of APOE ɛ4 and ɛ2 on AD risk were distinct in various races, they were substantially attenuated among Black people. Sub-group analysis found a higher frequency of APOE ɛ4/ɛ4 and lower frequency of APOE ɛ3/ɛ3 among early-onset AD than late-onset AD in a combined group and different races. Conclusion: Our meta-analysis suggests that the association of APOE genotypes and AD differ between races. These results enhance our understanding of APOE-related risk for AD across race backgrounds and provide new insights into precision medicine for AD.


2021 ◽  
pp. 027112142110327
Author(s):  
Esther R. Lindström ◽  
Jason C. Chow ◽  
Kathleen N. Zimmerman ◽  
Hongyang Zhao ◽  
Elise Settanni ◽  
...  

Engagement in early childhood has been linked with later achievement, but the relation between these variables and how they are measured in early childhood requires examination. We estimated the overall association between academic engagement and achievement in children prior to kindergarten entry. Our systematic literature search yielded 13,521 reports for structured eligibility screening; from this pool of studies, we identified 21 unique data sets, with 199 effect sizes for analysis. We coded eligible studies, extracted effect sizes, accounted for effect size dependency, and used random-effects models to synthesize findings. The overall correlation between academic engagement and achievement was r = .24 (range: −.08 to −.71), and moderator analyses did not significantly predict the relation between the two constructs. This study aligns with previous research on this topic and examines issues related to these measures, their constraints, and applications as they pertain to early childhood research.


2021 ◽  
Vol 11 (2) ◽  
pp. 220-226
Author(s):  
Yew-Song Cheng ◽  
Mario A. Svirsky

The presence of spiral ganglion cells (SGCs) is widely accepted to be a prerequisite for successful speech perception with a cochlear implant (CI), because SGCs provide the only known conduit between the implant electrode and the central auditory system. By extension, it has been hypothesized that the number of SGCs might be an important factor in CI outcomes. An impressive body of work has been published on findings from the laborious process of collecting temporal bones from CI users and counting the number of SGCs to correlate those numbers with speech perception scores, but the findings thus far have been conflicting. We performed a meta-analysis of all published studies with the hope that combining existing data may help us reach a more definitive conclusion about the relationship between SGC count and speech perception scores in adults.


1987 ◽  
Vol 65 (11) ◽  
pp. 2822-2824 ◽  
Author(s):  
W. A. Montevecchi ◽  
J. F. Piatt

We present evidence to indicate that dehydration of prey transported by seabirds from capture sites at sea to chicks at colonies inflates estimates of wet weight energy densities. These findings and a comparison of wet and dry weight energy densities reported in the literature emphasize the importance of (i) accurate measurement of the fresh weight and water content of prey, (ii) use of dry weight energy densities in comparisons among species, seasons, and regions, and (iii) cautious interpretation and extrapolation of existing data sets.


2002 ◽  
Vol 2 ◽  
pp. 169-189 ◽  
Author(s):  
Lawrence W. Barnthouse ◽  
Douglas G. Heimbuch ◽  
Vaughn C. Anthony ◽  
Ray W. Hilborn ◽  
Ransom A. Myers

We evaluated the impacts of entrainment and impingement at the Salem Generating Station on fish populations and communities in the Delaware Estuary. In the absence of an agreed-upon regulatory definition of “adverse environmental impact” (AEI), we developed three independent benchmarks of AEI based on observed or predicted changes that could threaten the sustainability of a population or the integrity of a community.Our benchmarks of AEI included: (1) disruption of the balanced indigenous community of fish in the vicinity of Salem (the “BIC” analysis); (2) a continued downward trend in the abundance of one or more susceptible fish species (the “Trends” analysis); and (3) occurrence of entrainment/impingement mortality sufficient, in combination with fishing mortality, to jeopardize the future sustainability of one or more populations (the “Stock Jeopardy” analysis).The BIC analysis utilized nearly 30 years of species presence/absence data collected in the immediate vicinity of Salem. The Trends analysis examined three independent data sets that document trends in the abundance of juvenile fish throughout the estuary over the past 20 years. The Stock Jeopardy analysis used two different assessment models to quantify potential long-term impacts of entrainment and impingement on susceptible fish populations. For one of these models, the compensatory capacities of the modeled species were quantified through meta-analysis of spawner-recruit data available for several hundred fish stocks.All three analyses indicated that the fish populations and communities of the Delaware Estuary are healthy and show no evidence of an adverse impact due to Salem. Although the specific models and analyses used at Salem are not applicable to every facility, we believe that a weight of evidence approach that evaluates multiple benchmarks of AEI using both retrospective and predictive methods is the best approach for assessing entrainment and impingement impacts at existing facilities.


2015 ◽  
Vol 135 (10) ◽  
pp. 2455-2463 ◽  
Author(s):  
Lanlan Yin ◽  
Sergio G. Coelho ◽  
Julio C. Valencia ◽  
Dominik Ebsen ◽  
Andre Mahns ◽  
...  

2020 ◽  
Vol 63 (3) ◽  
pp. 101-112
Author(s):  
Fatemeh Asadian ◽  
Seyed Mohammadreza Niktabar ◽  
Yaser Ghelmani ◽  
Shadi Kargar ◽  
Elahe Akbarian ◽  
...  

Background: A number of studies have reported that the xeroderma pigmentosum complementation group C (XPC) polymorphisms are associated with cutaneous malignant melanoma (CMM) susceptibility. But the results of those studies were inconsistent. Here, we performed a study to obtain a more conclusive result on the association of XPC polymorphisms with risk of CMM. Methods: The XPC Lys939Gln and Ala499Val polymorphisms were genotyped in 150 CMM cases and 150 controls by PCR-RFLP assay. Subsequently, all published relevant studies were identified through a comprehensive literature search in PubMed, Web of Science, and CNKI databases. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to estimate the strength of correlation. Results: There was no significant association between XPC Lys939Gln and Ala499Val polymorphisms and CMM risk in our population. A total of 15 case-control studies including ten studies with 5,990 cases and 7,697 controls on XPC Lys939Gln and five studies with 3,139 cases and 3,721 controls on XPC Ala499Val polymorphism were selected. Pooled data revealed that XPC Lys939Gln (C vs. A: OR = 1.108, 95% CI 1.008– 1.217; P = 0.033) and Ala499Val (C vs. A: OR = 0.918, 95% CI 0.850–0.992; p = 0.031; CC+CA vs. AA: OR = 0.904, 95% CI 0.819–0.997; p = 0.043) polymorphisms were significantly associated with an increased risk of CMM. Moreover, stratified analyses by ethnicity revealed that the XPC Ala499Val and Lys939Gln polymorphisms were significantly associated with risk of CMM in Caucasians and mixed populations, respectively. Conclusions: This meta-analysis result suggested that XPC Lys939Gln and Ala499Val polymorphisms were significantly associated with risk of CMM.


2018 ◽  
Vol 29 (8) ◽  
pp. 1358-1369 ◽  
Author(s):  
Stuart J. Ritchie ◽  
Elliot M. Tucker-Drob

Intelligence test scores and educational duration are positively correlated. This correlation could be interpreted in two ways: Students with greater propensity for intelligence go on to complete more education, or a longer education increases intelligence. We meta-analyzed three categories of quasiexperimental studies of educational effects on intelligence: those estimating education-intelligence associations after controlling for earlier intelligence, those using compulsory schooling policy changes as instrumental variables, and those using regression-discontinuity designs on school-entry age cutoffs. Across 142 effect sizes from 42 data sets involving over 600,000 participants, we found consistent evidence for beneficial effects of education on cognitive abilities of approximately 1 to 5 IQ points for an additional year of education. Moderator analyses indicated that the effects persisted across the life span and were present on all broad categories of cognitive ability studied. Education appears to be the most consistent, robust, and durable method yet to be identified for raising intelligence.


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