American journal of epidemiology最新文献

{"title":"Rare germline genetic variation in PAX8 transcription factor binding sites and susceptibility to epithelial ovarian cancer.","authors":"Suzana A M Ezquina, Michelle Jones, Ed Dicks, Amber de Vries, Pei-Chen Peng, Kate Lawrenson, Rosario I Corona, Jonathan Tyrer, Dennis Hazelett, James Brenton, Antonis Antoniou, Simon A Gayther, Paul D P Pharoah","doi":"10.1093/aje/kwae301","DOIUrl":"10.1093/aje/kwae301","url":null,"abstract":"<p><p>Common genetic variation throughout the genome and rare coding variants identified to date explain about half of the inherited genetic component of epithelial ovarian cancer risk. It is likely that rare variation in the noncoding genome will explain some of the unexplained heritability, but identifying such variants is challenging. The primary problem is a lack of statistical power to identify individual risk variants by association, as power is a function of sample size, effect size, and allele frequency. Power can be increased by using burden tests, which test for the association of carriers of any variant in a specified genomic region. This has the effect of increasing the putative effect allele frequency. PAX8 is a transcription factor that plays a critical role in tumor progression, migration, and invasion. Furthermore, regulatory elements proximal to target genes of PAX8 are enriched for common ovarian cancer risk variants. We hypothesized that rare variation in PAX8 binding sites is also associated with ovarian cancer risk but unlikely to be associated with risk of breast, colorectal, or endometrial cancer. We have used publicly available, whole-genome sequencing data from the UK 100,000 Genomes Project to evaluate the burden of rare variation in PAX8 binding sites across the genome. Data were available for 522 ovarian cancers, 2984 breast cancers, 2696 colorectal cancers, 836 endometrial cancers, and 2253 noncancer controls. Active binding sites were defined using data from multiple PAX8 and H3K27 chromatin immunoprecipitation sequencing experiments. We found no association between the burden of rare variation in PAX8 binding sites (defined in several ways) and risk of ovarian, breast, or endometrial cancer. An apparent association with colorectal cancer was likely to be a technical artifact as a similar association was also detected for rare variation in random regions of the genome. Despite the null result, this study provides a proof-of-principle for using burden testing to identify rare, noncoding germline genetic variation associated with disease. Larger sample sizes available from large-scale sequencing projects, together with improved understanding of the function of the noncoding genome, will increase the potential of similar studies in the future.</p>","PeriodicalId":7472,"journal":{"name":"American journal of epidemiology","volume":" ","pages":"1023-1031"},"PeriodicalIF":5.0,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142078794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Religious service attendance is protective against the diseases of despair: evidence from regression, sibling-fixed effects, and instrumental variables analyses.","authors":"Michael Lebenbaum, Jason Fletcher","doi":"10.1093/aje/kwae289","DOIUrl":"10.1093/aje/kwae289","url":null,"abstract":"<p><p>It is unclear whether the large secular decline in religiosity has contributed to the dramatic rise in the \"deaths of despair.\" We contribute to the recent epidemiologic literature estimating more rigorous effects of religiosity on health by examining the association between religiosity and the diseases of despair via regression, sibling fixed effects (SFE) analyses, instrumental variable (IV), and cross-lag analyses. We used the US Add Health sample when respondents were in Waves (W) 3-5 (ages: 18-43). We measured religious service attendance and a composite outcome consisting of painkiller abuse, past-year suicidal ideation, and weekly binge drinking. We estimated linear probability models, SFE, IV, and cross-lag models. Confounders included parental socio-demographics, community/school characteristics, and individual socio-demographics. Greater religious service attendance was negatively associated with the composite outcome in the pooled sample (β =-0.031; p < .5) and at each wave (W3 β=-0.025; W4 β=-0.040; W5 β=-0.028; all p < .5). Conclusions were similar in SFE models (W3-5 pooled β=-0.013), IV models (W4 β=-0.081; W3-5 pooled β=-0.064, all p < .5, F>100, and overidentification p > .10) and cross-lag models (W3-5 pooled β=-0.023, p < .5). The consistent results across models suggests that the large decline in religious service attendance likely contributed to the rise in the deaths of despair.</p>","PeriodicalId":7472,"journal":{"name":"American journal of epidemiology","volume":" ","pages":"1002-1011"},"PeriodicalIF":5.0,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142008086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A minimal nontrivial example of higher-order evidence.","authors":"Stephen R Cole, Bonnie E Shook-Sa, Paul N Zivich, Jessie K Edwards","doi":"10.1093/aje/kwae321","DOIUrl":"10.1093/aje/kwae321","url":null,"abstract":"<p><p>Higher-order evidence (ie, evidence about evidence) allows epidemiologists and other health data scientists to account for measurement error in validation data. Here, to illustrate the use of higher-order evidence, we provide a minimal nontrivial example of estimating the proportion and show how higher-order evidence can be used to construct sensitivity analyses. The proposed method provides a flexible approach to account for multiple levels of distortion in the results of epidemiologic studies.</p>","PeriodicalId":7472,"journal":{"name":"American journal of epidemiology","volume":" ","pages":"886-888"},"PeriodicalIF":5.0,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142091412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Generalizability of anti-SARS-CoV-2 seroprevalence estimates to the Montréal pediatric population: a comparison between 2 weighting methods.","authors":"Adrien Saucier, Bouchra Nasri, Britt McKinnon, Mabel Carabali, Laura Pierce, Katia Charland, Kate Zinszer","doi":"10.1093/aje/kwae276","DOIUrl":"10.1093/aje/kwae276","url":null,"abstract":"<p><p>Seroprevalence studies of SARS-CoV-2 infections often have been based on study populations with nonrandom and nonrepresentative samples, limiting the generalizability of their results. In this study, the representativity and the generalizability of the baseline estimate (data collected from October 16, 2020, to April 18, 2021) of a pediatric seroprevalence study based in Montréal were investigated. The change in the estimates of seroprevalence were compared between 2 different weighting methods: marginal standardization and raking. The target population was the general pediatric population of Montréal, based on 2016 Canadian census data. Study results show variation across the multiple weighting scenarios. Although both weighting methods performed similarly, each possesses its own strengths and weaknesses. However, raking was preferred for its capacity to simultaneously weight for multiple underrepresented study population characteristics.</p>","PeriodicalId":7472,"journal":{"name":"American journal of epidemiology","volume":" ","pages":"1112-1121"},"PeriodicalIF":5.0,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deimplementation of ineffective and harmful medical practices: a data-driven commentary.","authors":"Beth L Pineles, Christopher P Bonafide, Laura Ellen Ashcraft","doi":"10.1093/aje/kwae285","DOIUrl":"10.1093/aje/kwae285","url":null,"abstract":"<p><p>Deimplementation is the discontinuation or abandonment of medical practices that are ineffective or of unclear effectiveness, ranging from simply unhelpful to harmful. With epidemiology expanding to include more translational sciences, epidemiologists can contribute to deimplementation by defining evidence, establishing causality, and advising on study design. An estimated 10%-30% of health care practices have minimal to no benefit to patients and should be targeted for deimplementation. The steps in deimplementation are (1) identify low-value clinical practices, (2) facilitate the deimplementation process, (3) evaluate deimplementation outcomes, and (4) sustain deimplementation, each of which is a complex project. Deimplementation science involves researchers, health care and clinical stakeholders, and patient and community partners affected by the medical practice. Increasing collaboration between epidemiologists and implementation scientists is important to optimizing health care delivery.</p>","PeriodicalId":7472,"journal":{"name":"American journal of epidemiology","volume":" ","pages":"889-897"},"PeriodicalIF":5.0,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141981485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Improving the validity of noninterventional comparative effectiveness research by basing study design on a specified existing randomized controlled trial.","authors":"Kevin Wing, Clémence Leyrat","doi":"10.1093/aje/kwae317","DOIUrl":"10.1093/aje/kwae317","url":null,"abstract":"<p><p>This issue of the American Journal of Epidemiology includes 3 articles (2 reporting original analyses and 1 systematic review) in which noninterventional studies used an existing randomized controlled trial (RCT) as a reference standard to inform noninterventional study design and against which to benchmark results. This commentary provides a brief background on the challenges of noninterventional comparative effectiveness research, before elaborating on (1) the potential benefits and challenges of basing noninterventional study design on a specified existing RCT and (2) the distinction between designing analysis based upon a specified existing RCT and studies based solely upon a hypothetical target trial. Finally, several recommendations for the conduct and reporting of noninterventional studies based on existing RCTs are provided. This article is part of a Special Collection on Pharmacoepidemiology.</p>","PeriodicalId":7472,"journal":{"name":"American journal of epidemiology","volume":" ","pages":"913-917"},"PeriodicalIF":5.0,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142152998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Critical analyses concerning COVID-19 vaccines need to be consistently critical and informed.","authors":"Raphael Lataster","doi":"10.1093/aje/kwae395","DOIUrl":"10.1093/aje/kwae395","url":null,"abstract":"","PeriodicalId":7472,"journal":{"name":"American journal of epidemiology","volume":" ","pages":"1143-1144"},"PeriodicalIF":5.0,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143456617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The pharmacoepidemiology journey.","authors":"Jessica C Young, Sonia Hernández-Díaz","doi":"10.1093/aje/kwae324","DOIUrl":"10.1093/aje/kwae324","url":null,"abstract":"","PeriodicalId":7472,"journal":{"name":"American journal of epidemiology","volume":" ","pages":"883-885"},"PeriodicalIF":5.0,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142124538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"State-level structural racism and adolescent mental health in the United States.","authors":"Paris B Adkins-Jackson, Victoria A Joseph, Tiffany N Ford, Justina F Avila-Rieger, Ariana N Gobaud, Katherine M Keyes","doi":"10.1093/aje/kwae164","DOIUrl":"10.1093/aje/kwae164","url":null,"abstract":"<p><p>We explored state-level indicators of structural racism on internalizing symptoms of depressive affect among US adolescents. We merged 16 indicators of state-level structural racism with 2015-19 Monitoring the Future surveys (n = 41 258) examining associations with loneliness, self-esteem, self-derogation, and depressive symptoms using regression analyses. Students racialized as Black in states with bans on food stamp eligibility and temporary assistance for drug felony conviction had 1.37 times the odds of high depressive symptoms (95% confidence interval [CI], 1.01-1.89) compared to students in states without bans. In contrast, students racialized as White living in states with more severe disenfranchisement of people convicted of felonies had lower odds of high self-derogation (odds ratio [OR], 0.89; 95% CI, 0.78-1.02) and high depressive symptoms (OR, 0.83; 95% CI, 0.70-0.99) compared to states with less severe disenfranchisement. These findings demonstrate the need to address the legacy of structural racism at the state level to reduce mental distress for US youth. This article is part of a Special Collection on Mental Health.</p>","PeriodicalId":7472,"journal":{"name":"American journal of epidemiology","volume":" ","pages":"946-953"},"PeriodicalIF":5.0,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141496761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tracking vaccine effectiveness in an evolving pandemic, countering misleading hot takes and epidemiologic fallacies.","authors":"Jeffrey S Morris","doi":"10.1093/aje/kwae280","DOIUrl":"10.1093/aje/kwae280","url":null,"abstract":"<p><p>With the emergence of Omicron during the pandemic and the establishment of antibody waning over time, vaccine effectiveness, especially against infection, declined sharply from the original levels seen after the initial rollout. However, studies have demonstrated that they still provided substantial protection vs severe/fatal disease even with Omicron and after waning. Social media has been rife with reports claiming vaccines provided no benefit and some even claiming they made things worse, often driven by simple presentations of raw observational data using erroneous arguments involving epidemiologic fallacies including the base rate fallacy, Simpson's paradox, and the ecological fallacy and ignoring the extensive bias especially from confounding that is an inherent feature of these data. Similar fallacious arguments have been made by some in promoting vaccination policies, as well. Generally, vaccine effectiveness cannot be accurately estimated from raw population summaries but instead require rigorous, careful studies using epidemiologic designs and statistical analysis tools attempting to adjust for key confounders and sources of bias. This article summarizes what aggregated evidence across studies reveals about effectiveness of the mRNA vaccines as the pandemic has evolved, chronologically summarized with emerging variants and highlighting some of the fallacies and flawed arguments feeding social media-based claims that have obscured society's collective understanding.</p>","PeriodicalId":7472,"journal":{"name":"American journal of epidemiology","volume":" ","pages":"898-907"},"PeriodicalIF":5.0,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142103350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}