Public Health Genomics最新文献

{"title":"Is Habitual Dietary Intake of Fats Associated with Apelin Gene Expression in Visceral and Subcutaneous Adipose Tissues and Its Serum Levels in Obese Adults?","authors":"Maryam Zarkesh, Mohammad Safarian, Golaleh Asghari, Afsoon Daneshafrooz, Emad Yuzbashian, Mehdi Hedayati, Parvin Mirmiran, Alireza Khalaj","doi":"10.1159/000526961","DOIUrl":"10.1159/000526961","url":null,"abstract":"<p><strong>Introduction: </strong>Apelin could be one of the last protective defenses before developing obesity-related disorders, including insulin resistance, type 2 diabetes, and hypertension, which can be modified by dietary intake. The present study investigated the association of habitual intake of total fatty acids (TFAs), saturated-, monounsaturated-, polyunsaturated FAs, n-3, and n-6 FAs with Apelin expression in visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT).</p><p><strong>Methods: </strong>We obtained VAT and SAT from 168 participants (64 nonobese and 104 obese) who had undergone open abdominal surgery. Dietary intake information was gathered with a valid and reliable food frequency questionnaire. The mRNA expression of the Apelin gene was analyzed by real-time PCR.</p><p><strong>Results: </strong>Apelin serum levels were increased in the obese subjects compared to the nonobese group (p = 0.016). The SAT and VAT Apelin mRNA levels were significantly elevated in the obese participants compared to the nonobese ones (p < 0.05). Based on BMI status, only obese subjects indicated a positive association between SAT and VAT Apelin expression and TFA intake (p < 0.001). However, this association was observed between SAT and VAT Apelin gene expression and polyunsaturated fatty acid (PUFA) and n-3 FA intakes in both obese and nonobese groups (p < 0.05).</p><p><strong>Conclusion: </strong>High Apelin gene expression was associated with TFA intake in obese subjects in both fat tissues. However, habitual intake of PUFA and n-3 FA was associated with Apelin gene expression in obese and nonobese individuals. Our results indicate a determinative role of the quality and quantity of FA intake on adipose tissue.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"16-23"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10738492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Call to Action for Advancing Equitable Genomic Newborn Screening.","authors":"Anne L Ersig, Cheedy Jaja, Audrey Tluczek","doi":"10.1159/000534648","DOIUrl":"10.1159/000534648","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"188-193"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664321/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41240253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digital Health Tools in Genomics: Advancing Diversity, Equity, and Inclusion.","authors":"Daniel Assamad, Safa Majeed, Vernie Aguda, Sonya Grewal, Carly Butkowsky, Marc Clausen, Guylaine D'Amours, Yvonne Bombard","doi":"10.1159/000534804","DOIUrl":"10.1159/000534804","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"194-200"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54231908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors Influencing Genetic Screening Enrollment among a Diverse, Community-Ascertained Cohort.","authors":"Nandana D Rao, Jailanie Kaganovsky, Stephanie M Fullerton, Annie T Chen, Brian H Shirts","doi":"10.1159/000531989","DOIUrl":"10.1159/000531989","url":null,"abstract":"<p><strong>Introduction: </strong>Genetic screening for preventable adult-onset hereditary conditions has been proposed as a mechanism to reduce health disparities. Analysis of how race and ethnicity influence decision-making to receive screening can inform recruitment efforts and more equitable population screening design. A study at the University of Washington Medicine that invited unselected patients to participate in genetic screening for pathogenic variation in medically important genes provided an opportunity to evaluate these factors.</p><p><strong>Methods: </strong>We analyzed screening enrollee survey data to understand factors most important and least important in decision-making about screening overall and across different race and ethnicity groups. Electronic health record race and ethnicity and survey-reported race and ethnicity were compared to assist with interpretation. Comments provided about reasons for not enrolling in screening were analyzed using content analysis.</p><p><strong>Results: </strong>Overall, learning about disease risk and identifying risk early for prevention purposes were important factors in decision-making to receive screening, and regrets about screening and screening being against one's moral code were not viewed as important. Although racial identity was challenging to assign in all cases, compared to other enrollees, African-American and Asian enrollees considered test accuracy and knowing more about the test to be of greater importance. Three themes emerged related to nonparticipation: benefits do not outweigh risks, don't want to know, and challenges with study logistics.</p><p><strong>Conclusion: </strong>Our results highlight important motivators for receiving screening and areas that can be addressed to increase screening interest and accessibility. This knowledge can inform future population screening program design including recruitment and education approaches.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"113-122"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10038770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ConnectMyVariant: An Innovative Use of Technology and Social Networks to Realize the Benefits of Cascade Screening.","authors":"Brian H Shirts","doi":"10.1159/000533971","DOIUrl":"10.1159/000533971","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"177-182"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41174442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Public Health Genomics: Time to Sharpen the Focus.","authors":"Colleen M McBride, J Scott Roberts, Sarah Knerr, Yue Guan","doi":"10.1159/000533985","DOIUrl":"10.1159/000533985","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"171-176"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614505/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41174443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MTNR1B rs1387153 Polymorphism and Risk of Gestational Diabetes Mellitus: Meta-Analysis and Trial Sequential Analysis.","authors":"Dan Shan, Ao Wang, Ke Yi","doi":"10.1159/000535148","DOIUrl":"10.1159/000535148","url":null,"abstract":"<p><strong>Background: </strong>Published data on the association between the MTNR1B rs1387153 polymorphism and gestational diabetes mellitus (GDM) risk are controversial.</p><p><strong>Objective: </strong>A meta-analysis was performed to assess whether the polymorphism of MTNR1B rs1387153 is associated with GDM risk.</p><p><strong>Method: </strong>Medline, Embase, China National Knowledge Infrastructure, and Chinese Biomedicine Databases were searched to identify eligible studies. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) for MTNR1B rs1387153 polymorphism and GDM were appropriately derived from fixed-effects or random effects models.</p><p><strong>Results: </strong>A total of 8 studies were enrolled in this meta-analysis. The pooled analyses revealed that MTNR1B rs1387153 polymorphism significantly increased the risk of GDM in all models (allele contrast (C vs. T): OR, 0.78; 95% CI, 0.73-0.83; homozygote (CC vs. TT): OR, 0.61; 95% CI, 0.53-0.69; heterozygote (CT vs. TT): OR, 0.78; 95% CI, 0.69-0.89; dominant model (CC + CT vs. TT): OR, 0.71; 95% CI, 0.63-0.80; recessive model (CC vs. CT + TT): OR, 0.73; 95% CI, 0.67-0.81). Further subgroup analyses by ethnicity of participants yielded similar positive results.</p><p><strong>Conclusions: </strong>Present meta-analysis reveals that MTNR1B rs1387153 variant may serve as genetic biomarkers of GDM.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"201-211"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138048302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Refining a Multifaceted Model of Perceived Utility of Genomic Sequencing Results.","authors":"Devan M Duenas, Leslie Riddle, Claudia Guerra, Mikaella Caruncho, Hannah Lewis, Kathryn M Porter, Stephanie A Kraft, Katherine P Anderson, Barbara Biesecker, Marian J Gilmore, Jamilyn M Zepp, Michael C Leo, Benjamin S Wilfond, Galen Joseph","doi":"10.1159/000531782","DOIUrl":"10.1159/000531782","url":null,"abstract":"<p><strong>Introduction: </strong>Research on the perceived utility of genomic sequencing has focused primarily on pediatric populations and on individuals and families with rare genetic diseases. Here, we evaluate how well a multifaceted perceived utility model developed with these populations applies to a diverse, adult population aged 18-49 at risk for hereditary cancer and propose new considerations for the model.</p><p><strong>Methods: </strong>Participants received clinical genomic sequencing in the Cancer Health Assessments Reaching Many (CHARM) study. Semi-structured qualitative interviews were conducted with a subset of participants at 1 and 6 months after results disclosure. We used an approach influenced by grounded theory to examine perceptions of the utility of genomic sequencing and analyzed how utility in CHARM mapped to the published multifaceted perceived utility model, noting which domains were represented or absent and which were most salient to our population.</p><p><strong>Results: </strong>Participants' discussions of utility often involved multiple domains and revealed the variety of ways in which receiving sequencing results can impact one's life. Results demonstrated that an individual's perception of utility can change over the life course when sequenced at a relatively young age and may be influenced by the resources available to them to act on the results.</p><p><strong>Conclusion: </strong>Our findings demonstrate the relevance of a multifaceted perceived utility model for a diverse adult population at risk for hereditary cancer. We identified refinements that could make the model more robust, including emphasizing the overlapping nature of the domains and the importance of life stage and personal resources to the perception of utility.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"135-144"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614499/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10048191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Testing and Other Healthcare Use by Black and White Individuals in a Genomic Sequencing Study.","authors":"Katherine W Saylor, William M P Klein, Larissa Calancie, Katie L Lewis, Leslie G Biesecker, Erin Turbitt, Megan C Roberts","doi":"10.1159/000533356","DOIUrl":"10.1159/000533356","url":null,"abstract":"<p><strong>Introduction: </strong>Early adopters play a critical role in the diffusion of medical innovations by spreading awareness, increasing acceptability, and driving demand. Understanding the role of race in the context of other characteristics of potential early adopters can shed light on disparities seen in the early implementation of genomic medicine. We aimed to understand the association between self-identified race and individual experience with genetic testing outside of the research context.</p><p><strong>Methods: </strong>We assessed factors associated with the odds of having ever received genetic testing prior to enrollment in a genomic sequencing study among 674 self-identified white and 407 self-identified African, African American, or Afro-Caribbean (\"Black\") individuals.</p><p><strong>Results: </strong>Controlling for individual determinants of healthcare use (demographics, personality traits, knowledge and attitudes, and health status), identifying as Black was associated with lower odds of prior genetic testing (OR = 0.43, 95% CI [0.27-0.68], p &lt; 0.001). In contrast, self-identified race was not associated with the use of non-genetic clinical screening tests (e.g., echocardiogram, colonoscopy). Black and white individuals were similar on self-reported personality traits tied to early adoption but differed by sociodemographic and resource facilitators of early adoption.</p><p><strong>Conclusion: </strong>Persistent racial disparities among early adopters may represent especially-entrenched disparities in access to and knowledge of genomic technologies in clinical settings.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"90-102"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614486/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10022537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Your Family Connects: A Theory-Based Intervention to Encourage Communication about Possible Inherited Cancer Risk among Ovarian Cancer Survivors and Close Relatives.","authors":"Jingsong Zhao, Colleen M McBride, Gavin P Campbell, Rebecca D Pentz, Cam Escoffery, Michael Konomos, Cecelia Bellcross, Kevin Ward, James R Shepperd, Yue Guan","doi":"10.1159/000531772","DOIUrl":"10.1159/000531772","url":null,"abstract":"<p><strong>Introduction: </strong>Encouraging family communication about possible genetic risk has become among the most important avenues for achieving the full potential of genomic discovery for primary and secondary prevention. Yet, effective family-wide risk communication (i.e., conveying genetic risk status and its meaning for other family members) remains a critical gap in the field. We aim to describe the iterative process of developing a scalable population-based communication outreach intervention, Your Family Connects, to reach ovarian cancer survivors and close relatives to communicate the potential for inherited risk and to consider genetic counseling.</p><p><strong>Methods: </strong>Relational-level theories (e.g., interdependence theory) suggest that interventions to promote family cancer risk communication will be most effective if they consider the qualities of specific relationships and activate motives to preserve the relationship. Informed by these theories, we collaborated with 14 citizen scientists (survivors of ovarian cancer or relatives) and collected 261 surveys and 39 structured interviews over 12 weeks of citizen science activities in 2020.</p><p><strong>Results: </strong>The citizen science findings and consideration of relational-level theories informed the content and implementation of Your Family Connects (<ext-link ext-link-type=\"uri\" xlink:href=\"http://www.yourfamilyconnects.org/\" xmlns:xlink=\"http://www.w3.org/1999/xlink\">www.yourfamilyconnects.org</ext-link>). CS results showed survivors favor personal contact with close relatives, but relatives were open to alternative contact methods, such as through health professionals. Recognizing the need for varied approaches based on relationship dynamics, we implemented a relative contact menu to enable survivors identify at-risk relatives and provide multiple contact options (i.e., survivor contact, health professional contact, and delayed contact). In line with relational autonomy principles, we included pros and cons for each option, assisting survivors in choosing suitable contact methods for each relative.</p><p><strong>Discussion: </strong>Our developed intervention represents a novel application of relational-level theories and partnership with citizen scientists to expand genetic services reach to increase the likelihood for fair distribution of cancer genomic advances. The Your Family Connects intervention as part of a randomized trial in collaboration with the Georgia Cancer Registry compared with standard outreach.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"77-89"},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614520/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10242096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}