Pub Date : 2023-01-01Epub Date: 2023-06-12DOI: 10.1159/000530683
Prescilla B Carrion, Jehannine Austin, Alison M Elliott
This practice-related insight article describes the experience of a genetic counselor being integrated into a multidisciplinary primary care clinic that provides care for a predominantly marginalized patient population in Victoria, British Columbia, Canada. Reflections on the lessons learned, including challenges and successes during this 1-year pilot integration are shared by the genetic counselor in the context of exploring the potential value a genetic counselor can provide while embedded in a primary care clinic. The relationship between clinical genetic counseling practice and a culturally safe and trauma-informed approach in primary care is explored, and additional steps are described that can be taken to facilitate more equitable and inclusive access to genetic counseling services for underserved and vulnerable patient populations.
{"title":"A Genetic Counselor's Reflections on Lessons Learned, Challenges, and Successes Experienced during a One-Year Pilot Integration in a Primary Care Clinic.","authors":"Prescilla B Carrion, Jehannine Austin, Alison M Elliott","doi":"10.1159/000530683","DOIUrl":"10.1159/000530683","url":null,"abstract":"<p><p>This practice-related insight article describes the experience of a genetic counselor being integrated into a multidisciplinary primary care clinic that provides care for a predominantly marginalized patient population in Victoria, British Columbia, Canada. Reflections on the lessons learned, including challenges and successes during this 1-year pilot integration are shared by the genetic counselor in the context of exploring the potential value a genetic counselor can provide while embedded in a primary care clinic. The relationship between clinical genetic counseling practice and a culturally safe and trauma-informed approach in primary care is explored, and additional steps are described that can be taken to facilitate more equitable and inclusive access to genetic counseling services for underserved and vulnerable patient populations.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9624708","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}
Pub Date : 2023-01-01Epub Date: 2022-12-08DOI: 10.1159/000526961
Maryam Zarkesh, Mohammad Safarian, Golaleh Asghari, Afsoon Daneshafrooz, Emad Yuzbashian, Mehdi Hedayati, Parvin Mirmiran, Alireza Khalaj
Introduction: 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).
Methods: 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.
Results: 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).
Conclusion: 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.
{"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":null,"pages":null},"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}
Pub Date : 2023-01-01Epub Date: 2023-10-17DOI: 10.1159/000534648
Anne L Ersig, Cheedy Jaja, Audrey Tluczek
{"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":null,"pages":null},"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}
Pub Date : 2023-01-01Epub Date: 2023-08-21DOI: 10.1159/000531989
Nandana D Rao, Jailanie Kaganovsky, Stephanie M Fullerton, Annie T Chen, Brian H Shirts
Introduction: 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.
Methods: 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.
Results: 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.
Conclusion: 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.
{"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":null,"pages":null},"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}
Pub Date : 2023-01-01Epub Date: 2023-09-20DOI: 10.1159/000533985
Colleen M McBride, J Scott Roberts, Sarah Knerr, Yue Guan
{"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":null,"pages":null},"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}
Pub Date : 2023-01-01Epub Date: 2023-09-26DOI: 10.1159/000533971
Brian H Shirts
{"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":null,"pages":null},"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}
Pub Date : 2023-01-01Epub Date: 2023-08-04DOI: 10.1159/000533356
Katherine W Saylor, William M P Klein, Larissa Calancie, Katie L Lewis, Leslie G Biesecker, Erin Turbitt, Megan C Roberts
Introduction: 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.
Methods: 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.
Results: 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 < 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.
Conclusion: Persistent racial disparities among early adopters may represent especially-entrenched disparities in access to and knowledge of genomic technologies in clinical settings.
{"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 < 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":null,"pages":null},"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}
Pub Date : 2023-01-01Epub Date: 2023-08-22DOI: 10.1159/000531782
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
Introduction: 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.
Methods: 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.
Results: 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.
Conclusion: 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.
{"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":null,"pages":null},"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}
Pub Date : 2023-01-01Epub Date: 2023-11-17DOI: 10.1159/000535148
Dan Shan, Ao Wang, Ke Yi
Background: Published data on the association between the MTNR1B rs1387153 polymorphism and gestational diabetes mellitus (GDM) risk are controversial.
Objective: A meta-analysis was performed to assess whether the polymorphism of MTNR1B rs1387153 is associated with GDM risk.
Method: 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.
Results: 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.
Conclusions: Present meta-analysis reveals that MTNR1B rs1387153 variant may serve as genetic biomarkers of GDM.
已发表的MTNR1B rs1387153多态性与妊娠糖尿病(GDM)风险之间的关联数据存在争议。进行荟萃分析以评估MTNR1B rs1387153多态性是否与GDM风险相关。方法:检索Medline, Embase,中国国家知识基础设施和中国生物医学数据库,以确定符合条件的研究。MTNR1B rs1387153多态性和GDM的合并优势比(ORs)和95%置信区间(ci)适当地从固定效应或随机效应模型中得出。结果:本meta分析共纳入8项研究。合并分析显示,MTNR1B rs1387153多态性在所有模型中显著增加GDM的风险。等位基因对比(C vs T): OR, 0.78;95%置信区间,0.73 - -0.83;纯合子(CC vs TT): OR, 0.61;95% CI, 0.53-0.69;杂合子(CT vs TT): OR, 0.78;95% ci, 0.69-0.89;优势模型(CC +CT vs TT): OR, 0.71;95% ci, 0.63-0.80;隐性模型(CC vs CT + TT): OR, 0.73;95%可信区间,0.67 - -0.81)。进一步的种族亚组分析得出了类似的阳性结果。结论:本荟萃分析显示MTNR1B rs1387153变异可能是GDM的遗传生物标志物。
{"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":null,"pages":null},"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}