Public Health Genomics最新文献

{"title":"Research Participants' Attitudes towards Receiving Information on Genetic Susceptibility to Arsenic Toxicity in Rural Bangladesh.","authors":"Lizeth I Tamayo, Hannah Lin, Alauddin Ahmed, Hasan Shahriar, Rabiul Hasan, Golam Sarwar, Hem Mahbubul Eunus, Habibul Ahsan, Brandon L Pierce","doi":"10.1159/000505632","DOIUrl":"10.1159/000505632","url":null,"abstract":"<p><strong>Background: </strong>In human genetics research, it has become common practice for researchers to consider returning genetic information to participants who wish to receive it. Research participants in lower-resource settings may have barriers or competing interests that reduce the benefit or relevance of such information. Thus, the decision to return genetic information in these settings may involve special considerations of participants' interests and preferences. In this project, our goal was to assess Bangladeshi research participants' attitudes towards receiving information regarding genetic susceptibility to the effects of consuming arsenic-contaminated drinking water, a serious environmental health concern in Bangladesh and other countries.</p><p><strong>Methods: </strong>We administered a short questionnaire to 200 individuals participating in the Health Effects of Arsenic Longitudinal Study. Associations between survey responses and participant characteristics were estimated using logistic regression.</p><p><strong>Results: </strong>Overall, 100% of our participants were interested in receiving information regarding their genetic susceptibility to arsenic toxicities, and 91% indicated that being at increased genetic risk would motivate them to make efforts to reduce their exposure. Lower levels of education showed evidence of association with less concern regarding the health effects of arsenic and lower levels of motivation to reduce exposure in response to genetic information.</p><p><strong>Conclusions: </strong>Research participants in this low-resource setting appeared interested in receiving information on their genetic susceptibility to arsenic toxicity and motivated to reduce exposure in response to such information. Additional research is needed to understand how best to communicate genetic information in this population and to assess the impact of such information on individuals' behaviors and health.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 1-2","pages":"69-76"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7605079/pdf/nihms-1069070.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37653594","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":"Return of Research-Related Genetic Test Results and Genetic Discrimination Concerns: Facilitators and Barriers of Genetic Research Participation in Diverse Groups.","authors":"Andrea N Burnett-Hartman,&nbsp;Erica Blum-Barnett,&nbsp;Nikki M Carroll,&nbsp;Sarah D Madrid,&nbsp;Cabell Jonas,&nbsp;Kristen Janes,&nbsp;Monica Alvarado,&nbsp;Ruth Bedoy,&nbsp;Valerie Paolino,&nbsp;Nazneen Aziz,&nbsp;Elizabeth A McGlynn","doi":"10.1159/000507056","DOIUrl":"https://doi.org/10.1159/000507056","url":null,"abstract":"<p><strong>Background: </strong>Most genetics studies lack the diversity necessary to ensure that all groups benefit from genetic research.</p><p><strong>Objectives: </strong>To explore facilitators and barriers to genetic research participation.</p><p><strong>Methods: </strong>We conducted a survey on genetics in research and healthcare from November 15, 2017 to February 28, 2018 among adult Kaiser Permanente (KP) members who had been invited to participate in the KP biobank (KP Research Bank). We used logistic regression to calculate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) comparing the willingness to participate in genetic research under different return of results scenarios and genetic discrimination concerns between groups, according to their demographic characteristics.</p><p><strong>Results: </strong>A total of 57,331 KP members were invited to participate, and 10,369 completed the survey (18% response rate). Respondents were 65% female, 44% non-Hispanic White (NH White), 22% Asian/Native Hawaiian or other Pacific Islander (Asian/PI), 19% non-Hispanic Black (NH Black), and 16% Hispanic. Respondents willing to participate in genetic research ranged from 22% with no results returned to 87% if health-related genetic results were returned. We also found variation by race/ethnicity; when no results were to be returned, Asian/PIs, Hispanics, and NH Blacks were less likely to want to participate than NH Whites (p < 0.05). However, when results were returned, disparities in the willingness to participate disappeared for NH Blacks and Hispanics. Genetic discrimination concerns were more prevalent in Asian/PIs, Hispanics, and NH Blacks than in NH Whites (p < 0.05).</p><p><strong>Conclusions: </strong>Policies that prohibit the return of results and do not address genetic discrimination concerns may contribute to a greater underrepresentation of diverse groups in genetic research.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 1-2","pages":"59-68"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000507056","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37833407","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":"Four Actionable Bottlenecks and Potential Solutions to Translating Psychiatric Genetics Research: An Expert Review.","authors":"Jessica L Bourdon, Rachel A Davies, Elizabeth C Long","doi":"10.1159/000510832","DOIUrl":"10.1159/000510832","url":null,"abstract":"<p><strong>Background: </strong>Psychiatric genetics has had limited success in translational efforts. A thorough understanding of the present state of translation in this field will be useful in the facilitation and assessment of future translational progress.</p><p><strong>Purpose: </strong>A narrative literature review was conducted. Combinations of 3 groups of terms were searched in EBSCOhost, Google Scholar, and PubMed. The review occurred in multiple steps, including abstract collection, inclusion/exclusion criteria review, coding, and analysis of included papers.</p><p><strong>Results: </strong>One hundred and fourteen articles were analyzed for the narrative review. Across those, 4 bottlenecks were noted that, if addressed, may provide insights and help improve and increase translation in the field of psychiatric genetics. These 4 bottlenecks are emphasizing linear translational frameworks, relying on molecular genomic findings, prioritizing certain psychiatric disorders, and publishing more reviews than experiments.</p><p><strong>Conclusions: </strong>These entwined bottlenecks are examined with one another. Awareness of these bottlenecks can inform stakeholders who work to translate and/or utilize psychiatric genetic information. Potential solutions include utilizing nonlinear translational frameworks as well as a wider array of psychiatric genetic information (e.g., family history and gene-environment interplay) in this area of research, expanding which psychiatric disorders are considered for translation, and when possible, conducting original research. Researchers are urged to consider how their research is translational in the context of the frameworks, genetic information, and psychiatric disorders discussed in this review. At a broader level, these efforts should be supported with translational efforts in funding and policy shifts.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 5-6","pages":"171-183"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7854816/pdf/nihms-1625137.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38565237","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":"Variations in the Referral Pattern for Genetic Counseling of Patients with Early-Onset Breast Cancer: A Population-Based Study in Southern Sweden.","authors":"Annelie Augustinsson,&nbsp;Carolina Ellberg,&nbsp;Ulf Kristoffersson,&nbsp;Håkan Olsson,&nbsp;Hans Ehrencrona","doi":"10.1159/000508684","DOIUrl":"https://doi.org/10.1159/000508684","url":null,"abstract":"<p><p>Swedish national breast cancer guidelines recommend that all women diagnosed with breast cancer (BC) at the age of 35 years or younger should be referred to their regional oncogenetic clinic for genetic counseling and testing, regardless of family history of cancer. The main objective of this study was to evaluate whether place of residence at BC diagnosis and treating hospital were associated with the fact that not all BC patients diagnosed at ≤35 years in the southern part of Sweden have attended genetic counseling and testing. Between 2000 and 2013, 279 women in the South Swedish Health Care Region were diagnosed with BC at ≤35 years. Information regarding place of residence at BC diagnosis, treating hospital, time of registration and first meeting at the Oncogenetic Clinic in Lund, and genetic testing was collected. With a follow-up period until August 2018, 64% were registered at the clinic (60% underwent genetic testing) and 36% were not. BC patients from 2 counties and from rural settings with a population of <10,000 inhabitants were significantly less likely to be registered at the clinic. Our results suggest that place of residence at BC diagnosis and treating hospital were associated with the probability of referral for genetic counseling and testing for women diagnosed with BC at ≤35 years in the South Swedish Health Care Region. We propose, as a generalizable finding, that further educational and outreach activities within the health care system and the community may be needed to ensure that all women diagnosed with early-onset BC receive proper genetic counseling.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 3-4","pages":"100-109"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000508684","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38138147","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":"Healthcare Professional Clinical Actions following Nutrigenomics Testing in Practice.","authors":"Irem Karamanoglu,&nbsp;Daiva E Nielsen","doi":"10.1159/000511785","DOIUrl":"https://doi.org/10.1159/000511785","url":null,"abstract":"<p><strong>Background: </strong>Clinical demand for nutrigenomics testing (NGT) is increasing, underscoring the importance of assessing healthcare professional (HCP) competence and clinical actions with NGT in practice. While previous studies have explored HCP perceptions of NGT, no study has examined real HCP experiences with NGT in practice.</p><p><strong>Objective: </strong>The objective of this study was to evaluate the clinical experience of providing NGT among early adopter HCPs who have used NGT in their practice. We hypothesized that HCP clinical actions after NGT would differ according to HCP personal experience undergoing genetic testing (GT) as well as years in practice.</p><p><strong>Design: </strong>An online survey questionnaire was administered to HCPs (n = 70) who have provided NGT in practice. χ2 tests, tests for trend, and logistic regression were used to compare HCP characteristics with post-NGT outcomes.</p><p><strong>Results: </strong>HCPs with fewest years in practice (<5 years) comprised the lowest proportion of respondents (16%). Most HCPs reported good understanding of NGT results and 92% made genetic-based dietary recommendations to patients following NGT. HCP personal use of GT increased significantly with increasing years in practice (<5 years: 36%, 5-10 years: 53%, 11-20 years: 70%, and >20 years: 85%, p trend = 0.003). Requesting patient bloodwork because of NGT results increased significantly with HCP years in practice when HCPs with <5 years in practice were not considered (5-10 years: 19%, 11-20 years: 28%, and >20 years: 60%, p trend = 0.010). A near significant difference was observed where a greater proportion of HCPs who had personally undergone GT reported requesting patient bloodwork (personal use: 46% vs. no personal use: 23%, p-χ2 = 0.066).</p><p><strong>Conclusion: </strong>Early HCP adopters of NGT utilize the test results to provide genetic-based dietary recommendations to patients. Clinical action after NGT currently appears to be driven by HCP years in practice, but HCP personal use of GT may also be a factor.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 5-6","pages":"237-245"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000511785","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38340233","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":"At a Moment's Notice: Community Advisory Board Perspectives on Biobank Communication to Supplement Broad Consent.","authors":"Karen M Meagher,&nbsp;Susan H Curtis,&nbsp;Kylie O Gamm,&nbsp;Erica J Sutton,&nbsp;Jennifer B McCormick,&nbsp;Richard R Sharp","doi":"10.1159/000507057","DOIUrl":"https://doi.org/10.1159/000507057","url":null,"abstract":"<p><strong>Introduction: </strong>To address ethical concerns about the of future research authorization, biobanks employing a broad model of consent can design ongoing communication with contributors. Notifying contributors at the time of sample distribution provides one form of communication to supplement broad consent. However, little is known about how community-informed governance might anticipate contributor responses and inform communication efforts.</p><p><strong>Objective: </strong>We explored the attitudes of members of a three-site Community Advisory Board (CAB) network. CAB members responded to a hypothetical proposal for notifying biobank contributors at the time of sample distribution to researchers utilizing the biobank.</p><p><strong>Methods: </strong>We used regularly scheduled CAB meetings to facilitate 3 large-group and 6 small-group discussions. Discussions were audio-recorded, transcribed, and analyzed for thematic content using descriptive thematic analysis.</p><p><strong>Results: </strong>The results challenged our expectation of general support for the proposed communications. While CAB members identified some advantages, they were concerned about several potential harms to biobank contributors and the biobank. The CABs understood biobank communication in terms of an ongoing relationship with the biobank and a personal contribution to research.</p><p><strong>Conclusion: </strong>Our findings contribute to the emerging literature on community engagement in biobanking. Additional communication with biobank contributors can serve a variety of value-based objectives to supplement broad consent. Design of communication efforts by biobanks can be improved by CAB members' anticipation of the unintended consequences of additional contact with contributors. CAB members' holistic interpretation of communication efforts suggests that biobank leadership considers all communication options as part of a more comprehensive communications strategy.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 3-4","pages":"77-89"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000507057","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37926980","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":"SNPs in Sites for DNA Methylation, Transcription Factor Binding, and miRNA Targets Leading to Allele-Specific Gene Expression and Contributing to Complex Disease Risk: A Systematic Review.","authors":"Manik Vohra,&nbsp;Anu Radha Sharma,&nbsp;Navya Prabhu B,&nbsp;Padmalatha S Rai","doi":"10.1159/000510253","DOIUrl":"https://doi.org/10.1159/000510253","url":null,"abstract":"<p><strong>Introduction: </strong>The complex genetic diversity among human populations results from an assortment of factors acting at various sequential levels, including mutations, population migrations, genetic drift, and selection. Although there are a plethora of DNA sequence variations identified through genome-wide association studies (GWAS), the challenge remains to explain the mechanisms underlying interindividual phenotypic disparity accounting for disease susceptibility. Single nucleotide polymorphisms (SNPs) present in the sites for DNA methylation, transcription factor (TF) binding, or miRNA targets can alter the gene expression. The systematic review aimed to evaluate the complex crosstalk among SNPs, miRNAs, DNA methylation, and TFs for complex multifactorial disease risk.</p><p><strong>Methods: </strong>PubMed and Scopus databases were used from inception until May 15, 2019. Initially, screening of articles involved studies assessing the interaction of SNPs with TFs, DNA methylation, or miRNAs resulting in allele-specific gene expression in complex multifactorial diseases. We also included the studies which provided experimental validation of the interaction of SNPs with each of these factors. The results from various studies on multifactorial diseases were assessed.</p><p><strong>Results: </strong>A total of 11 articles for SNPs interacting with DNA methylation, 30 articles for SNPs interacting with TFs, and 11 articles for SNPs in miRNA binding sites were selected. The interactions of SNPs with epigenetic factors were found to be implicated in different types of cancers, autoimmune diseases, cardiovascular diseases, diabetes, and asthma.</p><p><strong>Conclusion: </strong>The systematic review provides evidence for the interplay between genetic and epigenetic risk factors through allele-specific gene expression in various complex multifactorial diseases.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 5-6","pages":"155-170"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000510253","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38413982","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":"Misinterpretation of Hereditary Breast Cancer Risk and Its Association with Information Sharing Motives among Women at Low Likelihood of Carrying a BRCA1/2 Mutation.","authors":"Jingsong Zhao, Colleen M McBride, Yue Guan","doi":"10.1159/000511131","DOIUrl":"10.1159/000511131","url":null,"abstract":"<p><strong>Purpose: </strong>In this brief report, we ask whether women's interpretation of breast cancer risk based on their low likelihood of carrying a BRCA1/2 mutation is associated with their information-sharing behavior, and whether misinterpretation is associated with motives for sharing the result.</p><p><strong>Methods: </strong>Women in mammography clinics who completed a brief family history assessment and deemed to be at low likelihood of carrying a BRCA1/2 mutation were asked to complete a 1-time online survey between June 2016 and January 2017.</p><p><strong>Results: </strong>One-third (44/148) of women shared their family history screen result with someone in their social network. Result information was shared largely with a first-degree female relative to express feelings of relief (77%, 33/43). There were no differences in likelihood of sharing based on breast cancer risk interpretation. However, women who misinterpreted the implications of the result for general breast cancer risk reported more motives to share the result with their social network than those who accurately interpreted their breast cancer risk.</p><p><strong>Conclusions: </strong>As family history-based screening for hereditary breast cancer is broadly implemented, the communication needs of the majority of women who will be unlikely of carrying a BRCA1/2 mutation must be considered. The motives of women who misinterpreted the implications of this result for breast cancer risk suggest the possibility that miscommunication could be spread to the broader family network.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 5-6","pages":"252-256"},"PeriodicalIF":1.3,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38636140","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":"In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research.","authors":"Maya Sabatello,&nbsp;Yuan Zhang,&nbsp;Ying Chen,&nbsp;Paul S Appelbaum","doi":"10.1159/000506599","DOIUrl":"https://doi.org/10.1159/000506599","url":null,"abstract":"<p><strong>Purpose: </strong>Returning genetic results to research participants is gaining momentum in the USA. It is believed to be an important step in exploring the impact of efforts to translate findings from research to bedside and public health benefits. Some also hope that this practice will incentivize research participation, especially among people from historically marginalized communities who are commonly underrepresented in research. However, research participants' interest in receiving nongenomic medical and nonmedical results that may emerge from precision medicine research (PMR) is understudied and no study to date has explored the views of people with disabilities about return of genomic and nongenomic results from PMR.</p><p><strong>Methods: </strong>In a national online survey of people with disabilities, participants were queried about their interest in receiving biological, environmental, and lifestyle results from PMR (n = 1,294). Analyses describe findings for all of the participants and comparisons for key demographic characteristics and disability subgroups.</p><p><strong>Results: </strong>The participants expressed high interest in biological and health-related results and less interest in other findings. However, the interest among the study participants was lower than that found in comparable studies of the general population. Moreover, this interest varied significantly across gender, race/ethnicity, and disability subgroups. Possible reasons for these differences are discussed.</p><p><strong>Conclusion: </strong>Insofar as return of results from PMR may impact translational efforts, it is important to better understand the role of sociomedical marginalization in decisions about return of results from PMR and to develop strategies to address existing barriers.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 1-2","pages":"42-53"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000506599","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37839166","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":"CYP24A1 rs1570669 Variant Has a Protective Effect against Tumors of the Urinary System.","authors":"Yao Sun,&nbsp;Xiang Wang,&nbsp;Jiamin Wu,&nbsp;Zichao Xiong,&nbsp;Haiyue Li,&nbsp;Yuanwei Liu,&nbsp;Jianfeng Liu,&nbsp;Yipeng Ding,&nbsp;Tianbo Jin","doi":"10.1159/000509190","DOIUrl":"https://doi.org/10.1159/000509190","url":null,"abstract":"<p><strong>Background: </strong>Common malignant tumors of the urinary system include renal cell carcinoma, bladder carcinoma, and prostate cancer. The research on the CYP24A1 gene for prostate cancer is mainly concentrated in European and American populations, and there are few studies in the Chinese population. Therefore, we selected bladder cancer, prostate cancer, and renal cancer as the research objects to explore the influence of CYP24A1 on the genetic susceptibility of urinary system tumors.</p><p><strong>Materials and methods: </strong>rs6068816, rs2296241, rs2762934, and rs1570669 in 529 patients and 523 controls were genotyped via the Agena MassARRAY. Logistic regression analysis was used to evaluate the odd ratios (ORs) and 95% confidence intervals (CIs) of two SNPs with susceptibility of urinary system cancer. Database predicts the expression of the CYP24A1 gene in urinary system cancer.</p><p><strong>Results: </strong>Individuals with the AG genotype of CYP24A1 rs1570669 has a 28% lower risk of developing urinary system tumors (OR = 0.72, 95% CI: 0.56-1.13, p = 0.016) and has a 31% lower risk of developing renal cancer (OR = 0.69, 95% CI: 0.51-0.92, p = 0.012).</p><p><strong>Conclusions: </strong>CYP24A1 rs1570669 may play an important role in the susceptibility of tumors of the urinary system and renal cancer.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"23 5-6","pages":"200-209"},"PeriodicalIF":1.7,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000509190","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38536446","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}