Public Health Genomics最新文献

{"title":"Ethical Aspects of Genotype Disclosure: Perceptions of Participants in a Nutrigenetic Study in Finland.","authors":"Suchetana De,&nbsp;Maaria Tringham,&nbsp;Anu Hopia,&nbsp;Raija Tahvonen,&nbsp;Anna-Maija Pietilä,&nbsp;Kirsi Vähäkangas","doi":"10.1159/000512640","DOIUrl":"https://doi.org/10.1159/000512640","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to gain insight into the understanding of genetics and perceptions on the ethical issues related to genotype disclosure of the participants in a nutrigenetic study.</p><p><strong>Methods: </strong>A close-ended questionnaire was developed based on literature and discussions among the research group members. The questionnaire contained a -total of 33 questions, which were divided into 4 categories - demographics, knowledge assessment, concerns related to participation, and opinions on disclosure of information. Majority of the participants (250 out of 281) of a nutrigenetic study, in which effect of disclosing APOE allele status on lifestyle changes was studied, completed the questionnaire online following the informed consent process. The responses from the knowledge assessment and the concern categories were transformed into knowledge and concern scales, respectively, and analysed by descriptive statistical methods. The statistical associations between the categorical variables were determined using χ2 test of independence. The relationship between the continuous variables was assessed using Pearson product-moment correlation coefficient and internal consistency of questions by Cronbach's alpha.</p><p><strong>Results: </strong>No correlation was observed between the level of education and knowledge scores. About 10% of the participants thought that the genetic predisposition would be stressful to them and their family members.</p><p><strong>Conclusions: </strong>Careful distribution of information before a nutrigenetic study supports understanding and reduces concerns of genetic susceptibility. In Finland, strong basic education is likely to have strengthened the trust in research process.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"33-43"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512640","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38852051","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":"Motivating and Discouraging Factors for Bipolar Patient Participation in Genomic Research.","authors":"Eric J Vallender,&nbsp;Mark E Ladner,&nbsp;Margaret O Akinhanmi,&nbsp;Felicia V Caples,&nbsp;Mark A Frye,&nbsp;Joyce E Balls-Berry","doi":"10.1159/000513723","DOIUrl":"https://doi.org/10.1159/000513723","url":null,"abstract":"<p><strong>Aims: </strong>The goal of this project was to better understand the motivating and discouraging factors toward genetic research and biobank programs in patients with bipolar disorder, particularly across gender and racial identities.</p><p><strong>Methods: </strong>A survey (n = 63) of adults diagnosed with bipolar disorder was conducted at the general psychiatric inpatient unit and outpatient clinic at the University of Mississippi Medical Center. Participants were asked to rate on a Likert scale their attitudes toward medical research generally, mental health research specifically, and willingness to participate in a bipolar DNA biobank. Last, they were asked to endorse motivating factors or concerns for their attitude toward participation.</p><p><strong>Results: </strong>Neither attitudes toward research nor willingness to participate in a bipolar biobank differed across gender, age, or education level, but Black/African American participants were statistically significantly less likely to endorse a willingness to participate in a biobank compared to White participants. As observed in previous work, Black/African American participants were significantly more likely to endorse concerns regarding violations of trust, privacy, or autonomy. However, while there were no significant differences in discouraging factors among individuals who indicated an opposition to participating in a biobank compared to those who indicated support, there was a significant decrease in support of motivating factors, including increasing knowledge, personal benefit, and duty to community, for those not interested in participating.</p><p><strong>Conclusions: </strong>Black/African American participants with bipolar disorder were more likely to express concerns about DNA and biobank research. But while race was a contributing factor to support or opposition to biobanking for bipolar disorder research, more salient was insufficient positive motivation. These results highlight the need to emphasize contemporary safeguards on DNA research and biobanking as an ethical duty and to identify the need for community-based educational interventions to promote a greater understanding of the positive benefits to motivate increased research participation.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"89-98"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000513723","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25427034","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":"The Belgian DNA Debate: An Online Deliberative Platform on the Ethical, Legal, and Social Issues of Genomics.","authors":"Chloé Mayeur,&nbsp;Marlies Saelaert,&nbsp;Wannes Van Hoof","doi":"10.1159/000515356","DOIUrl":"https://doi.org/10.1159/000515356","url":null,"abstract":"<p><strong>Introduction: </strong>Genomics is increasingly being implemented in the society. To fully realise this implementation, citizens should be consulted about their perspectives on genomics and its associated ethical, legal, and social issues (ELSI) to enable them to co-create with experts a society-supported framework in genomics.</p><p><strong>Methods: </strong>A Belgian online DNA debate was organised, where 1,127 citizens contributed to its deliberative platform.</p><p><strong>Results: </strong>Contributors expressed a dual attitude towards the societal use of genomic information throughout 5 main themes. Firstly, contributors considered DNA to have a significant but nondeterministic impact on identity. The second theme describes how genomic information may guide people's behaviour but has unfavourable effects such as psychological distress. The third theme covers the tension between a genomics-based responsibility and the rejection of genetic discrimination. The fourth theme depicts how genomic information may be useful for the common good and society at large but how, nevertheless, it should be people's free choice to use this information. In the fifth theme, contributors expressed both willingness to share their data and caution towards the harm and abuses this may engender. Finally, contributors formulated some recommendations for the responsible implementation of genomics.</p><p><strong>Discussion and conclusion: </strong>The attitude of contributors towards the societal use of genomic information and its ELSI aligns with a soft precautionary approach, in which prudence and the weighing of different values should result in protective measures against potential risks and harms. Further societal implementation of genomics should include these values and concerns.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"149-159"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000515356","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38952266","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":"Stakeholders' Interest and Attitudes toward Genomic Medicine and Pharmacogenomics Implementation in the United Arab Emirates: A Qualitative Study.","authors":"Azhar T Rahma,&nbsp;Iffat Elbarazi,&nbsp;Bassam R Ali,&nbsp;George P Patrinos,&nbsp;Luai A Ahmed,&nbsp;Fatima Al-Maskari","doi":"10.1159/000513753","DOIUrl":"https://doi.org/10.1159/000513753","url":null,"abstract":"<p><strong>Background and aim: </strong>Mapping the power, interest, and stance of stakeholders is a cornerstone for genomic medicine implementation. In this study, we aimed at mapping the power/interest of various stakeholders in United Arab Emirates (UAE) and exploring their attitudes toward pressing health genomics aspects. The overarching aim of this study is to facilitate the construction of a road map for the full implementation of genomic medicine and pharmacogenomics in the UAE with potential applicability to many healthcare systems around the world.</p><p><strong>Methods: </strong>A qualitative approach using in-depth interview was employed. Heterogeneous stakeholders were identified by experts in the field. The analysis of the data was a hybrid of deductive and inductive approach using NVivo software for coding and analysis.</p><p><strong>Results: </strong>13 interviews were conducted. Following mapping the Mendelow's matrix, we categorized the stakeholders in UAE to promoter, latent, defender, and apathetic. Most of the interviewed stakeholders emphasized the clinical demand for genomic medicine in UAE. However, many of them were less inclined to articulate the need for pharmacogenomics at the moment. The majority of stakeholders in UAE were in favor of building infrastructure for better genetic services in the country. Stakeholder from an insurance sector had contradicting stance about the cost-effectiveness of genomic medicine; the majority were concerned with the legal and ethical aspects of genomic medicine and had an opposing stance on direct-to-consumer kits.</p><p><strong>Conclusions: </strong>Implementing the Mendelow's model will allow the systematic strategy for implementing genomic medicine in UAE. This can be achieved by engaging the key players (promoters and defenders) as well as engaging and satisfying the latent stakeholder.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"99-109"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000513753","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25498234","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":"Formative Evaluation of the Families SHARE Disease Risk Tool among Low-Income African Americans.","authors":"Kayla de la Haye, Calandra Whitted, Laura M Koehly","doi":"10.1159/000517309","DOIUrl":"10.1159/000517309","url":null,"abstract":"<p><strong>Introduction: </strong>Family Health Histories (FHH) have been endorsed by the surgeon general as a powerful yet underutilized tool for identifying individuals at risk for complex chronic diseases such as diabetes, heart disease, and cancer. FHH tools provide a mechanism for increasing communication about disease history and motivating behavior change to reduce disease risk. A critical gap in translation efforts includes a lack of research that adapts and evaluates tools for low-income, minority populations who experience disparities in chronic disease.</p><p><strong>Methods: </strong>This study is a formative mixed-methods evaluation of an evidence-based FHH intervention called \"Families SHARE\" among African Americans residing in low-income neighborhoods. Participants (N = 51) completed assessments before and 6 weeks after receiving the intervention, including surveys and focus groups. We evaluated (a) their use, understanding, and perceived value of the tool; (b) if the intervention led to increased intentions to adopt disease risk-reducing behaviors among those with heightened disease risk, given their FHH; and (c) acceptability of and recommendations for the tool.</p><p><strong>Results: </strong>The quantitative and qualitative data indicated that this population valued and used the tool, and it prompted communication about FHH with family, friends, and others. Receipt of the intervention resulted in mixed accuracy of their perceived disease risk, and it did not shift intentions to change health behaviors. Qualitative data provide insights for future iterations of the Families SHARE tool.</p><p><strong>Conclusion: </strong>Families SHARE is an engaging FHH tool that can be further tailored to optimize its value and benefits for low-income African Americans.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"280-290"},"PeriodicalIF":1.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9504369/pdf/nihms-1716133.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39161441","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":"Practices and Attitudes toward Returning Genomic Research Results to Low-Resource Research Participants.","authors":"Megan B Raymond, Kayla E Cooper, Lisa S Parker, Vence L Bonham","doi":"10.1159/000516782","DOIUrl":"10.1159/000516782","url":null,"abstract":"<p><strong>Introduction: </strong>Many research programs are challenged to accommodate low-resource research participants' (LRRP) ancillary care needs when returning genomic research results. We define LRRP as those who are low income, uninsured, underinsured, or facing barriers to act upon the results returned. This study evaluates current policies and practices surrounding return of results (RoR) to LRRP, as well as the attitudes of investigators toward providing ancillary care to LRRP.</p><p><strong>Methods: </strong>A semi-structured interview study was conducted with representatives of 35 genomic research programs nationwide. Eligible programs were returning, or planning to return, medically actionable genomic results to participants.</p><p><strong>Results: </strong>Three content categories emerged from this study, including: (1) RoR structures, (2) barriers to RoR to LRRP, and (3) solutions to meet community and LRRP needs. Three major structures of RoR emerged: (1) RoR Embedded in Clinical Care, (2) RoR Independent of Clinical Care, and (3) Reliance on Clinical Partnerships to Facilitate RoR. Inadequacy of program resources to address the needs of LRRP was commonly considered a significant obstacle. The attitudes and views of informants regarding responsibility to provide ancillary care for LRRP receiving genomic results were highly varied. Some informants believed that genomic sequencing and testing was not a priority for LRRP because of other pressing issues in their lives, such as housing and food insecurity. Research programs differ regarding whether clinical and social support for LRRP is considered within the purview of the research team. Some programs instituted accommodations for LRRP, including social work referral and insurance enrollment assistance.</p><p><strong>Conclusion: </strong>Support to access downstream treatment is not readily available for LRRP in many genomic research programs. Development of best practices and policies for managing RoR to LRRP is needed.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"241-252"},"PeriodicalIF":1.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8592386/pdf/nihms-1702520.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39154416","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":"Development of an Implementation Framework for Overcoming Underdiagnoses of Familial Hypercholesterolemia in the USA.","authors":"Dana M Miller,&nbsp;Amy Gaviglio,&nbsp;Heather A Zierhut","doi":"10.1159/000513872","DOIUrl":"https://doi.org/10.1159/000513872","url":null,"abstract":"<p><p>Familial hypercholesterolemia (FH) is a genetic condition which causes elevated low-density lipoprotein cholesterol from birth. With a prevalence of 1 in 250 and the availability of effective treatments, the diagnostic rate of <1 to 10% is unacceptably low. Screening for FH is supported by multiple organizations, but it has not been broadly adopted and implemented across the USA. To investigate the implementation of FH screening, key informants were recruited from across the USA for their expertise in FH-related literature, guidelines, public health, and/or advocacy to complete -semistructured interviews guided by implementation science (RE-AIM framework). Sixteen semistructured interviews were analyzed with directed content and thematic analyses, yielding specific barriers and recommendations to improve FH screening. Barriers to FH screening included patient recruitment and participation, equitable access to healthcare, provider discomfort with screening and treating FH, provider burden, lack of public health and legislative support, FH awareness, guideline complexity, facilitation of genetic testing and cascade screening, and lack of coordination between stakeholders. Awareness, engagement, communication, and collaboration between stakeholders is integral to successful FH screening. Individualized plans will be required at national, regional, and institutional levels. FH screening implementation can be achieved through practice facilitation, streamlined screening approaches, electric medical record tools, and consensus guidelines to increase screening adoption and consistent delivery. Reliable funding and established lines of communication between stakeholders can maintain efforts as FH screening progresses.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"110-122"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000513872","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25588406","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":"Genetic Variation and Evolution of the 2019 Novel Coronavirus.","authors":"Salvatore Dimonte,&nbsp;Muhammed Babakir-Mina,&nbsp;Taib Hama-Soor,&nbsp;Salar Ali","doi":"10.1159/000513530","DOIUrl":"https://doi.org/10.1159/000513530","url":null,"abstract":"<p><strong>Introduction: </strong>SARS-CoV-2 is a new type of coronavirus causing a pandemic severe acute respiratory syndrome (SARS-2). Coronaviruses are very diverting genetically and mutate so often periodically. The natural selection of viral mutations may cause host infection selectivity and infectivity.</p><p><strong>Methods: </strong>This study was aimed to indicate the diversity between human and animal coronaviruses through finding the rate of mutation in each of the spike, nucleocapsid, envelope, and membrane proteins.</p><p><strong>Results: </strong>The mutation rate is abundant in all 4 structural proteins. The most number of statistically significant amino acid mutations were found in spike receptor-binding domain (RBD) which may be because it is responsible for a corresponding receptor binding in a broad range of hosts and host selectivity to infect. Among 17 previously known amino acids which are important for binding of spike to angiotensin-converting enzyme 2 (ACE2) receptor, all of them are conservative among human coronaviruses, but only 3 of them significantly are mutated in animal coronaviruses. A single amino acid aspartate-454, that causes dissociation of the RBD of the spike and ACE2, and F486 which gives the strength of binding with ACE2 remain intact in all coronaviruses.</p><p><strong>Discussion/conclusion: </strong>Observations of this study provided evidence of the genetic diversity and rapid evolution of SARS-CoV-2 as well as other human and animal coronaviruses.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"54-66"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000513530","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39135915","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":"The Perception of Premarital Genetic Screening within Young Jordanian Individuals.","authors":"Zaid Altaany,&nbsp;Omar F Khabour,&nbsp;Karem H Alzoubi,&nbsp;Almuthanna K Alkaraki,&nbsp;Ghaith Al-Taani","doi":"10.1159/000517162","DOIUrl":"https://doi.org/10.1159/000517162","url":null,"abstract":"<p><strong>Background: </strong>During the past two decades, the attention of public health has been drawn to premarital genetic screening (PGS) programs to reduce birth defects and avoid genetic disorders. In Jordan, the high rate of genetic hemoglobinopathies compelled the government to implement an obligatory PGS program before marriage. Therefore, the objective of this study was to investigate the knowledge, opinion, and practice of young Jordanians concerning PGS.</p><p><strong>Methods: </strong>Using a pretested questionnaire, this cross-sectional study was conducted on a convenience sample from Jordan. The measures included respondents' demographics, and beliefs/opinions regarding PGS.</p><p><strong>Results: </strong>A total of 432 participants completed the survey. The majority (87.8%) had a positive attitude toward PGS program. Reasons behind this positive attitude were preventing transmission of genetic diseases, reducing family breakdown/psychosocial problems, and financial burdens of having a child with genetic disease. In fact, 49.8% of participants were willing to change their marriage decision in case of receiving incompatible results. Moreover, most of the participants (75.1%) demanded the implementation of a law that prohibits incompatible marriages. A positive attitude toward PGS was found to be associated with female gender and having a university education.</p><p><strong>Conclusions: </strong>Young Jordanians have a positive attitude toward the implementation of PGS. Yet, educational programs should be drawn up to the target population before getting married emphasizing the important role of PGS in the wellness of the community.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"24 3-4","pages":"182-188"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000517162","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10825510","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":"Investigation of the Association between 45 Tag SNPs and Type 2 Diabetes Mellitus in Han Chinese Adults: A Prospective Cohort Study.","authors":"Yun Chen,&nbsp;Xiao-Ying Chen,&nbsp;Xiao-Lian Dong,&nbsp;Yu-Zhuo Wang,&nbsp;Na Wang,&nbsp;Jian-Fu Zhu,&nbsp;Yue Chen,&nbsp;Qing-Wu Jiang,&nbsp;Chao-Wei Fu","doi":"10.1159/000513891","DOIUrl":"https://doi.org/10.1159/000513891","url":null,"abstract":"<p><strong>Introduction: </strong>The objective of this study was to examine the association between type 2 diabetes mellitus (T2DM) and genes identified in previous genome-wide association studies (GWASs) in rural Han Chinese adults.</p><p><strong>Methods: </strong>This prospective study included 1,832 adults aged ≥18 years in Deqing without diabetes at baseline. The subjects were followed up for 8.7 years on average. We selected 45 susceptible tag single-nucleotide polymorphisms (SNPs) for T2DM that have been identified in GWASs and genotyped. A Cox model was constructed to calculate the adjusted hazard ratios (aHRs) for the association between SNPs and incident T2DM.</p><p><strong>Results: </strong>The incidence rate of T2DM was 12.0 per 1,000 person-years. After adjustment for covariates and a Bonferroni correction, rs17584499 of protein tyrosine phosphatase, receptor-type D (PTPRD), rs11257655 and rs10906115 of cell division cycle 123 gene (CDC123), and rs12970134 of melanocortin-4 receptor (MC4R) were significantly associated with incident T2DM. The aHRs for incident T2DM were 1.75 (95% confidence interval [CI]: 1.28-2.40) and 1.61 (95% CI: 1.27-2.04) in association with an increasing number of T alleles in rs17584499 and rs11257655 under an additive genetic model, and the aHR was 1.72 (95% CI: 1.33-2.22) with an increasing number of A alleles in rs10906115. The aHRs under the dominant model were 1.82 (95% CI: 1.25-2.66) for TT + CT versus CC of rs17584499 and 2.04 (95% CI: 1.47-2.86) for AA + AG versus GG of rs10966115. The aHRs under the recessive model were 2.99 (95% CI: 1.30-6.89) for TT versus CT + CC of rs17584499, 1.92 (95% CI: 1.39-2.70) for TT versus CT + CC of rs11257655, and 2.54 (95% CI:1.22-5.29) for AA versus AG + GG of rs12970134. In addition, an increased incidence of T2DM was significantly associated with the TA haplotype of rs11257655 and rs10906115 (aHR = 1.81, 95% CI: 1.12-2.92), while a decreased incidence was associated with the CG haplotype (aHR = 0.49, 95% CI: 0.35-0.68) and the CT haplotype of rs1111875 and rs5015480 (aHR = 0.61, 95% CI: 0.37-0.98).</p><p><strong>Conclusion: </strong>Variants of the PTPRD, CDC123, and MC4R genes were associated with the T2DM incidence in a rural Han Chinese population.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"123-130"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000513891","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25465676","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}