Public Health Genomics最新文献

{"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":"Genotype-Phenotype Analysis of 8q24.3 Duplication and 21q22.3 Deletion in a Chinese Patient and Literature Review.","authors":"Huihui Sun,&nbsp;Naijun Wan","doi":"10.1159/000515547","DOIUrl":"https://doi.org/10.1159/000515547","url":null,"abstract":"Introduction: Copy number variants (CNVs) are responsible for many patients with short stature of unknown etiology. This study aims to analyze clinical phenotypes and identify pathogenic CNVs in a patient with short stature, intellectual disability, craniofacial deformities, and anal imperforation. Methods: G-banded karyotyping and chromosomal microarray analysis (CMA) was used on the patient to identify pathogenic causes. Fluorescence in situ hybridization (FISH) was applied to explore the abnormal genetic origin. Literatures were searched using identified CNVs as keywords in the PubMed database to perform genotype-phenotype analysis. Results: Cytogenetic analysis revealed a normal karyotype 46,XY. CMA detected a 6.1 Mb duplication at 8q24.3 and a 3.6 Mb deletion at 21q22.3. FISH confirmed that the abnormal chromosomes were inherited from paternal balanced translocation. We compared phenotypes of our patient with 6 patients with 8q24.3 duplication and 7 cases with 21q22.3 deletion respectively. Conclusions: A novel 8q24.3 duplication and 21q22.3 deletion was identified in a Chinese patient. Genotype-phenotype analysis demonstrated that patients with 8q24.3 duplication and 21q22.3 deletion had specific facial features, intellectual disability, short stature, and multiple malformations.","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"218-228"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000515547","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39187011","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":"Impact of Previous Genetic Counseling and Objective Numeracy on Accurate Interpretation of a Pharmacogenetics Test Report.","authors":"Kelly Drelles,&nbsp;Robert Pilarski,&nbsp;Kandamurugu Manickam,&nbsp;Abigail B Shoben,&nbsp;Amanda Ewart Toland","doi":"10.1159/000512476","DOIUrl":"https://doi.org/10.1159/000512476","url":null,"abstract":"<p><strong>Introduction: </strong>Pharmacogenetic (PGx) testing can be useful for providing information about a patient's drug response by increasing drug efficacy and decreasing the incidence of adverse drug events. While PGx tests were previously only offered to patients under healthcare provider supervision, they are now available as direct to consumer (DTC) tests. This study aimed to assess how accurately individuals from the general population were able to interpret a sample PGx test report and if accuracy differed based on individuals' numeracy or prior genetic counseling (GC).</p><p><strong>Methods: </strong>We surveyed 293 individuals from the general population, ascertained through ResearchMatch. The survey included questions about PGx test interpretation, numeracy, and genetic literacy.</p><p><strong>Results: </strong>In our cohort, numeracy level impacted PGx result interpretation, with those of high numeracy performing statistically significantly better on both the table format and graphical format (p value = 0.002 and p value <0.001, respectively) and genetic knowledge questions (p value <0.001) than those with low/average numeracy. In addition, previous GC did not impact test interpretation or genetic knowledge, but the number of individuals with prior GC was small (n = 26).</p><p><strong>Discussion/conclusion: </strong>We found that numeracy had a significant impact on correct interpretation of PGx test reports. Because many individuals in the USA have low numeracy levels, it is extremely important that patients do not make their own medication management decision based on the test results and that they consult with their physicians about their PGx testing. The importance of consultation and discussion with providers about results should be emphasized on the test report.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"26-32"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512476","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38819094","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}

{"title":"Teenagers and Precision Psychiatry: A Window of Opportunity.","authors":"Maya Sabatello,&nbsp;Ying Chen,&nbsp;Carmen Fiorella Herrera,&nbsp;Erika Brockhoff,&nbsp;Jehannine Austin,&nbsp;Paul S Appelbaum","doi":"10.1159/000512475","DOIUrl":"https://doi.org/10.1159/000512475","url":null,"abstract":"<p><strong>Objective: </strong>Precision medicine raises hope for translating genetic-based knowledge about psychiatric risks into mental health benefits by motivating health-related, risk-reducing behaviors. Teenagers (ages 14-17) are an important age-group to engage in preventive efforts but, their views about psychiatric genetics are understudied.</p><p><strong>Method: </strong>An online survey with a nationally representative sample of teenagers (n = 417) was conducted. Participants were randomly assigned to receive 1 of 2 handouts, 1 emphasizing the genetic underpinnings of psychiatric conditions; the other agency-oriented and focusing on gene-environment interactions. Survey questions queried their views about behavioral changes in response to psychiatric genetic risk information and expressed willingness to undertake them. Participants' decision-making characteristics (i.e., self-efficacy, empowerment, intolerance of uncertainty, and sensation-seeking) were assessed at baseline.</p><p><strong>Results: </strong>Teenagers strongly valued the information provided and its potential usefulness for their mental health. Information about psychiatric genetics alone impacted views about the causes of mental illness. Contrary to our hypothesis, the type of handout did not impact participants' expressed willingness to make behavioral changes to reduce their risk of developing a psychiatric condition, but their sense of empowerment played a key role in their responses.</p><p><strong>Conclusion: </strong>Educating teenagers about gene-environment interactions may help facilitate the translational efforts of precision psychiatry. Research with teenagers across racial/ethnic groups, especially those with family histories, is needed to better understand the factors that impact teenagers' empowerment in psychiatric genomic settings and to identify measures, including the best enablers of empowerment (e.g., educators, parents), which would allow them to reap the benefits of precision psychiatry.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":"24 1-2","pages":"14-25"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512475","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10343590","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":"Contribution of XPD and XPF Polymorphisms to Susceptibility of Non-Small Cell Lung Cancer in High-Altitude Areas.","authors":"Miao Li,&nbsp;Rong Chen,&nbsp;Baoyan Ji,&nbsp;Chunmei Fan,&nbsp;Guanying Wang,&nbsp;Chenli Yue,&nbsp;Guoquan Li","doi":"10.1159/000512641","DOIUrl":"https://doi.org/10.1159/000512641","url":null,"abstract":"<p><strong>Background: </strong>We aimed to explore the relation of XPD and XPF variants with non-small cell lung cancer (NSCLC) risk and the effect of these variants on the sensitivity to cisplatin-based chemotherapy among the Chinese Han population in high-altitude areas.</p><p><strong>Methods: </strong>Eight single-nucleotide polymorphisms (SNPs) in XPD and XPF were genotyped by Agena MassARRAY platform among 506 NSCLC cases and 510 healthy controls. Correlation of XPD and XPF gene polymorphisms with NSCLC susceptibility and the response of cis-platin-based chemotherapy were analyzed with logistic regression by calculating odds ratios (ORs) and 95% confidence intervals (CIs).</p><p><strong>Results: </strong>XPD rs13181 (OR = 1.53, 95% CI: 1.04-2.24, p = 0.029) and rs1052555 (OR = 1.63, 95% CI: 1.05-2.53, p = 0.029) possibly contributed to the increased risk of lung adenocarcinoma, while XPD rs238406 (OR = 0.63, 95% CI: 0.43-0.94, p = 0.024) was a protective factor for lung squamous cell carcinoma. Age, gender, BMI, smoking, and drinking might affect the correlation of XPD and XPF polymorphisms with NSCLC risk. More importantly, XPD rs13181 (OR = 2.91, p = 0.015), XPD rs1052555 (OR = 2.67, p = 0.022), and XPF rs231127 (OR = 4.15, p = 0.008) were associated with treatment response in NSCLC patients underwent cisplatin-based chemotherapy.</p><p><strong>Conclusion: </strong>This study found that XPD and XPF variants might contribute to NSCLC risk and the response of cisplatin-based chemotherapy among the Chinese Han population in high-altitude areas.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"189-198"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512641","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25567783","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":"Comparative Genome-Wide Characterization of Microsatellites in Candida albicans and Candida dubliniensis Leading to the Development of Species-Specific Marker.","authors":"Pallavi Singh,&nbsp;Ravindra Nath,&nbsp;Vimala Venkatesh","doi":"10.1159/000512087","DOIUrl":"https://doi.org/10.1159/000512087","url":null,"abstract":"<p><strong>Background: </strong>Microsatellites or simple sequence repeats (SSR) are related to genomic structure, function, and certain diseases of taxonomically different organisms.</p><p><strong>Objective: </strong>To characterize microsatellites in two closely related Candida species by searching and comparing 1-6 bp nucleotide motifs and utilizing them to develop species-specific markers.</p><p><strong>Methods: </strong>Whole-genome sequence was downloaded from the public domain, microsatellites were mined and analyzed, and primers were synthesized.</p><p><strong>Results: </strong>A total of 15,821 and 7,868 microsatellites, with mono-nucleotides (8,679) and trinucleotides (3,156) as most frequent microsatellites, were mined in Candida dubliniensis and Candida albicans, respectively. Chromosome size was found positively correlated with microsatellite number in both the species, whereas it was negatively correlated with the relative abundance and density of microsatellites. A number of unique motifs were also found in both the species. Overall, microsatellite frequencies of each chromosome in C. dubliniensis were higher than in C. albicans.</p><p><strong>Conclusion: </strong>The features of microsatellite distribution in the two species' genomes revealed that it is probably not conserved in the genus Candida. Data generated in this article could be used for comparative genome mapping and understanding the distribution of microsatellites and genome structure between these closely related and phenotypically misidentified species and may provide a foundation for the development of a new set of species-specific microsatellite markers. Here, we also report a novel microsatellite-based marker for C. dubliniensis-specific identification.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-13"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512087","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38783191","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":"Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?","authors":"Cassidy Brothers,&nbsp;Holly Etchegary,&nbsp;Fiona Curtis,&nbsp;Charlene Simmonds,&nbsp;Jim Houston,&nbsp;Terry-Lynn Young,&nbsp;Daryl Pullman,&nbsp;Hensley H Mariathas,&nbsp;Sean Connors,&nbsp;Kathleen Hodgkinson","doi":"10.1159/000517265","DOIUrl":"https://doi.org/10.1159/000517265","url":null,"abstract":"Purpose: We have identified 27 families in Newfoundland and Labrador (NL) with the founder variant TMEM43 p.S358L responsible for 1 form of arrhythmogenic right ventricular cardiomyopathy. Current screening guidelines rely solely on cascade genetic screening, which may result in unrecognized, high-risk carriers who would benefit from preemptive implantable cardioverter-defibrillator therapy. This pilot study explored the acceptability among subjects to TMEM43 p.S358L population-based genetic screening (PBGS) in this Canadian province. Methods: A prospective cohort study assessed attitudes, psychological distress, and health-related quality of life (QOL) in unselected individuals who underwent genetic screening for the TMEM43 p.S358L variant. Participants (n = 73) were recruited via advertisements and completed 2 surveys at baseline, 6 months, and 1 year which measured health-related QOL (SF-36v2) and psychological distress (Impact of Events Scale). Results: No variant-positive carriers were identified. Of those screened through a telephone questionnaire, >95% felt positive about population-genetic screening for TMEM43 p.S358L, though 68% reported some degree of anxiety after seeing the advertisement. There were no significant changes in health-related QOL or psychological distress scores over the study period. Conclusion: Despite some initial anxiety, we show support for PBGS among research subjects who screened negative for the TMEM43 p.S358L variant in NL. These findings have implications for future PBGS programs in the province.","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"253-260"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39398747","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":"Secondary Data Usage in Direct-to-Consumer Genetic Testing: To What Extent Are Customers Aware and Concerned?","authors":"Janessa Mladucky,&nbsp;Bonnie Baty,&nbsp;Jeffrey Botkin,&nbsp;Rebecca Anderson","doi":"10.1159/000512660","DOIUrl":"https://doi.org/10.1159/000512660","url":null,"abstract":"<p><strong>Introduction: </strong>Customer data from direct-to-consumer genetic testing (DTC GT) are often used for secondary purposes beyond providing the customer with test results.</p><p><strong>Objective: </strong>The goals of this study were to determine customer knowledge of secondary uses of data, to understand their perception of risks associated with these uses, and to determine the extent of customer concerns about privacy.</p><p><strong>Methods: </strong>Twenty DTC GT customers were interviewed about their experiences. The semi-structured interviews were transcribed, coded, and analyzed for common themes.</p><p><strong>Results: </strong>Most participants were aware of some secondary uses of data. All participants felt that data usage for research was acceptable, but acceptability for non-research purposes varied across participants. The majority of participants were aware of the existence of a privacy policy, but few read the majority of the privacy statement. When previously unconsidered uses of data were discussed, some participants expressed concern over privacy protections for their data.</p><p><strong>Conclusion: </strong>When exposed to new information on secondary uses of data, customers express concerns and a desire to improve consent with transparency, more opt-out options, improved readability, and more information on future uses and potential risks from direct-to-consumer companies. Effective ways to improve readership about the secondary use, risk of use, and protection of customer data should be investigated and the findings implemented by DTC companies to protect public trust in these practices.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"199-206"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512660","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25418920","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":"Meta-Analyses of Multiple Gene Expression Profiles to Screen Hub Genes Related to Osteoarthritis.","authors":"Xianyang Zhu,&nbsp;Wen Guo","doi":"10.1159/000517308","DOIUrl":"https://doi.org/10.1159/000517308","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to screen and validate the crucial genes involved in osteoarthritis (OA) and explore its potential molecular mechanisms.</p><p><strong>Methods: </strong>Four expression profile datasets related to OA were downloaded from the Gene Expression Omnibus (GEO). The differentially expressed genes (DEGs) from 4 microarray patterns were identified by the meta-analysis method. The weighted gene co-expression network analysis (WGCNA) method was used to investigate stable modules most related to OA. In addition, a protein-protein interaction (PPI) network was built to explore hub genes in OA. Moreover, OA-related genes and pathways were retrieved from Comparative Toxicogenomics Database (CTD).</p><p><strong>Results: </strong>A total of 1,136 DEGs were identified from 4 datasets. Based on these DEGs, WGCNA further explored 370 genes included in the 3 OA-related stable modules. A total of 10 hub genes were identified in the PPI network, including AKT1, CDC42, HLA-DQA2, TUBB, TWISTNB, GSK3B, FZD2, KLC1, GUSB, and RHOG. Besides, 5 pathways including \"Lysosome,\" \"Pathways in cancer,\" \"Wnt signaling pathway,\" \"ECM-receptor interaction\" and \"Focal adhesion\" in CTD and enrichment analysis and 5 OA-related hub genes (including GSK3B, CDC42, AKT1, FZD2, and GUSB) were identified.</p><p><strong>Conclusion: </strong>In this study, the meta-analysis was used to screen the central genes associated with OA in a variety of gene expression profiles. Three OA-related modules (green, turquoise, and yellow) containing 370 genes were identified through WGCNA. It was discovered through the gene-pathway network that GSK3B, CDC42, AKT1, FZD2, and GUSB may be key genes related to the progress of OA and may become promising therapeutic targets.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"267-279"},"PeriodicalIF":1.7,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39268897","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}