Genetic testing and molecular biomarkers最新文献

{"title":"Role of Genetic Polymorphism and Expression of Angiopoietin-2 in Patients with Primary Liver Cancer Among the Southeastern Chinese Hans Population.","authors":"Bin Wang,&nbsp;Yunxiao Lv,&nbsp;Shenjian Ye,&nbsp;Jin Zhao,&nbsp;Xinling Pan","doi":"10.1089/gtmb.2022.0198","DOIUrl":"https://doi.org/10.1089/gtmb.2022.0198","url":null,"abstract":"<p><p><b><i>Background:</i></b> Angiopoietin-2 <b>(</b>Ang2)-mediated angiogenesis plays a crucial role in the pathogenesis of vascular-rich cancers. However, the genetic polymorphism and expression level of Ang2 in patients with primary liver cancer remain unknown. <b><i>Methods:</i></b> This study included 234 primary liver cancer patients and 199 healthy controls. The expression levels of Ang2 in liver cancer tissues and plasma were determined. Peripheral blood samples were collected to test five <i>ANGPT2</i> single nucleotide polymorphisms (rs2442598, rs734701, rs1823375, rs11137037, and rs12674822). <b><i>Results:</i></b> Plasma Ang2 levels in patients with liver cancer were upregulated compared with that in healthy controls. The upregulation of plasma Ang2 levels was significantly associated with vascular invasion, metastasis, and clinical stage. Notably, the transcription level of <i>ANGPT2</i> was elevated in tumor tissues compared with para-carcinoma tissues. Individuals with the TT genotype at rs2442598 and genotype AC and AC+CC at rs11137037 had higher liver cancer risk compared with healthy controls. <b><i>Conclusions:</i></b> Upregulated Ang2 levels in blood plasma and cancer tissues of liver cancer patients confirm that Ang2 plays a vital role in the pathogenesis of liver cancer. <i>ANGPT2</i> rs2442588 and rs11137037 are associated with liver cancer risk, thereby highlighting their role in screening individuals susceptible to liver cancer.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 6","pages":"193-198"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9760387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of PIWIL1 Single Nucleotide Polymorphisms on Gastric Cancer Risk in a Chinese Population.","authors":"Dan Hu,&nbsp;Laicheng Wang,&nbsp;Xin Chen,&nbsp;Yunchai Lin,&nbsp;Shunpeng Zhang,&nbsp;Zongcheng Fan,&nbsp;Feng Peng","doi":"10.1089/gtmb.2022.0061","DOIUrl":"https://doi.org/10.1089/gtmb.2022.0061","url":null,"abstract":"<p><p><b><i>Background:</i></b> PIWI-like proteins contribute to the onset and progression of carcinogenesis. Whether single nucleotide polymorphisms (SNPs) in the PIWI-like 1 (PIWIL1) gene affect the morbidity and mortality of gastric cancer (GC) remains unclear. To investigate the efficacy of PIWIL1 SNPs genotype on the morbidity and mortality of GC and its interaction within PIWIL1 gene SNPs variation and between elevated plasma glucose. <b><i>Materials and Methods:</i></b> We conducted a case-control study that contained 216 GC patients and 204 cancer-free controls to compare differential expression of PIWIL1 SNPs. <b><i>Results:</i></b> PIWIL1 gene rs1106042 AA and AG genotypes were associated with significantly reduced GC risk (odds ratio [OR]: 0.15 and 0.26, <i>p</i> < 0.001 and <i>p</i> = 0.016), and rs10773771 CT+CC type significantly increased cancer risk (OR: 1.54 <i>p</i> = 0.037). We observed strong associations between rs10773771 and pathological type (<i>p</i> = 0.012), rs11703684, and invasion depth (<i>p</i> = 0.012). We noticed significant gene-gene interaction between rs1106042 and rs10773771 (<i>p</i> = 0.0107). Interaction between the copresence of rs1106042 GG plus hyperglycemia was also significant (relative excess risk due to interaction: 28.78, attributable proportion due to interaction: 68.2%, synergy index: 3.32). Patients with rs1892723 TT and rs1892722 GG+GA type had better survival (<i>p</i> = 0.030 and <i>p</i> = 0.048). <b><i>Conclusion:</i></b> rs10773771 CT+CC was associated with GC risk increase, rs1106042 AA and AG function as a protective factor. rs1892723 CT+TT and rs1892722 AA type may portend a poor prognosis. Elevated fasting plasma glucose will significantly increase the risk of PIWIL gene rs1106042 GG carcinogenesis by multiplicative interaction.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 6","pages":"185-192"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9760386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Creating a Path for Gene and Cell Therapies to Be Accessible to Patients.","authors":"Helen Albert","doi":"10.1089/gtmb.2023.29073.hal","DOIUrl":"https://doi.org/10.1089/gtmb.2023.29073.hal","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 6","pages":"199-201"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9761766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Applicability of Polygenic Risk Scores in Under-Represented Populations.","authors":"Katie Riefski,&nbsp;Sharon F Terry","doi":"10.1089/gtmb.2023.29072.persp","DOIUrl":"https://doi.org/10.1089/gtmb.2023.29072.persp","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 6","pages":"183-184"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9791897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>Correction to:</i> Identifying Mitochondrial Transcription Factor A As a Potential Biomarker for the Carcinogenesis and Prognosis of Prostate Cancer, by Yaqiong Tian, et al. <i>Genet Test Mol Biomarkers</i> 2023; (vol. 27, no. 1; 5-11); doi: 10.1089/gtmb.2022.0141.","authors":"","doi":"10.1089/gtmb.2022.0141.correx","DOIUrl":"https://doi.org/10.1089/gtmb.2022.0141.correx","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 6","pages":"202"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10398721/pdf/gtmb.2022.0141.correx.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10312747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.","authors":"Ameera Balobaid,&nbsp;Faiqa Imtiaz,&nbsp;Khushnooda Ramzan,&nbsp;Sibtain Afzal,&nbsp;Moeenaldeen AlSayed","doi":"10.1089/gtmb.2022.0218","DOIUrl":"https://doi.org/10.1089/gtmb.2022.0218","url":null,"abstract":"<p><p><b><i>Background:</i></b> Deleterious mutations in the human gene phenylalanine hydroxylase (<i>PAH</i>) encoding the phenylalanine hydroxylase enzyme give rise to classic phenylketonuria and hyperphenylalaninemia. Our study was designed to characterize the spectrum of variants in the <i>PAH</i> gene in Saudi patients. <b><i>Materials and Methods:</i></b> We screened a cohort of 72 Saudi patients with clinical and biochemical diagnoses of hyperphenylalaninemia at the largest tertiary care center in Saudi Arabia; the King Faisal Specialist Hospital and Research Center (KFSH&RC), Riyadh. All patient's charts were reviewed under an approved study by Institutional Review Board. <b><i>Results:</i></b> Twenty-one different <i>PAH</i> variants were identified among the 144 PAH alleles assessed by targeted gene sequencing. Within the studied cohort, 60 of 72 patients had homozygous mutations with the the remaining 12 being compound heterozygotes. The most prevalent of the disease alleles identified in this study was the p.(Arg252Trp) mutation, which accounted for 38 of 144 alleles (26.4%). With the high incidence of genetic disorders in the population, religiously permissible preventive reproductive measures are a priority in our practice. Prenatal diagnoses carried out on four fetuses revealed two that were homozygous for PAH pathogenic variants. In addition, pre-implantation genetic diagnoses were initiated for 19 families. Eight of these families completed more than one full cycle of treatment, from which one healthy newborn was delivered. <b><i>Conclusions:</i></b> This study describes the spectrum of <i>PAH</i> variants in the Saudi population and highlights the molecular heterogeneity underlying phenylketonuria and hyperphenylalaninemia. These results add to the existing knowledge about <i>PAH</i> variants in Middle Eastern Countries. These results can be further translated to provide: informed counseling; cascade carrier testing in extended family members; and pre-marital screening.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 5","pages":"142-148"},"PeriodicalIF":1.4,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9561167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Who Are the Experts?","authors":"Sharon F Terry","doi":"10.1089/gtmb.2023.29071.persp","DOIUrl":"https://doi.org/10.1089/gtmb.2023.29071.persp","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 5","pages":"131-132"},"PeriodicalIF":1.4,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9561168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of <i>BRCA2</i> Gene Functional Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population.","authors":"Siyuan Guo,&nbsp;Zuo Zhou,&nbsp;Tingting Guo,&nbsp;Yi Xu,&nbsp;Xintao Yang,&nbsp;Yupei Wang,&nbsp;Renji Chen","doi":"10.1089/gtmb.2022.0223","DOIUrl":"https://doi.org/10.1089/gtmb.2022.0223","url":null,"abstract":"<p><p><b><i>Background:</i></b> Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a complex congenital disease affected by genetic and environmental factors however, the specific pathogenic alleles and regulatory mechanisms remain unclear in many cases. Here, we aimed to study the association between eight potentially functional single nucleotide polymorphisms (SNPs) of the <i>BRCA2</i> and <i>MGMT</i> genes and NSCL/P in a Chinese population through a case-control study. <b><i>Materials and Methods:</i></b> To investigate the relationship between potentially functional SNPs of the <i>BRCA2</i> and <i>MGMT</i> genes and NSCL/P, we selected 200 affected patients and 200 unrelated normal controls in a Chinese population. The <i>BRCA2</i> gene SNPs (rs11571836, rs144848, rs7334543, rs15869, rs766173 and rs206118) and <i>MGMT</i> gene SNPs (rs12917 and rs7896488) were genotyped using the SNaPshot technique and the resulting data were subjected to statistical and bioinformatic analyses. <b><i>Results:</i></b> Our study identified for the first time that alleles of the <i>BRCA2</i> are associated with NSCL/P in a Chinese population and that the s11571836 G allele was protective against NSCL/P. Under four genetic models, rs11571836 had a significant correlation with NSCL/P. Preliminary bioinformatic analyses revealed four potential miRNA matching sites (miR-1244, miR-1323, miR-562, and miR-633) associated with the rs11571836 which is located in the 3' untranslated region of <i>BRCA2</i>. <b><i>Conclusions:</i></b> These results support the role of polymorphisms of <i>BRCA2</i> gene in affecting susceptibility to NSCL/P and its progression, but further research is necessary to elucidate the mechanism by which the <i>BRCA2</i> gene polymorphisms affect the penetrance of NSCL/P.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 5","pages":"157-164"},"PeriodicalIF":1.4,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9931805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Between the <i>SLC2A2</i> Gene rs1499821 Polymorphism and Caries Susceptibility.","authors":"Li Liu,&nbsp;Fei Ma,&nbsp;Qiulin Liu,&nbsp;Xueting Yu,&nbsp;Xiaojuan Zeng","doi":"10.1089/gtmb.2022.0201","DOIUrl":"https://doi.org/10.1089/gtmb.2022.0201","url":null,"abstract":"<p><p><b><i>Objectives:</i></b> This study was designed to analyze the association between the <i>SLC2A2</i> rs1499821 polymorphism and caries susceptibility in the Chinese Han, Zhuang, and Baikuyao populations. <b><i>Materials and Methods:</i></b> The present case-control study included 1067 12-year-old children: 481 with caries (142 Han, 166 Zhuang and 173 Baikuyao) and 586 who were caries-free (135 Han, 178 Zhuang and 273 Baikuyao). Questionnaires about diet and oral habits were obtained from all subjects. All of the children received dental examinations and DNA collection. The <i>SLC2A2</i> rs1499821 SNP was genotyped using the SNPscan technique. <b><i>Results:</i></b> The rs1499821 T polymorphism was significantly associated with caries susceptibility in both the Han population and the combined populations of the three ethnic subgroups. <i>SLC2A2</i> rs1499821 was associated with caries susceptibility in the dominant model in the Han (<i>p</i> = 0.045) population and the combined (<i>p</i> = 0.038) group. The CT+TT genotypes at rs1499821 were associated with a higher risk of caries in the Han (OR = 1.69, adjusted 95% CI: 1.01-2.81) and combined (OR = 1.33, adjusted 95% CI: 1.02-1.74) populations. In both Han (<i>p</i> = 0.009) and the combined populations (<i>p</i> = 0.004), there were statistically significant associations between the frequency of sweet food intake and dental caries. However, the rs1499821 polymorphisms did not associate with the frequency of sweet food intake in these ethnic subgroups. <b><i>Conclusion:</i></b> In the Han population, the <i>SLC2A2</i> rs1499821 T allele and the frequency of sweet food intake may be regarded as risk factors for caries susceptibility. The <i>SLC2A2</i> rs1499821 T allele had no association with the frequency of sweet food intake in any of the three ethnic groups.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 5","pages":"149-156"},"PeriodicalIF":1.4,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9561170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elevated Expression of <i>ADAM10</i> Induced by HPV E6 Influences the Prognosis of Cervical Cancer.","authors":"Xuewang Guo,&nbsp;Yu Dou,&nbsp;Shuiqingqing Liu,&nbsp;Yue Du,&nbsp;Ruimeng Guo,&nbsp;Yingying Yue,&nbsp;Yu Xu,&nbsp;Xueying Liu,&nbsp;Yanying Xu","doi":"10.1089/gtmb.2022.0170","DOIUrl":"https://doi.org/10.1089/gtmb.2022.0170","url":null,"abstract":"<p><p><b><i>Objective:</i></b> To explore the abnormal expression of <i>ADAM10</i>, its cause, and its clinical value in the prognosis of cervical lesions. <b><i>Methods:</i></b> The abnormal expression of <i>ADAM10</i> was explored using the Gene Expression Profiling Interactive Analysis database, and the abnormal expression in cervical lesions was verified using immunohistochemistry (IHC). The transfection effect of shRNA was evaluated using real-time quantitative reverse transcription-polymerase chain reaction (qRT-PCR). The expression of <i>ADAM10</i> in cells was analyzed using western blotting. <b><i>Results:</i></b> <i>ADAM10</i> was highly expressed in multiple cancers. As the disease progressed, the expression of <i>ADAM10</i> gradually increased (<i>p</i> < 0.05). Patients with higher expression of <i>ADAM10</i> had poorer survival outcomes than those with lower expression levels (<i>p</i> < 0.05). The expression levels of <i>ADAM10</i> decreased after expression levels of E6 was inhibited. <b><i>Conclusion:</i></b> <i>ADAM10</i> is highly expressed in cervical cancer; the higher the expression levels, the worse the survival outcome. HPV E6 is the critical driver of the elevated expression of <i>ADAM10</i> in cervical cancer.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 5","pages":"165-171"},"PeriodicalIF":1.4,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9936697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}