Pharmacogenomics and Personalized Medicine最新文献

{"title":"Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the <i>NF1</i> Gene and a Mutation in <i>NR5A1</i>.","authors":"Lina Perafan-Valdes,&nbsp;Sebastian Giraldo-Ocampo,&nbsp;Juliana Lores,&nbsp;Harry Pachajoa","doi":"10.2147/PGPM.S380796","DOIUrl":"https://doi.org/10.2147/PGPM.S380796","url":null,"abstract":"<p><p>Neurofibromatosis type 1 is one of the most common genetic autosomal dominant disorders described, with a prevalence of 1 in 2000 to 1 in 3000 individuals. It is characterized by skin, nerves, and bone abnormalities. Non-related to NF1, hypospadias is a displacement in the urethral opening which in the majority of patients has an idiopathic cause. Here, we describe a patient with neurofibromatosis type 1, hypospadias, and unilateral cryptorchidism. The heterozygous variants c.6789_6792delTTAC, p.(Tyr2264Thrfs*5) and c.140A>G, p.(Tyr47Cys) were found in the <i>NF1</i> and <i>NR5A1</i> genes, respectively. This case contributes to the phenotypical characterization of patients with NF1 but also with hypospadias caused by a mutation in the <i>NR5A1</i> gene, which usually leads to severe sex disorders.</p>","PeriodicalId":509088,"journal":{"name":"Pharmacogenomics and Personalized Medicine","volume":" ","pages":"873-878"},"PeriodicalIF":1.9,"publicationDate":"2022-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/32/b9/pgpm-15-873.PMC9617560.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40460032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review.","authors":"Hang Yu,&nbsp;Wenwei Zhao,&nbsp;Yongqing Ni,&nbsp;Linlin Li","doi":"10.2147/PGPM.S381695","DOIUrl":"https://doi.org/10.2147/PGPM.S381695","url":null,"abstract":"<p><strong>Objective: </strong>Analyze the different clinical manifestations and genetic characteristics of Shwachman diamond syndrome (SDS).</p><p><strong>Methods: </strong>The clinical data of a case of neonatal onset Shwachman diamond syndrome with arrhythmia as the first manifestation were retrospectively analyzed, and the relevant literature was reviewed to summarize the clinical manifestations, genetic characteristics and treatment of Shwachman diamond syndrome.</p><p><strong>Results: </strong>The patient, female, age 1 month 24 days, with ventricular arrhythmia as the first manifestation, accompanied by growth retardation, liver damage, and persistent decrease in peripheral blood neutrophil count (< 1.5 × 10⁹/l), no pancreatic exocrine gland dysfunction at the initial stage of the disease. Gene detection showed that the SBDS gene chr7:66,459,197, c.258+2T > C homozygous variation.</p><p><strong>Conclusion: </strong>Although the classic manifestations of Shwachman diamond syndrome are pancreatic exocrine insufficiency, pancreatic adiposis and unexplained neutropenia, its clinical manifestations are complex and diverse, involving multiple systems. For suspected children, early genetic examination is helpful for subsequent diagnosis and treatment.</p>","PeriodicalId":509088,"journal":{"name":"Pharmacogenomics and Personalized Medicine","volume":" ","pages":"867-872"},"PeriodicalIF":1.9,"publicationDate":"2022-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4b/72/pgpm-15-867.PMC9569239.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40321933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Downregulation of Crystallin Lambda 1 is a New Independent Prognostic Marker in Clear Cell Renal Cell Carcinoma.","authors":"Lingsong Feng,&nbsp;Guodong Ding,&nbsp;Yang Zhou,&nbsp;Haiyuan Zhu,&nbsp;Huiming Jiang","doi":"10.2147/PGPM.S382564","DOIUrl":"https://doi.org/10.2147/PGPM.S382564","url":null,"abstract":"<p><strong>Background: </strong>Clear cell renal cell carcinoma (ccRCC), the most prevalent kidney cancer subtype, has a high mortality rate. Crystallin lambda 1 (CRYL1) encodes an enzyme that catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in uronate cycle. CRYL1 dysregulation has been linked to the progression of several cancers. This research aimed to evaluate the prognostic significance of CRYL1 expression in ccRCC prognosis.</p><p><strong>Methods: </strong>Clinical data and gene expression profiles on ccRCC were retrieved from the University of California Santa Cruz Xena platform. Differences (variations) in the expression profiles of CRYL1 in ccRCC and healthy tissues were found using RNA-sequencing data, and these findings were validated using qPCR with real-world samples. CRYL1 expression levels were also linked to clinicopathological characteristics, survival, and immune microenvironments. The potential pathway via which CRYL1 expression levels impact the prognosis of patients with ccRCC was investigated using gene set enrichment analysis (GSEA).</p><p><strong>Results: </strong>In ccRCC tissues, CRYL1 expression levels were lower compared to healthy renal tissues in TCGA cohort (n = 535, <i>P</i> < 0.001), which was validated in another real-world cohort (n = 14, <i>P</i> < 0.001). Lower CRYL1 expression levels were linked to unfavorable clinicopathological characteristics and prognoses (<i>P</i> < 0.001). According to multivariate Cox regression analysis (P < 0.001), CRYL1 expression levels in patients with ccRCC could serve as an independent prognostic indicator. Furthermore, a strong link between CRYL1 expression levels and immune microenvironment was observed (<i>P</i> < 0.001). Finally, GSEA revealed that CRYL1 expression levels (P < 0.001) were associated with fatty acid metabolism, G2M checkpoint delays, and epithelial-mesenchymal transitions in ccRCC.</p><p><strong>Conclusion: </strong>Our study found that lower levels of CRYL1 expression were linked to unfavorable clinicopathological characteristics and worse prognoses, and CRYL1 could serve as a new target for the treatment of ccRCC, which is useful for personalized medicine.</p>","PeriodicalId":509088,"journal":{"name":"Pharmacogenomics and Personalized Medicine","volume":" ","pages":"857-866"},"PeriodicalIF":1.9,"publicationDate":"2022-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/85/f0/pgpm-15-857.PMC9563328.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33514248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of <i>CYP7A1</i> and <i>CYP2E1</i> Polymorphisms with Type 2 Diabetes in the Chinese Han Populations.","authors":"Lihong Zhang,&nbsp;Jingjing Tang,&nbsp;Yindi Wang,&nbsp;Xiang Wang,&nbsp;Fang Wang","doi":"10.2147/PGPM.S367806","DOIUrl":"https://doi.org/10.2147/PGPM.S367806","url":null,"abstract":"<p><strong>Background: </strong>Type 2 diabetes mellitus (T2DM) is caused by diverse environmental and genetic risk factors. Previous studies have reported that cytochrome P450 (<i>CYP</i>) is a promising gene for T2DM. Therefore, we aimed to determine the effects of <i>CYP7A1</i> and <i>CYP2E1</i> polymorphisms on T2DM susceptibility among the Chinese Han population.</p><p><strong>Methods: </strong>A case-control study was conducted to assess the potential relationship of four polymorphisms (rs8192879, rs12542233, rs2070672 and rs2515641) with T2DM susceptibility in the Chinese population, involving 512 T2DM patients and 515 age- and gender-matched healthy individuals. We used the Agena MassARRAY platform to detect <i>CYP7A1</i> and <i>CYP2E1</i> polymorphisms. The relationship between genetic polymorphisms and T2DM risk was evaluated using odds ratios (ORs) and 95% confidence intervals (CIs) in various genetic models.</p><p><strong>Results: </strong>After adjusting for age and gender, rs12542233 in the <i>CYP7A1</i> gene was significantly associated with decreased T2DM risk (recessive: OR = 0.67, 95% CI = 0.49-0.91, <i>p</i> = 0.012; after FDR correction, <i>p</i> = 0.048). The <i>CYP7A1</i> rs12542233 was associated with a reduced risk of T2DM in people over 59 years of age (<i>p</i> = 0.010). In the population with BMI ≤ 24 kg/m², <i>CYP7A1</i> rs12542233 was associated with an increased risk of T2DM (<i>p</i> < 0.05). In the population with BMI > 24 kg/m², <i>CYP2E1</i> rs2515641 can significantly reduce the risk of T2DM (<i>p</i> < 0.05). And rs8192879, rs2070672 and rs2515641 could significantly increase the risk of diabetes retinopathy in T2DM patients (<i>p</i> < 0.05). Furthermore, the T_rs8192879C_rs12542233 haplotype was significantly associated with T2DM (<i>p</i> = 0.019).</p><p><strong>Conclusion: </strong><i>CYP7A1</i> and <i>CYP2E1</i> polymorphisms may contribute to T2DM susceptibility in the Chinese Han population, especially in stratified analysis.</p>","PeriodicalId":509088,"journal":{"name":"Pharmacogenomics and Personalized Medicine","volume":" ","pages":"843-855"},"PeriodicalIF":1.9,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/46/ce/pgpm-15-843.PMC9509678.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40379985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contribution of <i>ZBTB20</i> Polymorphisms to Esophageal Cancer Risk Among the Chinese Han Population.","authors":"Shuyong Yu,&nbsp;Guihong Yuan,&nbsp;Feixiang Hu,&nbsp;Yongyu Li,&nbsp;Zhuang Chen,&nbsp;Ronglin Zhang,&nbsp;Ping Li,&nbsp;Zhaowei Chen,&nbsp;Jian Song","doi":"10.2147/PGPM.S370963","DOIUrl":"https://doi.org/10.2147/PGPM.S370963","url":null,"abstract":"<p><strong>Background: </strong><i>ZBTB20</i> was overexpressed in esophageal cancer (EC). The study aimed to identify genotypes of <i>ZBTB20</i> polymorphisms and their correlation with EC occurrence in a Chinese Han population.</p><p><strong>Methods: </strong>Four single nucleotide polymorphisms (SNPs) in <i>ZBTB20</i> were randomly selected for genotyping through Agena MassARRAY system among 525 EC patients and 522 healthy controls. Multiple genetic models were applied to assess the association of <i>ZBTB20</i> polymorphisms with EC susceptibility by calculating odds ratios (ORs) with 95% confidence intervals (CIs).</p><p><strong>Results: </strong>Rs10934270 was associated with lower EC susceptibility (OR = 0.64, <i>p</i> = 0.004) with statistical power >90% in overall analysis. Specifically, the correlation of rs10934270 with EC susceptibility was found in subgroups including patients with esophageal squamous cell carcinoma (ESCC), males, subjects aged ≤65 years, subjects with BMI ≤ 24 kg/m², and smokers. Rs9841504 might be a risk-increasing factor for ESCC. Moreover, rs9288999 in subjects aged ≤65 years and rs73230612 in females were related to lower EC risk.</p><p><strong>Conclusion: </strong>Our research is the first to report that <i>ZBTB20</i> rs10934270 is associated with reduced EC susceptibility in the Chinese Han population. These data provide a scientific basis for understanding the influence of the <i>ZBTB20</i> gene on EC occurrence.</p>","PeriodicalId":509088,"journal":{"name":"Pharmacogenomics and Personalized Medicine","volume":" ","pages":"827-842"},"PeriodicalIF":1.9,"publicationDate":"2022-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/72/64/pgpm-15-827.PMC9512063.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40382017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Association Between Genetic Polymorphisms of Transporter Genes and Prognosis of Platinum-Based Chemotherapy in Lung Cancer Patients.","authors":"Jia He,&nbsp;Zhan Wang,&nbsp;Ting Zou,&nbsp;Ying Wang,&nbsp;Xiang-Ping Li,&nbsp;Juan Chen","doi":"10.2147/PGPM.S375284","DOIUrl":"https://doi.org/10.2147/PGPM.S375284","url":null,"abstract":"<p><strong>Objective: </strong>Platinum-based chemotherapy is the first-line treatment of lung cancer. However, different individual and genetic variation effect therapy for lung cancer. The purpose of this study was to evaluate the association between transport genes genetic polymorphisms and the prognosis of platinum-based chemotherapy in lung cancer patients.</p><p><strong>Methods: </strong>A series of 593 patients with treatment of platinum-based chemotherapy were recruited for this study. A total of 21 single-nucleotide polymorphisms in nine transporter genes were selected to investigate their associations with platinum-based chemotherapy prognosis.</p><p><strong>Results: </strong>Patients with ABCG2 rs1448784 CC genotype had a significantly shorter PFS than CT or TT genotypes (Additive model: HR = 1.54, 95% CI = 1.02-2.35, <i>P</i> = 0.040). In stratification analysis, SLC22A2 rs316003, SLC2A1 rs4658 were related to PFS and AQP9 rs1867380, SLC2A1 rs3820589, SLC22A2 rs316003 indicated were related to OS of platinum-based chemotherapy prognosis.</p><p><strong>Conclusion: </strong>Genetic polymorphisms of rs1448784 in ABCG2 might be potential clinical marker for predicting the prognosis of lung cancer patients treated with platinum-based chemotherapy.</p>","PeriodicalId":509088,"journal":{"name":"Pharmacogenomics and Personalized Medicine","volume":" ","pages":"817-825"},"PeriodicalIF":1.9,"publicationDate":"2022-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b9/f2/pgpm-15-817.PMC9484078.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33466927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"IL-10 rs1800896 Polymorphism: A Risk Factor for Adult Acute Lymphoblastic Leukemia.","authors":"Ezeldine K Abdalhabib,&nbsp;Badr Alzahrani,&nbsp;Muhammad Saboor,&nbsp;Alneil Hamza,&nbsp;Elyasa M Elfaki,&nbsp;Fehaid Alanazi,&nbsp;Fawaz O Alenazy,&nbsp;Abdulrahman Algarni,&nbsp;Ibrahim Khider Ibrahim,&nbsp;Hozifa A Mohamed,&nbsp;Ayman Hussein Alfeel,&nbsp;Nahla Ali Alshaikh","doi":"10.2147/PGPM.S377356","DOIUrl":"https://doi.org/10.2147/PGPM.S377356","url":null,"abstract":"<p><strong>Purpose: </strong>Single-nucleotide polymorphism (SNP) in the promoter region of the IL-10 gene can increase susceptibility to tumor development. The current study aimed to explore the genotypic frequency of interleukin-10 (IL-10) rs1800896 polymorphism in newly diagnosed adult patients with acute lymphoblastic leukemia (ALL) and validate whether this SNP is a risk factor for adult ALL.</p><p><strong>Patients and methods: </strong>This case-control study was based on a subset of newly diagnosed 154 adult patients with ALL recruited from the Radiation and Isotope Center in Khartoum (RICK) and 154 healthy controls from the same geographical area. Genomic DNA was used for the genotyping of rs1800896 polymorphism through allele-specific polymerase chain reaction (PCR) assays.</p><p><strong>Results: </strong>The genotypic frequencies of rs1800896 showed a statistically significant association of AG and AA genotypes with adult ALL (<i>p</i><0.001). Combined genotypes AG+GG vs AA also showed a positive association of rs1800896 with adult ALL (OR=4.89). The allelic frequencies of G and A did not show any significant difference in adult patients with ALL compared with the control group. AG rs1800896 genotype showed an increased risk of B and T ALL (OR=2.51 and 4.70, respectively). Age at diagnosis, gender, and immunophenotype (B vs T ALL) did not exhibit any association of rs1800896 with ALL in this patient group.</p><p><strong>Conclusion: </strong>rs1800896 polymorphism is associated with an increased risk of ALL in adult patients irrespective of the age at diagnosis, gender, and immunophenotype of ALL.</p>","PeriodicalId":509088,"journal":{"name":"Pharmacogenomics and Personalized Medicine","volume":" ","pages":"809-815"},"PeriodicalIF":1.9,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a9/69/pgpm-15-809.PMC9480578.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40368890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>PFKP</i> and <i>GPC6</i> Variants Were Correlated with Alcohol-Induced Femoral Head Necrosis Risk in the Chinese Han Population.","authors":"Chang Liu,&nbsp;Xuan Liu,&nbsp;Xiaolin Li","doi":"10.2147/PGPM.S369957","DOIUrl":"https://doi.org/10.2147/PGPM.S369957","url":null,"abstract":"<p><strong>Background: </strong>Osteonecrosis of the femoral head (ONFH) is a common joint disease caused by excessive drinking, genetic factors, etc. The purpose of this study was to investigate the association between <i>PFKP</i> and <i>GPC6</i> variants and alcohol-induced ONFH (AIONFH) risk in the Chinese Han population.</p><p><strong>Methods: </strong>This study genotyped 9 selected single nucleotide polymorphisms (SNPs) in 402 males by Agena MassARRAY Assay. By calculating odds ratios (ORs) and 95% confidence intervals (CIs), we assessed the effect of gene polymorphisms on AIONFH occurrence. False-positive report probability (FPRP) analysis and power were also used to evaluate the significant results. Multifactor dimensionality reduction (MDR) software was also utilized to predict the association between the selected SNPs and AIONFH risk.</p><p><strong>Results: </strong>The overall analysis showed that <i>PFKP</i> rs10903966 and <i>GPC6</i> rs7320969 were correlated with AIONFH risk. <i>GPC6</i> rs4773724 was associated with a reduced risk of AIONFH, while individuals with <i>GPC6</i> rs9523981 CC genotype had a higher risk of AIONFH than individuals with the other genotypes among people under 42 years old. Based on stratified analysis of necrotic sites, rs7320969 was related to a decreased risk of AIONFH, while rs10903966 and rs9523981 were related to an increased risk of AIONFH. In addition, rs1008993 and rs7320969 were observed to be linked to AIONFH risk in patients at different clinical stages. Meanwhile, there were significant differences in TC, TG, platelet, ApoA1 and ApoB levels among subjects with different genotypes of rs1008993, rs9523981, rs7320969 and rs59624626. The results of MDR showed that rs11251720 and rs7320969 may play a synergistic role in predicting the risk of AIONFH.</p><p><strong>Conclusion: </strong><i>PFKP</i> rs10903966 and <i>GPC6</i> rs9523981 were associated with an increased risk of AIONFH, while GPC6 (rs7320969 and rs4773724) were correlated with a decreased risk of AIONFH. This result will need further experiments to verify.</p>","PeriodicalId":509088,"journal":{"name":"Pharmacogenomics and Personalized Medicine","volume":" ","pages":"797-808"},"PeriodicalIF":1.9,"publicationDate":"2022-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/97/07/pgpm-15-797.PMC9469939.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40362307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression Profile and Bioinformatics Analysis of Circular RNAs in Patients with Vitiligo.","authors":"Rongxin Zhang,&nbsp;Zhao Hou,&nbsp;Kexin Liao,&nbsp;Chao Yu,&nbsp;Rongrong Jing,&nbsp;Caixia Tu","doi":"10.2147/PGPM.S371107","DOIUrl":"https://doi.org/10.2147/PGPM.S371107","url":null,"abstract":"Purpose Circular RNAs (circRNAs) are abundant, stable, and evolutionarily conserved noncoding RNAs with impacts on cell proliferation, differentiation, invasion, apoptosis, and immunity by acting as an miRNA sponge. This study aimed to investigate the expression of circRNAs in vitiligo and analyze the differentially expressed circRNAs (DEcircRNAs) bioinformatically. Patients and Methods Biopsies of five lesional and five nonlesional skins of patients with vitiligo and five healthy skins (control) were harvested in this study. The expression profiles of circRNAs and DEcircRNAs were determined by microarray analysis and qRT-PCR. Bioinformatics analysis was used to predict target genes of DEcircRNAs binding to miRNAs and their underlying functions. Meanwhile, a competing endogenous RNA (ceRNA) network was constructed using Cytoscape. Results A total of 817 and 508 DEcircRNAs were identified in lesional and nonlesional skins of patients with vitiligo, respectively. The results of hsa_circRNA_000957 and hsa_circRNA_101798 validation were consistent with our microarray analysis. Furthermore, 32 miRNA response elements (MREs) and related target genes of DEcircRNAs were identified, whose main functions were involved in the pathogenesis of vitiligo. Hsa_circRNA_000957 and hsa_circRNA_101798 might be candidate biomarkers for vitiligo. Conclusion This study provides scientific clues for understanding the mechanism of vitiligo.","PeriodicalId":509088,"journal":{"name":"Pharmacogenomics and Personalized Medicine","volume":" ","pages":"785-796"},"PeriodicalIF":1.9,"publicationDate":"2022-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/08/49/pgpm-15-785.PMC9451056.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33461324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk Factors and Predictive Model for Dermatomyositis Associated with Rapidly Progressive Interstitial Lung Disease.","authors":"Kai Wang,&nbsp;Yian Tian,&nbsp;Shanshan Liu,&nbsp;Zhongyuan Zhang,&nbsp;Leilei Shen,&nbsp;Deqian Meng,&nbsp;Ju Li","doi":"10.2147/PGPM.S369556","DOIUrl":"https://doi.org/10.2147/PGPM.S369556","url":null,"abstract":"<p><strong>Background: </strong>Rapidly progressive interstitial lung disease (RP-ILD) is a significant complication that determines the prognosis of dermatomyositis (DM). Early RP-ILD diagnosis can improve screening and diagnostic efficiency and provide meaningful guidance to carry out early and aggressive treatment.</p><p><strong>Methods: </strong>A retrospective screening of 284 patients with DM was performed. Clinical and laboratory characteristics of the patients were recorded. The risk factors of RP-ILD in DM patients were screened by logistic regression (LR) and machine learning methods, and the prediction models of RP-ILD were developed by machine learning methods, namely least absolute shrinkage and selection operator (LASSO), random forest (RF), and extreme gradient boosting (XGBoost).</p><p><strong>Results: </strong>According to the result of univariate LR, disease duration is a protective factor for RP-ILD, and ESR, CRP, anti-Ro-52 antibody and anti-MDA5 antibody are risk factors for RP-ILD. The top 10 important variables of the 3 machine learning models were intersected to obtain common important variables, and there were 5 common important variables, namely disease duration, LDH, CRP, anti-Ro-52 antibody and anti-MDA5 antibody. The AUC of LASSO, RF and XGBoost test set were 0.661, 0.667 and 0.867, respectively. We further validated the performance of these three models on validation set, and the results showed that, the AUC of LASSO, RF and XGBoost were 0.764, 0.727 and 0.909, respectively. Based on the results of the models, XGBoost is the optimal model in this study.</p><p><strong>Conclusion: </strong>Disease duration, LDH, CRP, anti-Ro-52 antibody and anti-MDA5 antibody are vital risk factors for RP-ILD in DM. The prediction model constructed using XGBoost can be used for risk identification and early intervention in DM patients with RP-ILD and practical application.</p>","PeriodicalId":509088,"journal":{"name":"Pharmacogenomics and Personalized Medicine","volume":" ","pages":"775-783"},"PeriodicalIF":1.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d5/32/pgpm-15-775.PMC9444234.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33447789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}