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  • Open Access


    Optimized Decision Tree and Black Box Learners for Revealing Genetic Causes of Bladder Cancer

    Sait Can Yucebas*

    Intelligent Automation & Soft Computing, Vol.37, No.1, pp. 49-71, 2023, DOI:10.32604/iasc.2023.036871

    Abstract The number of studies in the literature that diagnose cancer with machine learning using genome data is quite limited. These studies focus on the prediction performance, and the extraction of genomic factors that cause disease is often overlooked. However, finding underlying genetic causes is very important in terms of early diagnosis, development of diagnostic kits, preventive medicine, etc. The motivation of our study was to diagnose bladder cancer (BCa) based on genetic data and to reveal underlying genetic factors by using machine-learning models. In addition, conducting hyper-parameter optimization to get the best performance from different models, which is overlooked in… More >

  • Open Access


    Biochemical association between the prevalence of genetic polymorphism and myocardial infarction


    BIOCELL, Vol.47, No.3, pp. 473-484, 2023, DOI:10.32604/biocell.2023.025930

    Abstract Genetic polymorphism has a vital role in the pathogenesis and development of myocardial infarction (MI). Single nucleotide polymorphism at any one of the amino acid sequences can result in a diseased state. A single gene can exhibit genetic polymorphism at more than one position giving rise to different variants. Genetic polymorphism of angiotensinogen (AGT) M235T, AGT T174M, and angiotensin-1-converting enzyme (ACE) I/D, endothelial nitric oxide synthase (eNOS), and methylenetetrahydrofolate reductase (MTHFR) can be a risk factor for MI. However, it is important to study the prevalence of genetic polymorphisms of these genes among different populations. MI is influenced by genetic… More >

  • Open Access


    Comparison of UGT1A1 Polymorphism as Guidance of Irinotecan Dose Escalation in RAS Wild-Type Metastatic Colorectal Cancer Patients Treated With Cetuximab or Bevacizumab Plus FOLFIRI as the First-Line Therapy

    Hsiang-Lin Tsai*†, Yen-Cheng Chen*‡, Tzu-Chieh Yin*§¶, Wei-Chih Su*‡, Po-Jung Chen*,Tsung-Kun Chang*†, Ching-Chun Li*, Ching-Wen Huang*†, Jaw-Yuan Wang*†‡#**††‡‡

    Oncology Research, Vol.29, No.1, pp. 47-61, 2021, DOI:10.3727/096504022X16451187313084

    Abstract Uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) polymorphism plays a crucial role in the increased susceptibility and toxicity of patients to irinotecan. This retrospective, observational study compared the clinical outcomes and adverse events (AEs) in RAS wild-type metastatic colorectal cancer (mCRC) patients treated with cetuximab or bevacizumab plus FOLFIRI with UGT1A1 genotyping and irinotecan dose escalation as the first-line therapy. In total, 173 patients with mCRC with RAS wild-type were enrolled. Among them, 98 patients were treated with cetuximab, whereas 75 patients were treated with bevacizumab. All patients received irinotecan dose escalation based on UGT1A1 genotyping. We compared the progression-free survival (PFS),… More >

  • Open Access


    STAT3 Polymorphism Associates With mTOR Inhibitor-Induced Interstitial Lung Disease in Patients With Renal Cell Carcinoma

    Kazuhiro Yamamoto*, Takeshi Ioroi*, Kazuaki Shinomiya, Ayaka Yoshida*, Kenichi Harada, Masato Fujisawa, Tomohiro Omura*, Yasuaki Ikemi§, Shunsaku Nakagawa§, Atsushi Yonezawa§, Osamu Ogawa, Kazuo Matsubara§, Takuya Iwamoto#, Kohei Nishikawa**, Sayaka Hayashi††, Daichi Tohara††, Yoji Murakami‡‡, Takanobu Motoshima‡‡, Hirofumi Jono††, Ikuko Yano

    Oncology Research, Vol.29, No.1, pp. 11-23, 2021, DOI:10.3727/096504022X16418911579334

    Abstract We evaluated the association of signal transducer and activator of transcription 3 (STAT3) polymorphisms with the incidence of mammalian target of rapamycin (mTOR) inhibitor-induced interstitial lung disease (ILD) in patients with renal cell carcinoma (RCC). We also used lung-derived cell lines to investigate the mechanisms of this association. Japanese patients with metastatic RCC who were treated with mTOR inhibitors were genotyped for the STAT3 polymorphism, rs4796793 (−1697C/G). We evaluated the association of the STAT3 genotype with the incidence of ILD and therapeutic outcome. In the 57 patients included in the primary analysis, the ILD rate within 140 days was significantly… More >

  • Open Access


    Relationship between PON-1 enzymatic activity and risk factors for pesticide poisoning in farmers from the Cienega, Jalisco, Mexico


    BIOCELL, Vol.45, No.5, pp. 1241-1250, 2021, DOI:10.32604/biocell.2021.015771

    Abstract Paraoxonase-1 (PON-1) is an enzyme that hydrolyzes organophosphate pesticides. The presence of polymorphisms in PON-1 (L55M and Q192R) decreases its enzyme activity and increases the risk of central nervous system (CNS) toxicity in occupationally exposed farmers, leading to chronic degenerative diseases and death. We studied 103 farmers in the region of Cienega Jalisco, Mexico, which were exposed mainly to organophosphate pesticides. We used serum and plasma samples to assay PON-1 activity and perform polymorphism analysis (L55M and Q192R) using qPCR and TaqMan probes, respectively. For both polymorphisms, there was high percentage of heterozygosity (55 LL = 0.19, LM = 0.75,… More >

  • Open Access


    Selection and Analysis of Polymorphisms in Somaclonal Variants of Agave americana Resistant to Fusarium oxysporum via an Ethyl Methanesulphonate Treatment

    Sheila Jazmín Reyes-Zambrano1,*, Carlos Alberto Lecona-Guzmán1, Federico Antonio Gutiérrez-Miceli1, Víctor Manuel Ruiz-Valdiviezo1, Arely Anayansi Vargas-Díaz2

    Phyton-International Journal of Experimental Botany, Vol.90, No.6, pp. 1727-1739, 2021, DOI:10.32604/phyton.2021.016171

    Abstract Agave americana L. callus were exposed to different concentrations of ethyl methanesulphonate (EMS) 0, 15, 30, 45 and 60 mM and to different times of exposure (2 and 4 h). The viability and capacity of shoot formation were shown to be affected when the callus were exposed to high concentrations (30–60 mM). Only the callus exposed to 15 mM EMS presented shoot formation; the exposure time of two hours produced the largest quantity of shoots regenerated per callus (21 shoots/callus). In order to generate somaclonal variants resistant to Fusarium oxysporum, a selection pressure was applied through of a culture filtrate… More >

  • Open Access


    Identification of Single Nucleotide Polymorphisms and Analysis of Linkage Disequilibrium in Different Bamboo Species Using the Candidate Gene Approach

    Xihua Liu1, Min Luo1, Xiaofei Chen1, Changjun Ding2,*

    Phyton-International Journal of Experimental Botany, Vol.90, No.6, pp. 1697-1709, 2021, DOI:10.32604/phyton.2021.015295

    Abstract Bamboos are one of the most beautiful and useful plants on Earth. The genetic background and population structure of bamboos are well known, which helps accelerate the process of artificial domestication of bamboo. Partial sequences of six genes involved in nitrogen use efficiency in 32 different bamboo species were analyzed for occurrence of single nucleotide polymorphisms (SNPs). The nucleotide diversity θw and total nucleotide polymorphisms πT of the sequenced DNA regions was 0.05137 and 0.03332, respectively. Both πnonsyn /πsyn and Ka/Ks values were <1. The nucleotide sequences of these six genes were inferred to be relatively conserved, and the haplotype… More >

  • Open Access


    Tolerance and Efficacy of Regorafenib according to UGT Pharmacogenetical Status in the Treatment of Metastatic Refractory Colorectal Cancer

    Pierre-Guillaume Poureau1,2,*, Estelle Dhamelincourt2, Jessica Nguyen2, Hélène Babey2, Emmanuelle Renaud2, Margaux Geier2, Michèle Boisdron-Celle3, Jean-Philippe Metges2

    Oncologie, Vol.23, No.2, pp. 195-202, 2021, DOI:10.32604/Oncologie.2021.015929

    Abstract Introduction: Regorafenib is a multi tyrosin-kinase inhibitor prescribed in metastatic refractory colorectal cancer treatment. Its toxicity is significant but inconstant. The metabolism of regorafenib includes oxydation via cytochrome P3A4, then glucuroconjugation. A pharmacogenetical approach of mutational status of Uridine-Diphospho-Glucuronosyltransfersase (UDP-glucuronosyl-transferase, UGT) could be a strategy to optimise the use of regorafenib. Patients and Method: This is a restrospective, unicentric study. All adult patients treated with regorafenib for a metastatic colorectal cancer in our center between 2013 and 2017 were analysed. UGT1A1 polypmorphism was previously researched in the laboratory after written informed consent. Results: Thirty-five patients received regorafenib during the study… More >

  • Open Access


    Development and characterization of Simple Sequence Repeat (SSR) markers from the genomic sequence of sweet potato [Ipomoea batatas L. (Lam)]


    BIOCELL, Vol.45, No.4, pp. 1095-1105, 2021, DOI:10.32604/biocell.2021.015053

    Abstract Sweet potato is a multifunctional root crop with many essential nutrients and bioactive compounds. Due to its genetic complexity and lack of genomic resources, efficient genetic studies and cultivar development lag far behind other major crops. Simple sequence repeats (SSRs) offer an effective molecular marker technology for molecular-based breeding and for locating important loci in crop plants, but only a few have previously been developed in sweet potato. To further explore new SSR markers and accelerate their use in sweet potato genetic studies, genome-wide characterization and development of SSR markers were performed using the recently published genome of sweet potato… More >

  • Open Access


    Newly identified genetic variant rs2294693 in UNC5CL gene is associated with decreased risk of esophageal carcinoma in the J&K Population–India


    BIOCELL, Vol.45, No.3, pp. 665-670, 2021, DOI:10.32604/biocell.2021.09629

    Abstract Esophageal cancer is the second most common type of cancer after lung carcinoma in the state of Jammu and Kashmir (J&K). The understanding of genetics in Esophageal cancer development is poor in the state. Genome wide association studies (GWAS) has proved to be unsurpassed tool in identification of new loci associated with different cancers. GWAS in Chinese population has identified SNP rs2294693 present in UNC5CL (UNC-5 Family C-Terminal like) to be associated with non-cardia gastric cancer. We performed a case control association study and genotyped the SNP rs2294693 using Taqman allele discrimination assay in 566 individuals (166 esophageal cancer patients… More >

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