Pub Date : 2024-07-23DOI: 10.3103/s0095452724040091
Istemi Serin, Yasemin Oyaci, Mustafa Pehlivan, Ilknur Demir, Burcak Demir, Tahir Alper Cinli, Osman Yokus, Sacide Pehlivan
Abstract
Leptin is mainly produced from adipose tissue and released into the circulation. Circulating leptin binds to the leptin receptor (LEPR) in the brain, which activates signaling pathways that inhibit feeding and promote calorie expenditure. The leptin receptor (LEPR, also known as Ob-R) gene is located at chromosome 1p31. DNA methylation consists of addition a methyl group at position 5′ of the pyrimidine ring of the cytosines upstream of a guanine (dinucleotide CpG) catalyzed by DNA methyltransferases. Methylation of cytosine in CpG sites is an important epigenetic modification way that could suppress the gene expression. This study was conducted to reveal the role of leptin (-2548 G/A, rs7799039) and LEPR (-668 A/G, rs113711) gene polymorphisms in patients diagnosed with multiple myeloma (MM). Patients who were diagnosed with MM and followed-up in our clinic between January 2010 and January 2022 were included in the study. The genotypes of the leptin (-2548 G/A, rs7799039) and LEPR (-668 A/G, rs113711) genes were statistically compared between patients and healthy controls. Additionally, the statistically significant effects of these genotypes on survival were examined. In addition, the methylation status of the patients was compared to the healthy control group, and the effect on survival was evaluated. A total of 300 patients diagnosed with MM and 170 individuals to form a healthy control group were included in this study. In the statistical analysis performed to investigate the effect of leptin and LEPR gene polymorphisms on disease susceptibility, GA and AA genotypes of the leptin gene were found to be significantly higher in the patient group compared to healthy controls. In the statistical analysis for -31 NT and -51 NT methylation of the leptin gene, -51 NT methylation was found to be significantly higher in healthy controls (p = 0.002). In the survival analysis, progression-free survival (PFS) of patients with GG genotype of the LEPR gene was found to be significantly shorter compared to others, there was no effect on the overall survival. In the multivariate analysis, it was revealed that the PFS of patients with GG genotype of the LEPR gene was 2.02 times shorter compared to others (RR: 2.017; CI: 1.191–3.418, p = 0.009). MM and leptin polymorphisms have significant features in terms of both disease susceptibility and treatment response.
{"title":"How Effective are leptin Gene Polymorphisms and Methylation during the Course of Multiple Myeloma?","authors":"Istemi Serin, Yasemin Oyaci, Mustafa Pehlivan, Ilknur Demir, Burcak Demir, Tahir Alper Cinli, Osman Yokus, Sacide Pehlivan","doi":"10.3103/s0095452724040091","DOIUrl":"https://doi.org/10.3103/s0095452724040091","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Leptin is mainly produced from adipose tissue and released into the circulation. Circulating leptin binds to the leptin receptor (LEPR) in the brain, which activates signaling pathways that inhibit feeding and promote calorie expenditure. The leptin receptor (<i>LEPR</i>, also known as <i>Ob-R</i>) gene is located at chromosome 1p31. DNA methylation consists of addition a methyl group at position 5′ of the pyrimidine ring of the cytosines upstream of a guanine (dinucleotide CpG) catalyzed by DNA methyltransferases. Methylation of cytosine in CpG sites is an important epigenetic modification way that could suppress the gene expression. This study was conducted to reveal the role of <i>leptin</i> (-2548 G/A, rs7799039) and <i>LEPR</i> (-668 A/G, rs113711) gene polymorphisms in patients diagnosed with multiple myeloma (MM). Patients who were diagnosed with MM and followed-up in our clinic between January 2010 and January 2022 were included in the study. The genotypes of the <i>leptin</i> (-2548 G/A, rs7799039) and <i>LEPR</i> (-668 A/G, rs113711) genes were statistically compared between patients and healthy controls. Additionally, the statistically significant effects of these genotypes on survival were examined. In addition, the methylation status of the patients was compared to the healthy control group, and the effect on survival was evaluated. A total of 300 patients diagnosed with MM and 170 individuals to form a healthy control group were included in this study. In the statistical analysis performed to investigate the effect of <i>leptin</i> and <i>LEPR</i> gene polymorphisms on disease susceptibility, GA and AA genotypes of the <i>leptin</i> gene were found to be significantly higher in the patient group compared to healthy controls. In the statistical analysis for -31 NT and -51 NT methylation of the <i>leptin</i> gene, -51 NT methylation was found to be significantly higher in healthy controls (<i>p</i> = 0.002). In the survival analysis, progression-free survival (PFS) of patients with GG genotype of the <i>LEPR</i> gene was found to be significantly shorter compared to others, there was no effect on the overall survival. In the multivariate analysis, it was revealed that the PFS of patients with GG genotype of the <i>LEPR</i> gene was 2.02 times shorter compared to others (RR: 2.017; CI: 1.191–3.418, <i>p</i> = 0.009). MM and <i>leptin</i> polymorphisms have significant features in terms of both disease susceptibility and treatment response.</p>","PeriodicalId":11032,"journal":{"name":"Cytology and Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141779239","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}
Pub Date : 2024-07-23DOI: 10.3103/s0095452724040042
Anjali Choudhary, M. Joel Devadasan, Nidhi Sukhija, K. K. Kanaka, D. Ravi Kumar, M. R. Vineeth, T. Surya, Archana Verma, S. K. Niranjan, Jayakumar Sivalingam
Abstract
The study was carried out in Gir cattle for identification of genome wide SNPs and then to annotate the identified high-quality SNPs to the milk production traits. A total of 99 517 SNPs were identified with respect to the Bos indicus reference genome. Upon annotation of SNPs identified with respect to Bos indicus reference genome, 984 SNPs located in 175 candidate genes related with milk production traits, notably Acetyl-CoA carboxylase β gene, which affects milk composition traits by regulation of fatty acid oxidation in the mitochondria; Growth hormone receptor gene which have role in milk yield and its composition traits; LEP gene, involved in energy partitioning and metabolism, were among others. This study provides the first analysis of ddRAD sequences to discover SNPs in Indian Gir cattle breed, aligned to indicine reference genome. The variants mined in this study can be incorporated in existing SNP chips and thus, play an important role in understanding the genetic structure of our cattle in order to design appropriate breed improvement programmes.
{"title":"Genome-Wide Identification of SNPs and Their Annotation in Indian Gir Cattle","authors":"Anjali Choudhary, M. Joel Devadasan, Nidhi Sukhija, K. K. Kanaka, D. Ravi Kumar, M. R. Vineeth, T. Surya, Archana Verma, S. K. Niranjan, Jayakumar Sivalingam","doi":"10.3103/s0095452724040042","DOIUrl":"https://doi.org/10.3103/s0095452724040042","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The study was carried out in Gir cattle for identification of genome wide SNPs and then to annotate the identified high-quality SNPs to the milk production traits. A total of 99 517 SNPs were identified with respect to the <i>Bos indicus</i> reference genome. Upon annotation of SNPs identified with respect to <i>Bos indicus</i> reference genome, 984 SNPs located in 175 candidate genes related with milk production traits, notably Acetyl-CoA carboxylase β gene, which affects milk composition traits by regulation of fatty acid oxidation in the mitochondria; Growth hormone receptor gene which have role in milk yield and its composition traits; LEP gene, involved in energy partitioning and metabolism, were among others. This study provides the first analysis of ddRAD sequences to discover SNPs in Indian Gir cattle breed, aligned to indicine reference genome. The variants mined in this study can be incorporated in existing SNP chips and thus, play an important role in understanding the genetic structure of our cattle in order to design appropriate breed improvement programmes.</p>","PeriodicalId":11032,"journal":{"name":"Cytology and Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141779237","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}
Pub Date : 2024-07-23DOI: 10.3103/s0095452724040054
L. V. Garmanchuk, G. V. Ostrovska, I. A. Stupak, T. V. Bukreieva, O. I. Gorbach, L. I. Ostapchenko
Abstract
This paper concerns the effect produced by the components of a conditioned medium (K‑medium), in which mesenchymal human placenta cells (hP-MSC) are cultivated, on the characteristics of Lewis lung carcinoma (LLC) cells in the culture. It is shown for the first time that the K-medium (secretome) components have a prooncogenic effect on LLC cells as evidence by an increase in cell survival rates, LLC cell proliferation stimulation, and a decrease in the level of apoptotic cells. The effect of the K-medium on the adhesion characteristics of LLC cells in the process of their monolayer growth and migration from 3D-cultures is also demonstrated. When the hP-MSC secretome interacts with the cultured LLC cells, the production of proinflammatory cytokines TGF β and Il-6 is observed to grow. At the same time, the proangiogenic factor VEGF remains almost at the same level. Similar changes in the microenvironment during the interaction of mesenchymal and tumor cells may underlie various prooncogenic effects observed in our previous studies with different MSC inoculation methods during the development and metastasis of Lewis lung carcinoma in vivo.
{"title":"Effect of the Secretome of Mesenchymal Placenta Stem Cells on the Functional Properties of Lewis Lung Carcinoma Cells In Vitro","authors":"L. V. Garmanchuk, G. V. Ostrovska, I. A. Stupak, T. V. Bukreieva, O. I. Gorbach, L. I. Ostapchenko","doi":"10.3103/s0095452724040054","DOIUrl":"https://doi.org/10.3103/s0095452724040054","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>This paper concerns the effect produced by the components of a conditioned medium (K‑medium), in which mesenchymal human placenta cells (hP-MSC) are cultivated, on the characteristics of Lewis lung carcinoma (LLC) cells in the culture. It is shown for the first time that the K-medium (secretome) components have a prooncogenic effect on LLC cells as evidence by an increase in cell survival rates, LLC cell proliferation stimulation, and a decrease in the level of apoptotic cells. The effect of the K-medium on the adhesion characteristics of LLC cells in the process of their monolayer growth and migration from 3D-cultures is also demonstrated. When the hP-MSC secretome interacts with the cultured LLC cells, the production of proinflammatory cytokines TGF β and Il-6 is observed to grow. At the same time, the proangiogenic factor VEGF remains almost at the same level. Similar changes in the microenvironment during the interaction of mesenchymal and tumor cells may underlie various prooncogenic effects observed in our previous studies with different MSC inoculation methods during the development and metastasis of Lewis lung carcinoma in vivo.</p>","PeriodicalId":11032,"journal":{"name":"Cytology and Genetics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141779072","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}