Pub Date : 2021-02-03DOI: 10.31901/245666330.2021/21.01.770
Jie Liu
In this study, Immunodeficiency Nude Mouse Osteosarcoma Xenograft Model was subjected to the drug intervention to explore the effect of bexarotene on the proliferation and invasion of osteosarcoma cell lines in vitro. The inhibitory effects of targeted regulatory genes on the proliferation and invasion of osteosarcoma cells were studied through various in vitro experiments include bioinformatics combined with tissue microarray research, transcription factor prediction combined with co-expression analysis to predict the transcription factor of targeted regulatory genes in osteosarcoma. The RXR protein family, LKB1, AMPK pathway, and mTOR are closely related to the body’s immune regulation. The oral administration of Bexarotene could inhibit the proliferation and able to up-regulate the expression of LKB1 gene in living osteosarcoma tissue. The xenograft model of immunodeficiency nude mice used in this study was reason for reduced the potential immunoregulatory effect of drug targeted LKB1 therapy to a certain extent. However, overexpression of LKB1 in vivo, and combined immunotherapy may become an important immunotherapy approach for osteosarcoma. LKB1 targeted therapy can potentially be used as one of the alternative treatments for mTOR inhibitors.
{"title":"Inhibitory Effects of Targeted Regulatory LKB1 Gene on the Proliferation and Invasion of Osteosarcoma Cells","authors":"Jie Liu","doi":"10.31901/245666330.2021/21.01.770","DOIUrl":"https://doi.org/10.31901/245666330.2021/21.01.770","url":null,"abstract":"In this study, Immunodeficiency Nude Mouse Osteosarcoma Xenograft Model was subjected to the drug intervention to explore the effect of bexarotene on the proliferation and invasion of osteosarcoma cell lines in vitro. The inhibitory effects of targeted regulatory genes on the proliferation and invasion of osteosarcoma cells were studied through various in vitro experiments include bioinformatics combined with tissue microarray research, transcription factor prediction combined with co-expression analysis to predict the transcription factor of targeted regulatory genes in osteosarcoma. The RXR protein family, LKB1, AMPK pathway, and mTOR are closely related to the body’s immune regulation. The oral administration of Bexarotene could inhibit the proliferation and able to up-regulate the expression of LKB1 gene in living osteosarcoma tissue. The xenograft model of immunodeficiency nude mice used in this study was reason for reduced the potential immunoregulatory effect of drug targeted LKB1 therapy to a certain extent. However, overexpression of LKB1 in vivo, and combined immunotherapy may become an important immunotherapy approach for osteosarcoma. LKB1 targeted therapy can potentially be used as one of the alternative treatments for mTOR inhibitors.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48268877","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 : 2021-01-15DOI: 10.31901/24566330.2021/21.01.771
N. Shar
ABSTRACT The demographic history of Homo sapiens is complex; it involves a wide range of migrations and genetic adaptations. One of the closely related species to Homo sapiens is Neanderthals, which became extinct about 30,000 years ago. The aim of this research is to compare Homo sapiens with Neanderthals and chimpanzees to understand the patterns of inheritance and survival instincts of Homo sapiens. Results show that out of all selected groups of genes in this study, metabolism, and language genes are found to be the most evolving group of genes. This shows that these most evolving genes are contributing to the advancement of Homo sapiens. However, after comparing human intelligence genes with the primates, it is found that exonic regions are contributing more to the evolution of human intelligence hence, making Homo sapiens unique in terms of intelligence.
{"title":"Evolutionary Patterns in the Genus Homo","authors":"N. Shar","doi":"10.31901/24566330.2021/21.01.771","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.01.771","url":null,"abstract":"ABSTRACT The demographic history of Homo sapiens is complex; it involves a wide range of migrations and genetic adaptations. One of the closely related species to Homo sapiens is Neanderthals, which became extinct about 30,000 years ago. The aim of this research is to compare Homo sapiens with Neanderthals and chimpanzees to understand the patterns of inheritance and survival instincts of Homo sapiens. Results show that out of all selected groups of genes in this study, metabolism, and language genes are found to be the most evolving group of genes. This shows that these most evolving genes are contributing to the advancement of Homo sapiens. However, after comparing human intelligence genes with the primates, it is found that exonic regions are contributing more to the evolution of human intelligence hence, making Homo sapiens unique in terms of intelligence.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43695248","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 : 2021-01-15DOI: 10.31901/24566330.2021/21.01.469
B. Reddy, Kumuda Irgam, Icmr Emeritus, Scientist
The researchers studied association of 92 SNPs of the metabolic and reproductive pathways genes in the obesity related cohorts of obese PCOS cases and non-obese controls, and non-obese PCOS cases and non-obese controls and observed eleven SNPs to be significantly associated (p < 0.05). While eight of those SNPs, five from FTO and one each from MTCH2, DENNDIA and THADA genes, were found to be associated in the first set involving obese PCOS cases, only three SNPs (IRS2-intronic, LOC107984901-intergenic and SUMO1P1-regulatory variants) showed association in the 2nd set involving non-obese cases. The SNPs associated in the two cohorts were distinct and mutually exclusive. However, all the SNPs associated in either obese or non-obese PCOS cohorts were not only risk-prone but also broadly represented a metabolic pathway, involving mostly obesity and T2DM related genes, prompting one to surmise if the recent spurt in PCOS prevalence is not driven by changes in the lifestyles.
{"title":"Distinct Genetic Susceptibility Patterns of the Obese and Non-obese South Indian Women with Polycystic Ovary Syndrome","authors":"B. Reddy, Kumuda Irgam, Icmr Emeritus, Scientist","doi":"10.31901/24566330.2021/21.01.469","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.01.469","url":null,"abstract":"The researchers studied association of 92 SNPs of the metabolic and reproductive pathways genes in the obesity related cohorts of obese PCOS cases and non-obese controls, and non-obese PCOS cases and non-obese controls and observed eleven SNPs to be significantly associated (p < 0.05). While eight of those SNPs, five from FTO and one each from MTCH2, DENNDIA and THADA genes, were found to be associated in the first set involving obese PCOS cases, only three SNPs (IRS2-intronic, LOC107984901-intergenic and SUMO1P1-regulatory variants) showed association in the 2nd set involving non-obese cases. The SNPs associated in the two cohorts were distinct and mutually exclusive. However, all the SNPs associated in either obese or non-obese PCOS cohorts were not only risk-prone but also broadly represented a metabolic pathway, involving mostly obesity and T2DM related genes, prompting one to surmise if the recent spurt in PCOS prevalence is not driven by changes in the lifestyles.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41856093","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 : 2020-10-25DOI: 10.31901/24566330.2020/20.04.767
Poulami Majumder
ABSTRACT This present study is aimed to find out the association of Cyclooxygenase2 or COX2 gene polymorphisms such as COX2-765C/G (rs20417), COX2-1195A/G (rs689466) and COX2+8473C/T (rs5275) gene polymorphism with chronic periodontitis in eastern Indian population. A case control study had been performed with a total of 357 participants where 157 identified as patients with chronic periodontitis and the rest 200 were taken as control population. All statistical analysis was performed in SNPassoc, Haploview, MDR 3.0.2 version software packages. The studied COX2 gene polymorphisms are genotypically significantly associated with studied CP population (de0.01). The mutant alleles of three polymorphisms COX2-765C/G, COX2-1195A/G and COX2+8473C/T are significantly associated to the increased susceptibility of CP (OR= 2.01, 95%CI= 1.475- 2.754, p<0.0001; OR= 1.7, 95%CI= 1.249-2.331, p=0.0008; OR= 2.2, 95%CI= 1.61-3.014, p<0.0001 respectively). There are four haplotypes CCA, TGG, TCG and CCG found to be related to the increasing risk of CP. All three COX2 gene polymorphisms are found to be significantly associated with chronic periodontitis increased susceptibility in studied population.
{"title":"Genetic Polymorphisms of Cyclooxygenase2 (COX2) Gene in Eastern Indian Chronic Periodontitis Patients","authors":"Poulami Majumder","doi":"10.31901/24566330.2020/20.04.767","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.04.767","url":null,"abstract":"ABSTRACT This present study is aimed to find out the association of Cyclooxygenase2 or COX2 gene polymorphisms such as COX2-765C/G (rs20417), COX2-1195A/G (rs689466) and COX2+8473C/T (rs5275) gene polymorphism with chronic periodontitis in eastern Indian population. A case control study had been performed with a total of 357 participants where 157 identified as patients with chronic periodontitis and the rest 200 were taken as control population. All statistical analysis was performed in SNPassoc, Haploview, MDR 3.0.2 version software packages. The studied COX2 gene polymorphisms are genotypically significantly associated with studied CP population (de0.01). The mutant alleles of three polymorphisms COX2-765C/G, COX2-1195A/G and COX2+8473C/T are significantly associated to the increased susceptibility of CP (OR= 2.01, 95%CI= 1.475- 2.754, p<0.0001; OR= 1.7, 95%CI= 1.249-2.331, p=0.0008; OR= 2.2, 95%CI= 1.61-3.014, p<0.0001 respectively). There are four haplotypes CCA, TGG, TCG and CCG found to be related to the increasing risk of CP. All three COX2 gene polymorphisms are found to be significantly associated with chronic periodontitis increased susceptibility in studied population.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42493272","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 : 2020-10-25DOI: 10.31901/24566330.2020/20.04.765
S. Denden
ABSTRACT The relationship between genetic variation and caffeinated beverages intake has been investigated in various human populations, but not among North Africans who have distinct caffeinated beverage dietary habits. Therefore, this study analysed the association between rs6968865 (AHR), rs382140 (NRCAM), rs9526558 (CAB39L), rs7754744 (PDSS2) and rs68157013 (TAS2R43) SNPs from previous GWASs on habitual caffeine consumption and caffeinated beverage intake in 568 healthy blood donors from the Tunisian population. The AHR caffeine metabolism gene SNP was associated with coffee intake but not with green tea decoction. However, the association of SNPs with caffeine metabolism (CAB39L and PDSS2), addiction to caffeine (NRCAM) and perceived caffeine bitterness (TAS2R43) genes was only observed or was stronger with the highest caffeine-containing beverage green tea decoction. The researchers further detected an opposite association of PDSS2 gene SNP with coffee and tea intake. The study provides additional data on caffeinated beverage intake genetics in a population with specific dietary habits
{"title":"Coffee and Green Tea Decoction Intake in the Tunisian Population According to Genetic Polymorphisms of Genes Involved in Habitual Caffeine Intake","authors":"S. Denden","doi":"10.31901/24566330.2020/20.04.765","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.04.765","url":null,"abstract":"ABSTRACT The relationship between genetic variation and caffeinated beverages intake has been investigated in various human populations, but not among North Africans who have distinct caffeinated beverage dietary habits. Therefore, this study analysed the association between rs6968865 (AHR), rs382140 (NRCAM), rs9526558 (CAB39L), rs7754744 (PDSS2) and rs68157013 (TAS2R43) SNPs from previous GWASs on habitual caffeine consumption and caffeinated beverage intake in 568 healthy blood donors from the Tunisian population. The AHR caffeine metabolism gene SNP was associated with coffee intake but not with green tea decoction. However, the association of SNPs with caffeine metabolism (CAB39L and PDSS2), addiction to caffeine (NRCAM) and perceived caffeine bitterness (TAS2R43) genes was only observed or was stronger with the highest caffeine-containing beverage green tea decoction. The researchers further detected an opposite association of PDSS2 gene SNP with coffee and tea intake. The study provides additional data on caffeinated beverage intake genetics in a population with specific dietary habits","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47656259","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 : 2020-10-11DOI: 10.31901/24566330.2020/20.04.768
Hilal Eser-Ozturk
{"title":"Investigation of Toll-like Receptor (TLR)-7 Gene Polymorphisms in Patients with Behçet Uveitis","authors":"Hilal Eser-Ozturk","doi":"10.31901/24566330.2020/20.04.768","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.04.768","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41372616","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 : 2020-09-05DOI: 10.31901/24566330.2020/20.04.762
Guangwei Xin
{"title":"MiR-610 Restrains the Proliferation and Invasion in Thyroid Cancer Cells by Modulating TAZ Expression","authors":"Guangwei Xin","doi":"10.31901/24566330.2020/20.04.762","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.04.762","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44337728","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 : 2020-07-26DOI: 10.31901/24566330.2020/20.03.752
T. Gurer
{"title":"Arf6 Expression in the Tissues of Patients with Colorectal Cancer","authors":"T. Gurer","doi":"10.31901/24566330.2020/20.03.752","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.03.752","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48099208","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 : 2020-07-15DOI: 10.31901/24566330.2020/20.03.751
Ming-Ying Lu
{"title":"Cytokine Gene Polymorphisms are associated with Risk of Recurrent Miscarriage","authors":"Ming-Ying Lu","doi":"10.31901/24566330.2020/20.03.751","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.03.751","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46285751","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 : 2020-07-13DOI: 10.31901/24566330.2020/20.03.755
Yang Hai
{"title":"Leptin-Induced Osteogenic Differentiation and Heterotopic Ossification of Achilles Tendon in TDSCsis inhibited by Rapamycin, an Inhibitor of mTORC1 Signaling Pathway","authors":"Yang Hai","doi":"10.31901/24566330.2020/20.03.755","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.03.755","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44960836","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}
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