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The purpose of this paper is to systematically summarize the gene polymorphisms associated with osteoporosis(OP)susceptibility in Zhuang ethnic group in Guangxi.These genes mainly encode vitamin D receptor,estrogen receptor,calcitonin receptor,and adiponectin.The genotype and allele distribution frequency were compared between Zhuang ethnic group and other ethnic groups,which can clarify the existing genes and the potential gene polymorphism associated with OP in Zhuang ethnic group.The findings provide a representative solution for the subsequent research on the genes associated with OP susceptibility in ethnic minorities.
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Etnicidade , Osteoporose , Humanos , Etnicidade/genética , China , Polimorfismo Genético , Frequência do Gene , Osteoporose/genéticaRESUMO
To investigate the potential of H2-calponin (CNN2) as a serum biomarker for hepatocellular carcinoma (HCC), this study employed the serological analysis of recombinantly expressed cDNA clone (SEREX) technique to identify the presence of CNN2 antibody in the serum of patients with HCC and other tumors. The CNN2 protein was produced through genetic engineering and used as an antigen to determine the positive rate of serum CNN2 autoantibodies via indirect enzyme-linked immunosorbent assay (ELISA). In addition, the mRNA and protein expressions of CNN2 in cells and tissues were evaluated using RT-PCR, in situ RT-PCR, and immunohistochemistry methods. The HCC group exhibited a significantly higher positive rate of anti-CNN2 antibody (54.8%) compared to gastric cancer (6.5%), lung cancer (3.2%), rectal cancer (9.7%), hepatitis (3.2%), liver cirrhosis (3.2%), and normal tissues (3.1%). The positive rates of CNN2 mRNA in HCC with metastasis, non-metastatic HCC, lung cancer, gastric cancer, nasopharyngeal cancer, liver cirrhosis, and hepatitis were 56.67%, 41.67%, 17.5%, 10.0%, 20.0%, 53.13%, and 41.67%, respectively. Meanwhile, the positive rates of CNN2 protein were 63.33%, 37.5%, 17.5%, 27.5%, 45%, 31.25%, and 20.83%, respectively. The down-regulation of CNN2 could inhibit the migration and invasion of liver cancer cells. CNN2 is a newly identified HCC-associated antigen that is implicated in the migration and invasion of liver cancer cells, making it a promising target for liver cancer therapy.
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Carcinoma Hepatocelular , Neoplasias Hepáticas , Neoplasias Nasofaríngeas , Humanos , Neoplasias Hepáticas/metabolismo , Carcinoma Hepatocelular/metabolismo , Autoanticorpos , Cirrose Hepática , RNA Mensageiro , Biomarcadores Tumorais/genética , CalponinasRESUMO
OBJECTIVES: The Jing people are a recognized ethnic group in Guangxi, southwest China, who are the immigrants from Vietnam during the 16th century. They speak Vietnamese but with lots of language borrowings from Cantonese, Zhuang, and Mandarin. However, it's unclear if there is large-scale gene flow from surrounding populations into Jing people during their language change due to the very limited genetic information of this population. MATERIALS AND METHODS: We collected blood samples from 37 Jing and 3 Han Chinese individuals from Wanwei, Shanxin, and Wutou islands in Guangxi and genotyped about 600,000 genome-wide single nucleotide polymorphisms (SNPs). We used Principal Component Analysis (PCA), ADMIXTURE analysis, f statistics, qpWave and qpAdm to infer the population genetic structure and admixture. RESULTS: Our data revealed that the Jing people are genetically similar to the populations in southwest China and mainland Southeast Asia. But compared with Vietnamese, they show significant evidence of gene flow from surrounding East Asians. The admixture proportion is estimated to be around 35-42% in different Jing groups using southern Han Chinese as a proxy. The majority of the paternal lineages of Jing people are most likely from surrounding East Asians. DISCUSSION: We conclude that the formation and language change of present-day Jing people have involved genetic assimilation of surrounding East Asian populations. The language borrowing, in this case, is not only a cultural phenomenon but has involved demic diffusion.
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Povo Asiático/genética , Fluxo Gênico/genética , Idioma , Antropologia Física , China/etnologia , Feminino , Genética Populacional , Humanos , Masculino , Análise de Componente Principal , Vietnã/etnologiaRESUMO
Osteoporosis is a complex multifactorial disorder of gradual bone loss and increased fracture risk. While previous studies have shown the importance of many genetic factors in determining peak bone mass and fragility fractures and in suggesting involvement of fibroblast growth factor-2 (FGF-2) in bone metabolism and bone mass, the relationship of FGF-2 genetic diversity with bone mass/osteoporosis has not yet been revealed. The current study investigated the potential relevance of FGF-2 gene polymorphism in osteoporosis among a Zhuang ethnic Chinese cohort of 623, including 237 normal bone mass controls, 227 osteopenia, and 159 osteoporosis of different ages. Bone density was examined by calcaneus ultrasound attenuation measurement, and single nucleotide polymorphisms (SNPs) and linkage disequilibrium analyses were performed on five SNP loci of FGF-2 gene. Significant differences were found in bone mass in males between the 45-year-old and ≥70-year-old groups (p < 0.01), and in females among 55, 60, 65 and 70-year-old groups (p < 0.05). Males had higher bone mass values than females in the same age (over 55-year-old) (p < 0.05). The proportions of individuals with normal bone mass decreased with age (65.2% to 40% in males, and 50% to 0% in females), whereas prevalence of osteoporosis increased with age (15.4% to 30% in men, and 7.7% to 82% in women). Out of five FGF-2 SNP loci, the TA genotype of rs308442 in the osteoporosis group (40.2%) was higher than in the control group (29.5%) (p < 0.05). The TA genotype was significantly correlated with the risk of osteoporosis (odds ratio OR = 1.653), 95% confidence interval (CI): 1.968-1.441). Strong linkage disequilibrium in FGF-2 gene was also detected between rs12644427 and rs3747676, between rs12644427 and rs3789138, and between rs3747676 and rs3789138 (D' > 0.8, and r² > 0.33). Thus, the rs308442 locus of FGF-2 gene is closely correlated to osteoporosis in this Zhuang ethnic Chinese cohort, and the TA may be the risk genotype of osteoporosis.
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Fator 2 de Crescimento de Fibroblastos/genética , Osteoporose/genética , Polimorfismo de Nucleotídeo Único , Fatores Etários , Idoso , Envelhecimento , Povo Asiático/genética , Densidade Óssea , Osso e Ossos/patologia , China/epidemiologia , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Osteoporose/epidemiologia , Osteoporose/patologiaRESUMO
Background: Immune microenvironment implicated in liver cancer development. Nevertheless, previous studies have not fully investigated the immune microenvironment in liver cancer. Methods: The open-access data used for analysis were obtained from The Cancer Genome Atlas (TCGA-LIHC) and the International Cancer Genome Consortium databases (ICGC-JP and ICGC-FR). R program was employed to analyze all the data statistically. Results: First, the TCGA-LIHC, ICGC-FR, and ICGC-JP cohorts were selected for our analysis, which were merged into a combined cohort. Then, we quantified 53 immune terms in this combined cohort with large populations using the ssGSEA algorithm. Next, a prognostic approach was established based on five immune principles (CORE.SERUM.RESPONSE.UP, angiogenesis, CD8.T.cells, Th2.cells, and B.cells) was established, which showed great prognostic prediction efficiency. Clinical correlation analysis demonstrated that high-risk patients could reveal higher progressive clinical features. Next, to examine the inherent biological variations in high- and low-risk patients, pathway enrichment tests were conducted. DNA repair, E2F targets, G2M checkpoints, HEDGEHOG signaling, mTORC1 signaling, and MYC target were positively correlated with the risk score. Examination of genomic instability revealed that high-risk patients may exhibit a higher tumor mutation burden score. Meanwhile, the risk score showed a strong positive correlation with the tumor stemness index. In addition, the Tumor Immune Dysfunction and Exclusion outcome indicated that high-risk patients could be higher responsive to immunotherapy, whereas low-risk patients may be higher responsive to Erlotinib. Finally, six characteristic genes DEPDC1, DEPDC1B, NGFR, CALCRL, PRR11, and TRIP13 were identified for risk group prediction. Conclusions: In summary, our study identified a signature as a useful tool to indicate prognosis and therapy options for liver cancer patients.
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Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Proteínas Hedgehog , Carcinoma Hepatocelular/genética , Carcinoma Hepatocelular/terapia , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/terapia , Prognóstico , Imunoterapia , Microambiente Tumoral/genética , ATPases Associadas a Diversas Atividades Celulares , Proteínas de Ciclo Celular , Proteínas de Neoplasias , Proteínas Ativadoras de GTPaseRESUMO
To explore the association between the single nucleotide polymorphism (SNP) of leptin receptor (LEPR) gene and the susceptibility to osteoporosis (OP) among Chinese Mulao people. A total of 738 people were involved. Bone mineral density (BMD) was examined by calcaneus ultrasound attenuation measurement. Six SNPs of LEPR were detected. The genotypes, allele frequencies, linkage disequilibrium, and haplotype were analyzed. BMD decreased with age and males had higher BMD than women. The proportion of normal bone mass decreased with age, and morbidity of OP increased. Three out of six SNPs showed a difference between OP and normal group. Individuals with AA genotype of rs1137100 in OP group outnumber the normal group, AA increased the risk of OP. In rs2767485, CT increased the risk of OP, C allele may be susceptible to OP. TT genotype of rs465555 was susceptible genotype of OP, T locus may be associated with OP. Strong linkage disequilibrium was detected among rs1137100, rs1137101, and rs4655555. Four haplotypes were constructed, among which, AACGCT and GGTGTA increased the risk of OP by 3.9 and 4.2 times, respectively, whereas, GGCGTA reduced 74% of OP susceptibility. The rs1137100, rs2767485, and rs465555 of LEPR were associated with OP in Chinese Mulao people.
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Povo Asiático , Osteoporose , Povo Asiático/genética , China/epidemiologia , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Osteoporose/diagnóstico por imagem , Osteoporose/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores para LeptinaRESUMO
BACKGROUND: Osteoporosis (OP) is a common orthopedic disease in the elderly, and Adiponectin (ADIPOQ) is closely related to bone metabolism. OBJECTIVE: To determine the relationship between five single nucleotide polymorphism (SNP) loci in the ADIPOQ gene and osteoporosis in middle-aged and elderly Mulam subjects in Hechi, Guangxi. METHODS: This case-control study included 297 middle-aged and elderly Mulam subjects with normal bone mass, 49 subjects with reduced bone mass, and 38 subjects with osteoporosis. Five loci (rs266729, rs1063539, rs2241766, rs3774261, rs710445) of the ADIPOQ in the Mulam subjects were genotyped using SNP with multiple-base extension. RESULTS: The bone strength index (SI) of middle-aged and elderly Mulam subjects showed an overall decreasing trend when the subjects were older. Age, muscle mass, and subcutaneous fat content were the main factors influencing the SI in Mulam subjects. The GC genotype of rs266729 and the GA and GG genotypes of rs710445 were significantly correlated with risk of bone loss (p < 0.05). rs2241766 and rs1063539 showed strong LD (D' > 0.8, r2 > 0.33). rs710445 and rs266729 loci and rs3774261 and rs2241766 loci showed complete LD (D' = 1). CONCLUSIONS: The GC genotype at rs266729 of the ADIPOQ gene, the GA and GG genotypes at rs710445, and the haplotypes CCGAA and GGTAG correlated with osteoporosis (p < 0.05). The allele C of rs1063539, rs266729 and rs710445 may afford protection for osteoporosis. The allele G may be the genetic susceptibility gene for osteoporosis, increasing the risk of osteoporosis.
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Etnicidade , Polimorfismo de Nucleotídeo Único , Adiponectina/genética , Idoso , Estudos de Casos e Controles , China/epidemiologia , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Pessoa de Meia-IdadeRESUMO
Accumulating evidence indicates that circular RNAs (circRNAs) can interact with microRNAs to modulate gene expression in various cancers, including hepatocellular carcinoma (HCC). Although the significant role of circRNAs has been well documented in HCC, the complex mechanisms of circRNAs still need to be elucidated. Our current study is aimed at investigating the function of circ_0001588 in HCC, which was observed to significantly increase in HCC tissues and cells. We demonstrated that the knockdown of circ_0001588 resulted in repressed cell proliferation, migration, and invasion. In vivo studies using a nude mouse model showed that circ_0001588 downregulation reduced tumor size. Moreover, miR-874 was predicted as a target of circ_0001588. Using luciferase binding assays, we proved that circ_0001588 functions as a molecular ceRNA of miR-874 and that CDK4 acts as a downstream target of miR-874 in HCC. It was confirmed that overexpression of miR-874 decreased the proliferation, migration, and invasion triggered by the increase in circ_0001588. In summary, our results indicate that circ_0001588 acts as a ceRNA and promotes HCC progression by targeting the miR-874/CDK4 signaling pathway. Hence, we propose that circ_0001588 may be a promising target for HCC treatment.
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Carcinoma Hepatocelular/genética , Quinase 4 Dependente de Ciclina/genética , Neoplasias Hepáticas/genética , MicroRNAs/metabolismo , RNA Circular/metabolismo , Animais , Carcinoma Hepatocelular/patologia , Linhagem Celular Tumoral , Movimento Celular/genética , Proliferação de Células/genética , Progressão da Doença , Feminino , Regulação Neoplásica da Expressão Gênica , Técnicas de Silenciamento de Genes , Humanos , Neoplasias Hepáticas/patologia , Camundongos , RNA Circular/genética , Ensaios Antitumorais Modelo de XenoenxertoRESUMO
In this study, we investigated the mechanistic role and prognostic significance of IGSF10 in lung adenocarcinoma. Oncomine database analysis showed that IGSF10 expression was significantly reduced in most cancer types, including lung adenocarcinoma (LUAD). In the TCGA-LUAD dataset, IGSF10 expression correlated positively with proportions of tumor-infiltrated B cells, CD4+ T cells, CD8+ T cells, neutrophils, macrophages, and dendritic cells. Kaplan-Meier survival analysis showed that overall survival of patients with low IGSF10 expression was significantly shorter than those with high IGSF10 expression. MiRWalk2.0 database analysis and dual luciferase reporter assays confirmed that miR-106b-5p suppressed IGSF10 expression by binding to its 3'UTR. MiR-106b-5p levels inversely correlated with IGSF10 expression in the TCGA-LUAD dataset. Moreover, inhibition of miR-106b-5p significantly decreased in vitro proliferation, migration, and invasion by LUAD cells, whereas miR-106b-5p overexpression reversed those effects. These results demonstrate that IGSF10 is an independent prognostic factor for LUAD. Furthermore, miR-106b-5p suppressed IGSF10 expression in LUAD tissues by binding to its 3'UTR, which makes IGSF10 and miR-106b-5p potential prognostic biomarkers and therapeutic targets in LUAD patients.
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Adenocarcinoma de Pulmão/genética , Regulação para Baixo , Regulação Neoplásica da Expressão Gênica , Imunoglobulinas/genética , Neoplasias Pulmonares/genética , MicroRNAs/genética , Adenocarcinoma de Pulmão/metabolismo , Linhagem Celular Tumoral , Proliferação de Células , Bases de Dados Factuais , Conjuntos de Dados como Assunto , Feminino , Humanos , Imunoglobulinas/metabolismo , Leucócitos/metabolismo , Neoplasias Pulmonares/metabolismo , Masculino , MicroRNAs/metabolismo , Invasividade Neoplásica , Prognóstico , Análise de SobrevidaRESUMO
Sui people, which belong to the Tai-Kadai-speaking family, remain poorly characterized due to a lack of genome-wide data. To infer the fine-scale population genetic structure and putative genetic sources of the Sui people, we genotyped 498,655 genome-wide single-nucleotide polymorphisms (SNPs) using SNP arrays in 68 Sui individuals from seven indigenous populations in Guizhou province and Guangxi Zhuang Autonomous Region in Southwest China and co-analyzed with available East Asians via a series of population genetic methods including principal component analysis (PCA), ADMIXTURE, pairwise Fst genetic distance, f-statistics, qpWave, and qpAdm. Our results revealed that Guangxi and Guizhou Sui people showed a strong genetic affinity with populations from southern China and Southeast Asia, especially Tai-Kadai- and Hmong-Mien-speaking populations as well as ancient Iron Age Taiwan Hanben, Gongguan individuals supporting the hypothesis that Sui people came from southern China originally. The indigenous Tai-Kadai-related ancestry (represented by Li), Northern East Asian-related ancestry, and Hmong-Mien-related lineage contributed to the formation processes of the Sui people. We identified the genetic substructure within Sui groups: Guizhou Sui people were relatively homogeneous and possessed similar genetic profiles with neighboring Tai-Kadai-related populations, such as Maonan. While Sui people in Yizhou and Huanjiang of Guangxi might receive unique, additional gene flow from Hmong-Mien-speaking populations and Northern East Asians, respectively, after the divergence within other Sui populations. Sui people could be modeled as the admixture of ancient Yellow River Basin farmer-related ancestry (36.2-54.7%) and ancient coastal Southeast Asian-related ancestry (45.3-63.8%). We also identified the potential positive selection signals related to the disease susceptibility in Sui people via integrated haplotype score (iHS) and number of segregating sites by length (nSL) scores. These genomic findings provided new insights into the demographic history of Tai-Kadai-speaking Sui people and their interaction with neighboring populations in Southern China.
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Cervical adenocarcinoma (CA) is a type of cervical cancer, and in previous decades its incidence has steadily increased. The upregulation of regucalcin (RGN) in various tumor cell types inhibits the progression of cancer. To understand the role of RGN in CA, RGN expression in human cervical cancer compared with normal tissues was analyzed using The Cancer Genome Atlas database (TCGA). Subsequently, transfection of lentivirus-mediated RGN into HeLa cells was conducted to study its function in tumor proliferation and metastasis. The expression of RGN and proteins associated with the Wnt/ß-catenin signaling pathway and epithelial-mesenchymal transition (EMT) were determined using reverse transcription-quantitative polymerase chain reaction and western blotting. Cell migration and invasion were evaluated using Transwell assays. Furthermore, cell proliferation, colony formation and cell cycle were assessed using the Cell Counting Kit-8, colony formation assay and flow cytometry, respectively. Lentivirus-mediated RGN effectively upregulated RGN expression, inhibited cell proliferation, retarded cellular invasion and promoted cell cycle arrest at the G2/M phase in HeLa cells. In addition, the expression levels of ß-catenin, p-glycogen synthase kinase (GSK)-3ß, matrix metalloproteinase (MMP)-3, MMP-7 and MMP-9 were effectively decreased, whilst those of E-cadherin and GSK-3ß were increased. The results suggest that RGN may be an inhibitory factor in tumorigenesis, and its mechanism of inhibiting tumor proliferation and metastasis may be associated with Wnt/ß-catenin signaling and EMT.
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An exopolysaccharide (EPS) was produced by Weissella cibaria YB-1 isolated from pickle Chinese cabbage. The EPS was purified and characterized. The monosaccharide composition of the EPS was glucose, and its molecular mass was 3.89â¯×â¯106â¯Da, as determined by gas chromatography (GC) and high performance liquid chromatography (HPLC). The structural characterization of purified EPS determined by Fourier transform infrared (FT-IR) spectra and nuclear magnetic resonance (NMR) spectra demonstrated that W. cibaria YB-1 synthesized a linear dextran that predominately had α-(1â¯ââ¯6) glycosidic linkages with only a few α-(1â¯ââ¯3) (4.3%) linked branches. The water solubility index (WSI), water holding capacity (WHC) and emulsifying activity (EA) of YB-1 dextran were 95.23⯱â¯4.45, 287.84⯱â¯16.23 and 84.43⯱â¯3.65%, respectively. The in-vitro antioxidant activities of the dextran showed good scavenging effects on superoxide anion radical and hydroxyl radical.
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Brassica/microbiologia , Polissacarídeos/isolamento & purificação , Weissella/química , Dextranos/química , Fermentação , Peso Molecular , Polissacarídeos/química , Espectroscopia de Infravermelho com Transformada de Fourier , Weissella/patogenicidadeRESUMO
Camellia nitidissima, a rare plant but a useful genetic resource for commercial cultivation of ornamental camellias, is distributed in a narrow region of South China and North Vietnam. In this study, RAPD and AFLP markers were used to assess the genetic diversity and population structure of six natural populations of C. nitidissima from Guangxi in South China. Twenty RAPD primers amplified 183 bands, of which 143 bands were polymorphic, and 8 AFLP primer pairs produced 502 bands, of which 364 were polymorphic. Independent as well as combined analyses of the cluster analyses of the RAPD and AFLP fragments showed that the six populations could be classified into two major genetic groups corresponding to the Nanning and Fangcheng areas. The Mantel test revealed significant correlation between the genetic and geographic distances of C. nitidissima populations (r = 0.953, p = 0.036). AMOVA analysis allowed the partitioning of the genetic variation between groups (36.09%), among populations within groups (25.78%), and within populations (38.14%). An understanding of both the genetic diversity and the population structure of C. nitidissima in China can also provide insight into the conservation and management of this endangered species.