Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 45
Filter
1.
J Agric Food Chem ; 2024 Jun 04.
Article in English | MEDLINE | ID: mdl-38835142

ABSTRACT

The escalating global consumption of tetracyclines (TCs) as broad-spectrum antibiotics necessitates innovative approaches to mitigate their pervasive environmental persistence and associated risks. While initiatives such as China's antimicrobial reduction efforts highlight the urgency of responsible TC usage, the need for efficient degradation methods remains paramount. Microbial degradation emerges as a promising solution, offering novel insights into degradation pathways and mechanisms. Despite challenges, including the optimization of microbial activity conditions and the risk of antibiotic resistance development, microbial degradation showcases significant innovation in its cost-effectiveness, environmental friendliness, and simplicity of implementation compared to traditional degradation methods. While the published reviews have summarized some aspects of biodegradation of TCs, a systematic and comprehensive summary of all the TC biodegradation pathways, reactions, intermediates, and final products including ring-opening products involved with enzymes and mechanisms of each bacterium and fungus reported is necessary. This review aims to fill the current gap in the literature by offering a thorough and systematic overview of the structure, bioactivity mechanism, detection methods, microbial degradation pathways, and molecular mechanisms of all tetracycline antibiotics in various microorganisms. It comprehensively collects and analyzes data on the microbial degradation pathways, including bacteria and fungi, intermediate and final products, ring-opening products, product toxicity, and the degradation mechanisms for all tetracyclines. Additionally, it points out future directions for the discovery of degradation-related genes/enzymes and microbial resources that can effectively degrade tetracyclines. This review is expected to contribute to advancing knowledge in this field and promoting the development of sustainable remediation strategies for contaminated environments.

2.
Funct Integr Genomics ; 24(3): 104, 2024 May 20.
Article in English | MEDLINE | ID: mdl-38764005

ABSTRACT

Accurate estimation of population allele frequency (AF) is crucial for gene discovery and genetic diagnostics. However, determining AF for frameshift-inducing small insertions and deletions (indels) faces challenges due to discrepancies in mapping and variant calling methods. Here, we propose an innovative approach to assess indel AF. We developed CRAFTS-indels (Calculating Regional Allele Frequency Targeting Small indels), an algorithm that combines AF of distinct indels within a given region and provides "regional AF" (rAF). We tested and validated CRAFTS-indels using three independent datasets: gnomAD v2 (n=125,748 samples), an internal dataset (IGM; n=39,367), and the UK BioBank (UKBB; n=469,835). By comparing rAF against standard AF, we identified rare indels with rAF exceeding standard AF (sAF≤10-4 and rAF>10-4) as "rAF-hi" indels. Notably, a high percentage of rare indels were "rAF-hi", with a higher proportion in gnomAD v2 (11-20%) and IGM (11-22%) compared to the UKBB (5-9% depending on the CRAFTS-indels' parameters). Analysis of the overlap of regions based on their rAF with low complexity regions and with ClinVar classification supported the pertinence of rAF. Using the internal dataset, we illustrated the utility of CRAFTS-indel in the analysis of de novo variants and the potential negative impact of rAF-hi indels in gene discovery. In summary, annotation of indels with cohort specific rAF can be used to handle some of the limitations of current annotation pipelines and facilitate detection of novel gene disease associations. CRAFTS-indels offers a user-friendly approach to providing rAF annotation. It can be integrated into public databases such as gnomAD, UKBB and used by ClinVar to revise indel classifications.


Subject(s)
Gene Frequency , INDEL Mutation , Humans , Algorithms
3.
Methods ; 222: 28-40, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38159688

ABSTRACT

Due to the abnormal secretion of adreno-cortico-tropic-hormone (ACTH) by tumors, Cushing's disease leads to hypercortisonemia, a precursor to a series of metabolic disorders and serious complications. Cushing's disease has high recurrence rate, short recurrence time and undiscovered recurrence reason after surgical resection. Qualitative or quantitative automatic image analysis of histology images can potentially in providing insights into Cushing's disease, but still no software has been available to the best of our knowledge. In this study, we propose a quantitative image analysis-based pipeline CRCS, which aims to explore the relationship between the expression level of ACTH in normal cell tissues adjacent to tumor cells and the postoperative prognosis of patients. CRCS mainly consists of image-level clustering, cluster-level multi-modal image registration, patch-level image classification and pixel-level image segmentation on the whole slide imaging (WSI). On both image registration and classification tasks, our method CRCS achieves state-of-the-art performance compared to recently published methods on our collected benchmark dataset. In addition, CRCS achieves an accuracy of 0.83 for postoperative prognosis of 12 cases. CRCS demonstrates great potential for instrumenting automatic diagnosis and treatment for Cushing's disease.


Subject(s)
Pituitary ACTH Hypersecretion , Humans , Pituitary ACTH Hypersecretion/diagnostic imaging , Prognosis , Adrenocorticotropic Hormone
4.
Front Public Health ; 11: 1159902, 2023.
Article in English | MEDLINE | ID: mdl-37614448

ABSTRACT

Introduction: Mindfulness reflects attention to the present moment in a non-judgmental way and has been linked to individual autonomy and motivation, but conclusions are inconsistent. The purpose of this review was to summarize previous studies to explore the relationship between mindfulness and motivation and its intervention effects. Methods: Literature searches were conducted in five electronic databases. Both correlational studies assessing the association between motivation and mindfulness and experimental studies to verify the effect of intervention were included. Results: Six papers with seven intervention studies and twenty-three papers with twenty-seven correlational studies met the inclusion criteria. Meta-analysis showed that mindfulness was positively correlated with intrinsic motivation (r = 0.28, p < 0.0001) and total motivation (r = 0.37, p < 0.0001) but had no significant correlation with extrinsic motivation (r = 0.01, p = 0.93) or amotivation (r = -0.17, p = 0.14). Effect-size estimates suggested that mindfulness intervention was beneficial to motivation promotion, but the effect was at a low level (g = 0.12). Conclusion: We found consistent support for mindfulness practice relating to motivation promotion, especially on intrinsic motivation development. However, there was still a portion of heterogeneity that could not be explained and needed to be identified in future studies.


Subject(s)
Mindfulness , Motivation , Databases, Factual
6.
Per Med ; 19(5): 403-410, 2022 09.
Article in English | MEDLINE | ID: mdl-35801384

ABSTRACT

Aim: Our study aimed to screen the genotype frequencies of very important pharmacogenomic (VIP) mutations and identify their differences between Bai and other populations. Materials & methods: We selected 66 VIP variants from PharmGKB (www.pharmgkb.org/) for genotyping. χ2 test was used to identify differences in loci between these populations and FST values of Bai and the other 26 populations were analyzed. Results: Our study showed that the frequencies of SNPs of CYP3A5, ACE, PTGS2 and NAT2 differed significantly from those of the other 26 populations. At the same time, we found that some VIP variants may affect the metabolism of drugs and the genetic relationship between the Bai population and East Asian populations was found to be the closest. Conclusion: By comparing the genotype frequencies of different populations, the loci with significant differences were identified and discussed, providing a theoretical basis for individualized drug use in the Bai ethnic population.


Subject(s)
Arylamine N-Acetyltransferase , Pharmacogenomic Variants , Angiotensin-Converting Enzyme 2/metabolism , Arylamine N-Acetyltransferase/genetics , China , Cyclooxygenase 2/genetics , Cytochrome P-450 CYP3A/genetics , Gene Frequency/genetics , Humans , Peptidyl-Dipeptidase A/metabolism , Pharmacogenetics
7.
Cardiovasc Toxicol ; 22(6): 515-527, 2022 06.
Article in English | MEDLINE | ID: mdl-35532855

ABSTRACT

As genetic inheritance is an inevitable risk factor in the development of coronary heart disease (CHD), it is critical to identify the polymorphisms of CHD risk. This study explored whether the NPAS4 polymorphisms are related to the CHD risk in the Chinese Han population. Five SNPs in NPAS4 were genotyped using Agena Mass ARRAY from 499 CHD and 500 controls. RT-PCR detected the NPAS4 expression levels in peripheral blood mononuclear cells from 50 CHD and 50 controls. χ2 test compared the distributions of gender, allele and genotypes frequencies between cases and controls. Logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (95% CIs). MDR analyzed the SNP-SNP interactions on risk of CHD. U test compared the differences in gene expression between different groups. The results showed that rs4466842 was correlated with an increased CHD risk in overall, males and age ≤ 60; rs117186164 and rs12785321 were significantly related to an increased CHD risk in male and age ≤ 60, respectively; haplotype Ars117186164Crs4466842 was significantly correlated with an increased CHD risk. SNP-SNP interactions results showed that the best model was the four-locus model was the combination of rs117770654, rs117957381, rs12785321, and rs4466842 (CVC = 10/10, Testing Sensitivity = 0.647). The expression levels of NPAS4 in the case group (0.365 ± 0.139) were significantly lower than that in the control group (0.782 ± 0.224) (P < 0.001). The results revealed that SNPs in NPAS4 may play an important role in the occurrence and development of CHD.


Subject(s)
Coronary Disease , Genetic Predisposition to Disease , Case-Control Studies , Coronary Disease/diagnosis , Coronary Disease/genetics , Humans , Leukocytes, Mononuclear , Male , Polymorphism, Single Nucleotide , Risk Factors
8.
Mol Genet Genomics ; 297(2): 407-417, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35146537

ABSTRACT

Previous studies have shown that the frequency of very important pharmacogenomic (VIP) genes varies in different populations which leads to the diversities in drug efficacy, safety, and the risk associated with adverse drug reactions (ADRs). The purpose of this study was to identify the distribution differences of VIP variants between the Li population and the other 13 populations. Based on the Pharmacogenomics Knowledgebase database (PhamGKB), we successfully genotyped 52 VIP variants within 27 genes in 200 unrelated Li population. χ2 test was used to evaluate the significant differences of genotype and allele frequencies between the Li and the other 13 populations from 1000 Genomes Project. Our study showed that the genotype frequencies of single nucleotide polymorphisms (SNPs) on KCNH2, ACE, CYP4F2, and CYP2E1 were considerably different between Li and the other 13 populations, especially in rs1805123 (KCNH2), rs4291 (ACE), rs3093105 (CYP4F2), and rs6413432 (CYP2E1) loci. Meanwhile, we found several VIP variants that might alter the drug metabolism of cisplatin-cyclophosphamide (CYP2E1), vitamin E (CYP4F2), asthma amlodipine, chlorthalidone, and lisinopril (ACE) through PharmGKB. We also identified other variants which were associated with adverse effects in isoniazid and rifampicin (CYP2E1; hepatotoxicity). The four loci rs1805123 (KCNH2), rs4291 (ACE), rs3093105 (CYP4F2), and rs6413432 (CYP2E1) provided a reliable basis for the prediction of the efficacy of certain drugs. The study complemented the existed pharmacogenomics information, which could provide theoretical basis for predicting the efficacy of certain drugs in the Li population.


Subject(s)
Pharmacogenetics , Pharmacogenomic Variants , Asian People/genetics , China , Ethnicity , Gene Frequency , Genotype , Humans , Polymorphism, Single Nucleotide
9.
JID Innov ; 1(3): 100028, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34909727

ABSTRACT

In the skin, Langerhans cells (LCs) require autocrine latent TGFß that is transactivated by the integrins ανß6 and ανß8 expressed by keratinocytes (KCs) for long-term epidermal retention. Selective expression of a ligand-independent, constitutively active form of TGFßR1 inhibits LC migration during homeostasis and in response to UVB exposure. In this study, we found that LC migration in response to inflammatory stimuli was also inhibited by ligand-independent TGFßR1 signaling. Contrary to UVB stimulation, which reduced KC expression of ανß6, in vitro and in vivo exposure to TNF-α or IL-1ß increased ανß6 transcript and protein expression by KCs. This resulted in increased KC-mediated transactivation of latent TGFß. Expression of ανß8 was largely unchanged. These findings show that ligand-independent TGFßR1 signaling in LCs can overcome inflammatory migration stimuli, but reduced KC-mediated transactivation of latent TGFß by KCs may only drive LC migration during homeostasis and in response to UV stimulation.

10.
Am J Transl Res ; 13(10): 11718-11727, 2021.
Article in English | MEDLINE | ID: mdl-34786099

ABSTRACT

BACKGROUND: IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Genetic factors are reported to play an essential role in IgAN progression. This study was designed to investigate the association between LOC105371267 and MRPS30-DT and IgAN risk among the Chinese Han population. METHODS: Six SNPs were genotyped. A logistic regression model was used to calculate the effects of the candidate SNPs on IgAN. The SNP-SNP interaction was analyzed using multifactor dimensionality reduction. RESULTS: We observed that only LOC105371267 had a relationship with IgAN. The results indicated an association between the genotype "CC" and a decreased IgAN risk (OR=0.44, P=0.014). The stratification analysis of the patients over 35 years old showed that rs3931698 contributes to IgAN susceptibility in the "GT" genotype (OR=1.78, P=0.038), while rs8044565 showed a significantly decreased risk-effect with IgAN ("T", OR=0.59, P=0.006; "CC", OR=0.15, P=0.015; "CC-CT", OR=0.59, P=0.023; Log-additive, OR=0.56, P=0.005). rs8044565 was correlated with a decreased susceptibility of IgAN in males ("CC", OR=0.27, P=0.006) and in patients with a Lee's grade ≥III ("CC", OR=0.46, P=0.046). We found rs8044565 is related to systolic blood pressure and urinary casts and rs3852740 has a relationship with the serum C3 and hemoglobin levels (P<0.05). CONCLUSION: The present study demonstrated that the SNPs in long non-coding RNAs might be related to IgAN.

11.
Am J Transl Res ; 13(9): 10871-10881, 2021.
Article in English | MEDLINE | ID: mdl-34650768

ABSTRACT

Genetic characteristics of CYP2J2 in different populations may be helpful to explore interethnic variability in drug response and disease susceptibility. There is no information about the genetic profile of CYP2J2 in the Chinese Uyghur population. We used PCR and first-generation sequencing technology to investigate CYP2J2 mutations in 100 unrelated healthy Chinese Uyghurs. The chi-square test was used to compare genotyping data of CYP2J2 in the Chinese Uyghur population with other ethnic groups. The SIFT and PolyPhen-2 online tools were used to predict the protein function of the novel nonsynonymous mutations in CYP2J2. CADD software was used to predict pathogenicity of the mutations. We found twenty-eight mutations in CYP2J2, five new mutations, three alleles (*1, *7 and *8), and three genotypes (*1/*1, *1/*7 and *1/*8) in the Chinese Uyghur population. The allele frequencies of CYP2J2 *1, *7 and *8 were 96%, 3.45%, and 0.5%, respectively. Interethnic comparison found that subgenotype *1 in Uyghur was significantly higher than in Taiwanese and African Americans, and *7 frequency in Uyghur was slightly lower than that in Taiwanese and African Americans (P<0.05); *8 was only found in Chinese Uyghur and Korean populations, with frequencies of 0.5% and 0.8%, respectively. Furthermore, the protein prediction results revealed that the five nonsynonymous mutations could influence protein structure and function. The observations of this study give rise to useful information on CYP2J2 mutations in Chinese Uyghurs, which may support future important clinical implications for the use of medications metabolized by CYP2J2.

12.
Biochem Genet ; 59(3): 697-713, 2021 Jun.
Article in English | MEDLINE | ID: mdl-33507447

ABSTRACT

The expression of IL-2RA and IL-2RB was correlated with breast cancer (BC) progression. However, there is no literature investigating the association of IL-2RA and IL-2RB polymorphisms with BC predisposition among Chinese Han Women. Seven SNPs in IL-2RA and IL-2RB were genotyped by Agena MassARRAY platform among 553 BC patients and 550 healthy controls. Odds ratios (OR) and 95% confidence interval (CI) adjusted for age were calculated for the effect of IL-2RA and IL-2RB variants on BC susceptibility. IL-2RA rs12722498 was a protective factor for BC occurrence (OR = 0.70, p = 0.019), especially in subjects with age ≤ 52 years (OR = 0.55, p = 0.004). IL-2RA rs12569923 (OR = 9.07, p = 0.033), IL-2RB rs2281089 (OR = 0.67, p = 0.043) and rs9607418 (OR = 0.59, p = 0.012) were related to the incidence of estrogen receptor positive (ER +) BC. IL-2RB rs3218264 (OR = 1.38, p = 0.010) and rs9607418 (OR = 0.56, p = 0.009) were associated with the risk of developing progesterone receptor positive (PR +) BC. Rs2281089 (OR = 1.54, p = 0.012) and rs1573673 (OR = 0.72, p = 0.035) were correlated to Ki-67 level. Moreover, IL-2RB rs2281089 (OR = 0.72, p = 0.022) showed a reduced risk of BC metastasis, and IL-2RA rs12722498 (OR = 0.54, p = 0.030) had a lower frequency in BC patients with tumor size > 2 cm. Our study identified the potential effect of genetic variations in IL-2RA and IL-2RB on BC susceptibility and/or BC clinicopathologic indicators among Chinese Han Women.


Subject(s)
Breast Neoplasms/genetics , Ethnicity/genetics , Genetic Predisposition to Disease , Interleukin-2 Receptor alpha Subunit/genetics , Interleukin-2 Receptor beta Subunit/genetics , Adult , Aged , Breast Neoplasms/ethnology , Case-Control Studies , China , Female , Humans , Middle Aged , Mutation
13.
Pharmacogenet Genomics ; 31(4): 89-95, 2021 06 01.
Article in English | MEDLINE | ID: mdl-33395025

ABSTRACT

BACKGROUND: Lung cancer is the leading cause of cancer-related mortality worldwide and CMTM8 is a potential tumor suppressor gene, which is down-regulated in lung cancer. The objective of this research was to assess the association of CMTM8 genetic polymorphisms with lung cancer risk. METHODS: To evaluate the correlation between CMTM8 polymorphisms and lung cancer risk, Agena MassArray platform was used for genotype determination among 509 lung cancer patients and 506 controls. Multiple genetic models, stratification analysis and Haploview analysis were used by calculating odds ratio (OR) and 95% confidence intervals (CIs). RESULTS: Significant associations were detected between CMTM8 rs6771238 and an increased lung cancer risk in codominant (adjusted OR = 1.57, 95% CI: 1.01-2.42, P = 0.044) and dominant (adjusted OR = 1.54, 95% CI: 1.01-2.36, P = 0.047) models. After sex stratification analysis, we observed that rs6771238 was related to an increased risk of lung squamous cell carcinoma, while rs6771238 was associated with an increased risk of lung adenocarcinoma. Rs9835916 was linked to increased risk of lymph node metastasis in lung cancer patients. CONCLUSION: Our study first reported that CMTM8 polymorphisms were a risk factor for lung cancer, which suggested the potential roles of CMTM8 in the development of lung cancer.


Subject(s)
Carcinoma, Non-Small-Cell Lung/genetics , Chemokines/genetics , Genetic Association Studies , Genetic Predisposition to Disease , MARVEL Domain-Containing Proteins/genetics , Adult , Aged , Alleles , Asian People/genetics , Carcinoma, Non-Small-Cell Lung/pathology , China , Female , Genotype , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide/genetics , Risk Factors
14.
Immunity ; 54(1): 84-98.e5, 2021 01 12.
Article in English | MEDLINE | ID: mdl-33212014

ABSTRACT

Following antigen-driven expansion in lymph node, transforming growth factor-ß (TGFß) is required for differentiation of skin-recruited CD8+ T cell effectors into epidermal resident memory T (Trm) cells and their epidermal persistence. We found that the source of TGFß -supporting Trm cells was autocrine. In addition, antigen-specific Trm cells that encountered cognate antigen in the skin, and bystander Trm cells that did not, both displayed long-term persistence in the epidermis under steady-state conditions. However, when the active-TGFß was limited or when new T cell clones were recruited into the epidermis, antigen-specific Trm cells were more efficiently retained than bystander Trm cells. Genetically enforced TGFßR signaling allowed bystander Trm cells to persist in the epidermis as efficiently as antigen-specific Trm cells in both contexts. Thus, competition between T cells for active TGFß represents an unappreciated selective pressure that promotes the accumulation and persistence of antigen-specific Trm cells in the epidermal niche.


Subject(s)
CD8-Positive T-Lymphocytes/immunology , Epidermis/immunology , Keratinocytes/immunology , T-Lymphocytes, Regulatory/immunology , Transforming Growth Factor beta/metabolism , Animals , Binding, Competitive , Bystander Effect , Cellular Microenvironment , Clone Cells , Immunologic Memory , Mice , Mice, Inbred C57BL , Organ Specificity , Receptors, Antigen, T-Cell, alpha-beta/metabolism , Signal Transduction , T-Cell Antigen Receptor Specificity
15.
J Gene Med ; 23(2): e3298, 2021 02.
Article in English | MEDLINE | ID: mdl-33232543

ABSTRACT

BACKGROUND: Recently, ADCY9 has been found to be highly expressed in colon cancer, and high ADCY9 expressionis a poor prognostic factor of colon cancer. However, no study has reported on the relationship between single nucleotide polymorphisms (SNPs) of ADCY9 and colorectal cancer risk in the Chinese Han population. METHODS: To evaluate the association between four ADCY9 SNPs and colorectal cancer risk, we performed a case-control study including 511 colorectal cancer patients and 511 healthy controls. SNPs were genotyped using the Agena MassARRAY platform (Agena Bioscience, San Diego, CA, USA). The distributions of alleles and genotypes frequencies between the case and control groups were compared using chi-squared. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression adjusted for age and gender to assess the association between SNPs and colorectal cancer risk. RESULTS: The overall analysis found that rs2230742 was associated with an increased risk of colorectal cancer (AA versus GG: OR = 3.54, 95% CI = 1.16-10.86, p = 0.027; recessive model: OR = 3.55, 95% CI = 1.16-10.85, p = 0.027). Stratification analysis showed that rs2230742 was associated with an increased rectal cancer risk; rs11076810 was associated with a reduced colorectal cancer risk for age > 59 years. No association was observed between other two SNPs and colorectal cancer risk. CONCLUSIONS: Our findings suggest that ADCY9 polymorphisms (rs2230742 and rs11076810) have an effect on colorectal cancer risk in the Chinese Han population. Future association and functional studies are required to confirm our findings and explore the mechanism of ADCY2 in colorectal cancer.


Subject(s)
Adenylyl Cyclases/genetics , Colorectal Neoplasms/genetics , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Aged , Alleles , Asian People/genetics , Case-Control Studies , China , Female , Gene Frequency , Genetic Association Studies , Genotype , Haplotypes , Humans , Linkage Disequilibrium , Logistic Models , Male , Middle Aged , Odds Ratio , Risk Assessment
16.
Pharmacogenomics J ; 21(1): 60-68, 2021 02.
Article in English | MEDLINE | ID: mdl-32699276

ABSTRACT

Drug gene polymorphisms are strongly associated with disease. Previous studies have shown that the frequency of drug genes varies in different populations. At present, there are no reports about the polymorphism of the drug genome in the Zhuang population in southern China. This study conducted a pharmacogenomics study on the Zhuang population in southern China. Therefore, we conducted genotyping on 105 Zhuang samples, and compared the genotyping results with those of other 11 ethnic groups after statistical analysis. Our results show that, compared with the 11 populations in the HapMap data set, the differences between the CYP2E1 rs2070676 and CYP2D6 rs1065852 of the Zhuang nationality are the largest. This study fills in the blank of the drug genome information of the Zhuang nationality in southern China. The two sites of Rs2070676 (CYP2E1) and rs1065852 (CYP2D6) provide a reliable basis for the prediction of the efficacy of certain drugs. Its main purpose is to provide theoretical basis for safe drug use in the Zhuang region of southern China.


Subject(s)
Cytochrome P-450 CYP2D6/genetics , Cytochrome P-450 CYP2E1/genetics , Pharmacogenetics , Pharmacogenomic Variants/genetics , Adult , Asian People/genetics , China/epidemiology , Ethnicity/genetics , Female , Gene Frequency , Genotype , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide/genetics
17.
J Gene Med ; 23(4): e3252, 2021 04.
Article in English | MEDLINE | ID: mdl-32656896

ABSTRACT

BACKGROUND: Lumbar disc herniation (LDH) places a serious burden on the daily lives and socioeconomics of people. Although the pathogenesis of LDH is complex, genetic factors such as single nucleotide polymorphisms (SNPs) may affect the risk of developing LDH. In the present study, we aimed to elucidate the effect of RAB40C SNPs on the risk of LDH in the Chinese Han population. METHODS: We investigated 508 LDH cases and 508 healthy controls for this case-control study. Three tag SNPs in RAB40C were selected and genotyped using the Agena MassARRAY platform (Agena Bioscience, San Diego, CA, USA). After adjusting for age and gender, odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression. RESULTS: In the allele model, we found rs62030917 and rs2269556 in RAB40C with a minor G allele significantly increased the risk of LDH (rs62030917: OR = 1.23, 95% CI = 1.00-1.50, p = 0.046; rs2269556: OR = 1.21, 95% CI = 1.02-1.45, p = 0.033). In genetic model analysis, rs2269556 was associated with an increased risk of LDH under both codominant (OR = 1.49, 95% CI = 1.03-2.15, p = 0.035) and log-additive models (OR = 1.21, 95% CI = 1.01-1.45, p = 0.035). rs62030917 of RAB40C was associated with an increased risk of LDH under codominant, recessive and log-additive models (p < 0.05) only among individuals younger than 49 years after stratification by age. CONCLUSIONS: For the first time, our results suggest that rs62030917 and rs2269556 in the RAB40C gene influence genetic susceptibility to LDH.


Subject(s)
Genetic Predisposition to Disease , Intervertebral Disc Degeneration/genetics , Intervertebral Disc Displacement/genetics , rab GTP-Binding Proteins/genetics , Adult , Aged , Alleles , Female , Gene Frequency , Genetic Association Studies , Genotype , Haplotypes/genetics , Humans , Intervertebral Disc Degeneration/pathology , Intervertebral Disc Displacement/pathology , Male , Middle Aged , Polymorphism, Single Nucleotide/genetics
18.
Biosensors (Basel) ; 10(12)2020 Nov 30.
Article in English | MEDLINE | ID: mdl-33266097

ABSTRACT

This review is focused on the basic properties, production, functionalization, cytotoxicity, and biomedical applications of liquid metal nanoparticles (LMNPs), with a focus on particles of the size ranging from tens to hundreds of nanometers. Applications, including cancer therapy, medical imaging, and pathogen treatment are discussed. LMNPs share similar properties to other metals, such as photothermal conversion ability and a propensity to form surface oxides. Compared to many other metals, especially mercury, the cytotoxicity of gallium is low and is considered by many reports to be safe when applied in vivo. Recent advances in exploring different grafting molecules are reported herein, as surface functionalization is essential to enhance photothermal therapeutic effects of LMNPs or to facilitate drug delivery. This review also outlines properties of LMNPs that can be exploited in making medical imaging contrast agents, ion channel regulators, and anti-pathogenic agents. Finally, a foresight is offered, exemplifying underexplored knowledge and highlighting the research challenges faced by LMNP science and technology in expanding into applications potentially yielding clinical advances.


Subject(s)
Biomedical Research , Drug Delivery Systems , Metal Nanoparticles/chemistry , Contrast Media , Gallium , Humans , Nanoparticles , Oxides
19.
Biosensors (Basel) ; 10(11)2020 Nov 03.
Article in English | MEDLINE | ID: mdl-33153122

ABSTRACT

Nanoparticles (NPs) and microparticles (MPs) have been widely used in different areas of research such as materials science, energy, and biotechnology. On-demand synthesis of NPs and MPs with desired chemical and physical properties is essential for different applications. However, most of the conventional methods for producing NPs/MPs require bulky and expensive equipment, which occupies large space and generally need complex operation with dedicated expertise and labour. These limitations hinder inexperienced researchers to harness the advantages of NPs and MPs in their fields of research. When problems individual researchers accumulate, the overall interdisciplinary innovations for unleashing a wider range of directions are undermined. In recent years, modular and integrated systems are developed for resolving the ongoing dilemma. In this review, we focus on the development of modular and integrated systems that assist the production of NPs and MPs. We categorise these systems into two major groups: systems for the synthesis of (1) NPs and (2) MPs; systems for producing NPs are further divided into two sections based on top-down and bottom-up approaches. The mechanisms of each synthesis method are explained, and the properties of produced NPs/MPs are compared. Finally, we discuss existing challenges and outline the potentials for the development of modular and integrated systems.


Subject(s)
Chemistry, Physical , Nanoparticles/chemistry
20.
Public Health Genomics ; 23(5-6): 200-209, 2020.
Article in English | MEDLINE | ID: mdl-33113544

ABSTRACT

BACKGROUND: Common malignant tumors of the urinary system include renal cell carcinoma, bladder carcinoma, and prostate cancer. The research on the CYP24A1 gene for prostate cancer is mainly concentrated in European and American populations, and there are few studies in the Chinese population. Therefore, we selected bladder cancer, prostate cancer, and renal cancer as the research objects to explore the influence of CYP24A1 on the genetic susceptibility of urinary system tumors. MATERIALS AND METHODS: rs6068816, rs2296241, rs2762934, and rs1570669 in 529 patients and 523 controls were genotyped via the Agena MassARRAY. Logistic regression analysis was used to evaluate the odd ratios (ORs) and 95% confidence intervals (CIs) of two SNPs with susceptibility of urinary system cancer. Database predicts the expression of the CYP24A1 gene in urinary system cancer. RESULTS: Individuals with the AG genotype of CYP24A1 rs1570669 has a 28% lower risk of developing urinary system tumors (OR = 0.72, 95% CI: 0.56-1.13, p = 0.016) and has a 31% lower risk of developing renal cancer (OR = 0.69, 95% CI: 0.51-0.92, p = 0.012). CONCLUSIONS: CYP24A1 rs1570669 may play an important role in the susceptibility of tumors of the urinary system and renal cancer.


Subject(s)
Genetic Predisposition to Disease , Kidney Neoplasms/genetics , Polymorphism, Single Nucleotide , Urologic Neoplasms/genetics , Vitamin D3 24-Hydroxylase/genetics , Aged , Asian People/genetics , Case-Control Studies , Female , Genetic Variation , Genotype , Humans , Logistic Models , Male , Middle Aged , Odds Ratio , Risk Factors
SELECTION OF CITATIONS
SEARCH DETAIL
...