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8 results on '"Huaichen Li"'

1. Association of mutations in Mycobacterium tuberculosis complex (MTBC) respiration chain genes with hyper-transmission

Author

Yameng Li, Yifan Li, Yao Liu, Xianglong Kong, Ningning Tao, Yawei Hou, Tingting Wang, Qilin Han, Yuzhen Zhang, Fei Long, and Huaichen Li

Subjects
Respiratory chain, Mycobacterium tuberculosis complex, Transmission, Whole genome sequencing, Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background The respiratory chain plays a key role in the growth of Mycobacterium tuberculosis complex (MTBC). However, the exact regulatory mechanisms of this system still need to be elucidated, and only a few studies have investigated the impact of genetic mutations within the respiratory chain on MTBC transmission. This study aims to explore the impact of respiratory chain gene mutations on the global spread of MTBC. Results A total of 13,402 isolates of MTBC were included in this study. The majority of the isolates (n = 6,382, 47.62%) belonged to lineage 4, followed by lineage 2 (n = 5,123, 38.23%). Our findings revealed significant associations between Single Nucleotide Polymorphisms (SNPs) of specific genes and transmission clusters. These SNPs include Rv0087 (hycE, G178T), Rv1307 (atpH, C650T), Rv2195 (qcrA, G181C), Rv2196 (qcrB, G1250T), Rv3145 (nuoA, C35T), Rv3149 (nuoE, G121C), Rv3150 (nuoF, G700A), Rv3151 (nuoG, A1810G), Rv3152 (nuoH, G493A), and Rv3157 (nuoM, A1243G). Furthermore, our results showed that the SNPs of atpH C73G, atpA G271C, qcrA G181C, nuoJ G115A, nuoM G772A, and nuoN G1084T were positively correlated with cross-country transmission clades and cross-regional transmission clades. Conclusions Our study uncovered an association between mutations in respiratory chain genes and the transmission of MTBC. This important finding provides new insights for future research and will help to further explore new mechanisms of MTBC pathogenicity. By uncovering this association, we gain a more complete understanding of the processes by which MTBC increases virulence and spread, providing potential targets and strategies for preventing and treating tuberculosis.

Published
2024
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2. Iron-related gene mutations driving global Mycobacterium tuberculosis transmission revealed by whole-genome sequencing

Author

Yameng Li, Yifan Li, Yao Liu, Xianglong Kong, Ningning Tao, Yawei Hou, Tingting Wang, Qilin Han, Yuzhen Zhang, Fei Long, and Huaichen Li

Subjects
Iron-related gene mutations, Mycobacterium tuberculosis, Transmission, Whole-genome sequencing, Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Iron plays a crucial role in the growth of Mycobacterium tuberculosis (M. tuberculosis). However, the precise regulatory mechanism governing this system requires further elucidation. Additionally, limited studies have examined the impact of gene mutations related to iron on the transmission of M. tuberculosis globally. This research aims to investigate the correlation between mutations in iron-related genes and the worldwide transmission of M. tuberculosis. Results A total of 13,532 isolates of M. tuberculosis were included in this study. Among them, 6,104 (45.11%) were identified as genomic clustered isolates, while 8,395 (62.04%) were classified as genomic clade isolates. Our results showed that a total of 12 single nucleotide polymorphisms (SNPs) showed a positive correlation with clustering, such as Rv1469 (ctpD, C758T), Rv3703c (etgB, G1122T), and Rv3743c (ctpJ, G676C). Additionally, seven SNPs, including Rv0104 (T167G, T478G), Rv0211 (pckA, A302C), Rv0283 (eccB3, C423T), Rv1436 (gap, G654T), ctpD C758T, and etgB C578A, demonstrated a positive correlation with transmission clades across different countries. Notably, our findings highlighted the positive association of Rv0104 T167G, pckA A302C, eccB3 C423T, ctpD C758T, and etgB C578A with transmission clades across diverse regions. Furthermore, our analysis identified 78 SNPs that exhibited significant associations with clade size. Conclusions Our study reveals the link between iron-related gene SNPs and M. tuberculosis transmission, offering insights into crucial factors influencing the pathogenicity of the disease. This research holds promise for targeted strategies in prevention and treatment, advancing research and interventions in this field.

Published
2024
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3. Association between two-component systems gene mutation and Mycobacterium tuberculosis transmission revealed by whole genome sequencing

Author

Yameng Li, Xianglong Kong, Yifan Li, Ningning Tao, Yawei Hou, Tingting Wang, Yingying Li, Qilin Han, Yao Liu, and Huaichen Li

Subjects
Two-component systems, Mycobacterium tuberculosis, Transmission, Whole genome sequencing, Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Two-component systems (TCSs) play a crucial role in the growth of Mycobacterium tuberculosis (M. tuberculosis). However, the precise regulatory mechanism of their contribution remain to be elucidated, and only a limited number of studies have investigated the impact of gene mutations within TCSs on the transmission of M. tuberculosis. Therefore, this study aims to explore the relationship between TCSs gene mutation and the global transmission of M. tuberculosis. Results A total of 13531 M.tuberculosis strains were enrolled in the study. Most of the M.tuberculosis strains belonged to lineage4 (n=6497,48.0%), followed by lineage2 (n=5136,38.0%). Our results showed that a total of 36 single nucleotide polymorphisms (SNPs) were positively correlated with clustering of lineage2, such as Rv0758 (phoR, C820G), Rv1747(T1102C), and Rv1057(C1168T). A total of 30 SNPs showed positive correlation with clustering of lineage4, such as phoR(C182A, C1184G, C662T, T758G), Rv3764c (tcrY, G1151T), and Rv1747 C20T. A total of 19 SNPs were positively correlated with cross-country transmission of lineage2, such as phoR A575C, Rv1028c (kdpD, G383T, G1246C), and Rv1057 G817T. A total of 41 SNPs were positively correlated with cross-country transmission of lineage4, such as phoR(T758G, T327G, C284G), kdpD(G1755A, G625C), Rv1057 C980T, and Rv1747 T373G. Conclusions Our study identified that SNPs in genes of two-component systems were related to the transmission of M. tuberculosis. This finding adds another layer of complexity to M. tuberculosis virulence and provides insight into future research that will help to elucidate a novel mechanism of M. tuberculosis pathogenicity.

Published
2023
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5. PDGF-induced airway smooth muscle proliferation is associated with Human antigen R activation and could be weakened by AMPK activation

Author

Huaichen Li, Qingrui Yang, Qiang Wan, Pengju Zhang, Zhimei Lv, Yi Liu, Xiaoyan Lin, and Mingfeng Cao

Subjects
medicine.medical_specialty, Myocytes, Smooth Muscle, Chromosomal translocation, Bronchi, AMP-Activated Protein Kinases, Flow cytometry, ELAV-Like Protein 1, AMP-activated protein kinase, Internal medicine, Genetics, medicine, Myocyte, Humans, Cyclin D1, Gene Silencing, Molecular Biology, Cell Proliferation, Cell Nucleus, Platelet-Derived Growth Factor, Messenger RNA, biology, medicine.diagnostic_test, AMPK, RNA-Binding Proteins, General Medicine, respiratory system, Cell cycle, Ribonucleotides, Aminoimidazole Carboxamide, Flow Cytometry, respiratory tract diseases, Cell biology, Enzyme Activation, Protein Transport, Endocrinology, ELAV Proteins, Antigens, Surface, biology.protein, Platelet-derived growth factor receptor
Abstract

CyclinD1 over-expression is the key pathogenetic event underlying airway smooth muscle (ASM) proliferation. Human antigen R (HuR) is a ubiquitously expressed RNA-binding protein, and is known to regulate the expression of multiple cell cycle regulators. The aim of the study is to investigate whether HuR might also be involved in ASM proliferation. In cultured ASM cells, PDGF treatment induced a significant elevation of HuR expression at both mRNA and protein levels. Immunofluorescence analysis demonstrated PDGF might promote HuR translocation from nucleus to cytoplasma as well. RNA-interference of HuR effectively decreased PDGF-induced cyclinD1 over-expression in ASM cells. Furthermore, AMPK activation by AICAR could effectively decrease PDGF-induced HuR cytoplasmatic translocation, cyclinD1 expression and ASM cells proliferation. In conclusion, altered expression and activity of HuR might participate in PDGF-induced ASM cells cyclinD1 expression and proliferation. The effectiveness of AMPK activation indicated a novel intervention method for airway remodeling.

Published
2011

6. A functional polymorphism in the TIM-1 gene is associated with asthma in a Chinese Han population

Author

Pin Wang, Linshan Shang, Huaichen Li, Chunhua Wei, Jisheng Li, Qiji Liu, and Yaoqin Gong

Subjects
Adult, Male, China, Adolescent, T cell, Immunology, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Genotype, medicine, Immunology and Allergy, Gene family, Humans, Point Mutation, Genetic Predisposition to Disease, Hepatitis A Virus Cellular Receptor 1, Promoter Regions, Genetic, Gene, Aged, Genetics, Membrane Glycoproteins, Mucin, Promoter, General Medicine, Middle Aged, Asthma, medicine.anatomical_structure, biology.protein, Receptors, Virus, Female, Antibody
Abstract

Background: TIM-1, a member of the T cell immunoglobulin and mucin domain (TIM) gene family was implicated as an asthma susceptibility gene in previous studies. TIM-1 is selectively expressed on activated CD4+ T cells and its expression is sustained preferentially on T helper type 2 (Th2) cells, which suggests that TIM-1 is associated with T cell differentiation and the development of Th2-biased immune response. Methods: In order to evaluate the effects of the promoter polymorphism in the TIM-1 gene on asthma susceptibility in a Chinese Han population, 2 promoter polymorphisms, –416G>C and –1454G>A, from 2 alternative promoter regions, were genotyped in 409 unrelated asthma patients and 305 healthy controls by using polymerase chain reaction and restriction fragment length polymorphism. Also, we analyzed the functional significance of –416G>C using the luciferase reporter gene assay. Results: We found that –416G>C was associated with asthma susceptibility in our study population (χ2 = 9.88, p = 0.002, odds ratio 1.41, 95% confidence interval 1.14–1.75). No statistically significant difference in the distribution of genotype and allele frequency of the –1454G>A site was observed. The –416G>C substitution increased the transcriptional activity of the TIM-1 gene. Conclusion: Our findings suggest that the –416G>C variation site in the human TIM-1 promoter region is associated with asthma susceptibility in a Chinese Han population.

Published
2006

7. Association study between vitamin D receptor gene polymorphisms and asthma in the chinese han population: a case-control study

Author

Ahlem Saadi, Chunhua Wei, Guimin Gao, Qiji Liu, Huaichen Li, and Yaoqin Gong

Subjects
Adult, Male, lcsh:Internal medicine, Linkage disequilibrium, China, lcsh:QH426-470, Adolescent, Genotype, Genome-wide association study, Biology, Calcitriol receptor, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Young Adult, Asian People, Gene Frequency, Vitamin D and neurology, Genetics, Humans, Genetic Predisposition to Disease, Genetics(clinical), Allele, lcsh:RC31-1245, Child, Allele frequency, Genetics (clinical), Aged, Haplotype, Case-control study, Middle Aged, Asthma, lcsh:Genetics, Haplotypes, Case-Control Studies, Child, Preschool, Receptors, Calcitriol, Female, lipids (amino acids, peptides, and proteins), Polymorphism, Restriction Fragment Length, Genome-Wide Association Study, Research Article
Abstract

Background Modulation of the immune system is one of the principal roles of Vitamin D, for which the effects are exerted via the vitamin D receptor (VDR). Importantly, variants in the VDR gene have been susceptible in the past to raise the risk of asthma in several populations. These effects of VDR allelic markers remain speculative in the Chinese Han population. Results A case-control study of 1090 individuals including 567 asthmatic patients was realized on five SNPs within the VDR gene. Only rs7975232 (ApaI) marker showed a significant association with asthma (P = 0.009). Haplotype analysis of the five VDR polymorphisms showed a significant association with asthma (global-p value = 0.012). Conclusion Although the susceptibility of VDR gene variants with asthma could not be confirmed for all SNPs tested in this study, the significant association obtained for rs7975232 provides evidence for a previously unknown report about the Chinese Han population and may raise the susceptibility of VDR to be a candidate gene for asthma.

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8. A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population

Author

Qiji Liu, Huaichen Li, Jisheng Li, Pin Wang, Chunhua Wei, Wenjing Zhang, Yaoqin Gong, and Yu Xia

Subjects
Adult, Male, China, lcsh:Internal medicine, Adolescent, Genotype, lcsh:QH426-470, Proteinase Inhibitory Proteins, Secretory, Single-nucleotide polymorphism, Electrophoretic Mobility Shift Assay, Biology, Immunoglobulin E, GATA Transcription Factors, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Atopy, Young Adult, Gene Frequency, medicine, Genetics, Humans, Genetic Predisposition to Disease, Genetics(clinical), Allele, Promoter Regions, Genetic, lcsh:RC31-1245, Allele frequency, Genetics (clinical), Asthma, Aged, Atopic dermatitis, Middle Aged, medicine.disease, lcsh:Genetics, Haplotypes, Case-Control Studies, Immunology, Mutation, biology.protein, Serine Peptidase Inhibitor Kazal-Type 5, Female, Polymorphism, Restriction Fragment Length, Research Article
Abstract

Background Mutation in SPINK5 causes Netherton syndrome, a rare recessive skin disease that is accompanied by severe atopic manifestations including atopic dermatitis, allergic rhinitis, asthma, high serum IgE and hypereosinophilia. Recently, single nucleotide polymorphism (SNP) of the SPINK5 was shown to be significantly associated with atopy, atopic dermatitis, asthma, and total serum IgE. In order to determine the role of the SPINK5 in the development of asthma, a case-control study including 669 asthma patients and 711 healthy controls in Han Chinese was conducted. Methods Using PCR-RFLP assay, we genotyped one promoter SNP, -206G>A, and four nonsynonymous SNPs, 1103A>G (Asn368Ser), 1156G>A (Asp386Asn), 1258G>A (Glu420Lys), and 2475G>T (Glu825Asp). Also, we analyzed the functional significance of -206G>A using the luciferase reporter assay and electrophoresis mobility shift assay. Results we found that the G allele at SNP -206G>A was associated with increased asthma susceptibility in our study population (p = 0.002, odds ratio 1.34, 95% confidence interval 1.11–1.60). There was no significant association between any of four nonsynonymous SNPs and asthma. The A allele at -206G>A has a significantly higher transcriptional activity than the G allele. Electrophoresis mobility shift assay also showed a significantly higher binding efficiency of nuclear protein to the A allele compared with the G allele. Conclusion Our findings indicate that the -206G>A polymorphism in the SPINK5 is associated with asthma susceptibility in a Chinese Han population.

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