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1.
Yi Chuan ; 46(1): 18-33, 2024 Jan 20.
Article in English | MEDLINE | ID: mdl-38230454

ABSTRACT

X chromosome inactivation can balance the effects of the two X chromosomes in females, and emerging evidence indicates that numerous genes on the inactivated X chromosome have the potential to evade inactivation. The mechanisms of escape include modification of DNA, RNA, histone, epitope, and various regulatory proteins, as well as the spatial structure of chromatin. The study of X chromosome inactivation escape has paved the way for investigating sex dimorphism in human diseases, particularly autoimmune diseases. It has been demonstrated that the presence of TLR7, CD40L, IRAK-1, CXCR3, and CXorf21 significantly contributes to the prevalence of SLE (systemic lupus erythematosus) in females. This article mainly reviews the molecular mechanisms underlying these genes that escape from X-chromosome inactivation and sexual dimorphism of systemic lupus erythematosus. Therefore, elucidating the molecular mechanisms underlying sexual dimorphism in SLE is not only crucial for diagnosing and treating the disease, but also holds theoretical significance in comprehensively understanding the development and regulatory mechanisms of the human immune system.


Subject(s)
Lupus Erythematosus, Systemic , X Chromosome Inactivation , Female , Humans , X Chromosome Inactivation/genetics , Sex Characteristics , Lupus Erythematosus, Systemic/genetics , Chromosomes, Human, X/genetics , Immune System
2.
J Inflamm Res ; 16: 3219-3231, 2023.
Article in English | MEDLINE | ID: mdl-37547125

ABSTRACT

Purpose: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can cause systemic damage to multiple organs. This study aims to analyze the value and function of IFI44 in the diagnosis and pathology of SLE by bioinformatics and immune infiltration analysis. Patients and Methods: GSE49454 and GSE65391 of SLE were obtained from the GEO dataset, and R software was employed to identify DEGs and investigate their functions. The PPI network was utilized to identify hub genes associated with SLE. CIBERSORT was used to assess differences in immune cell infiltration in SLE patients and controls. ROC curve analysis was performed to evaluate the diagnostic value of IFI44 in SLE. The expression of IFI44 in PBMCs was detected by RT-qPCR, and the correlation between IFI44 expression and SLE-related clinical indicators was analyzed. Results: A total of 65 DEGs were identified from the GSE49454 and GSE65391 databases. Through PPI analysis, IFI44 and RSAD2 were identified as significantly aberrantly expressed in SLE patients. SLE patients and controls showed a significant difference in the proportion of immune cell infiltration. IFI44 expression was positively correlated with activated DCs, monocytes, PCs, neutrophils, and activated memory CD4+T cells, while negatively correlated with M0 and CD8+T cells. The expression of IFI44 was significantly higher in SLE patients (P<0.01), especially in male patients (P=0.0376). ROC curve analysis demonstrated that IFI44 had a high diagnostic value for SLE. Correlation analysis indicated that IFI44 expression was correlated with levels of RBC, HGB, HCT, IgA, ESR, UPRO, C3, C4, and ENA in SLE patients. Conclusion: IFI44 may play a role in the pathogenesis of SLE by influencing the immune microenvironment of SLE patients, and thus has the potential to serve as a diagnostic marker and therapeutic target for SLE.

3.
Ann Hum Biol ; 50(1): 308-323, 2023 Feb.
Article in English | MEDLINE | ID: mdl-37417326

ABSTRACT

BACKGROUND: Digit ratio, especially 2D:4D, is hypothesised as a potential biological marker of exposure to intrauterine sex hormones. The aim of this study was to investigate the association between 10 SNPs of sex steroid hormone receptor (SSHR) related genes and 2D:4D. SUBJECTS AND METHODS: 814 college students were randomly selected as research participants. After taking pictures of both hands of the participants, Image Pro Plus (IPP) software was used to measure 2D:4D. ESR1 (rs2228480 and rs3798758), ESR2 (rs944459, rs8006145, rs928554, and rs8018687), GPER1 (rs10269151 and rs12702047), and PGR (rs1042839 and rs500760) were genotyped using multiplex PCR. RESULTS: Females had significantly higher 2D:4D in both hands than male students (p < 0.05), and the R2D:4D of the Han population was significantly higher than that of the Hui population (p < 0.05). The number of females carrying the GPER1 G allele of rs12702047 was significantly higher than that of males (p < 0.05). The L2D:4D in males was significantly different in rs1042839, and the R2D:4D in the Han ethnicity was significantly different in rs3798758. Logistic regression analysis showed that rs12702047 was significantly associated with 2D:4D in both hands (p < 0.05). CONCLUSIONS: GPER1 rs12702047 may be involved in the formation of digit ratio by affecting phalanx development in the Chinese population.


Subject(s)
Digit Ratios , Polymorphism, Single Nucleotide , Female , Humans , Male , Fingers/anatomy & histology , Gonadal Steroid Hormones , China , Steroids , Sex Characteristics
4.
Clin Exp Rheumatol ; 41(1): 48-59, 2023 01.
Article in English | MEDLINE | ID: mdl-35349411

ABSTRACT

OBJECTIVES: We screened the type I interferon signal pathway factor involved in the pathogenesis of systemic lupus erythematosus (SLE) by whole-genome sequencing in SLE patients and initially analyse their potential functions. METHODS: Use high-throughput sequencing technology to sequence mRNAs on peripheral blood mononuclear cells from SLE patients and healthy controls,and screen out differentially expressed genes related to the type I interferon (IFN) pathway. Quantitative reverse transcription PCR (RT-qPCR) was utilised to verify the expression of the IFI44L gene in SLE patients and healthy controls, and the correlation between its expression level and clinical test indicators of SLE patients were analysed. The receiver operating characteristic (ROC) analyses were conducted to explore the value of IFI44L for SLE diagnosis. Cell counting kit-8 assay and flow cytometry were used to detect the effects of IFI44L on cell proliferation, apoptosis, and cell cycle. RESULTS: A total of 122 genes were significantly up-regulated and 34 genes were significantly down-regulated in the SLE group compared with the healthy control group in this research. The significantly up-regulated IFI44L in SLE patients was verified by RT-qPCR (p<0.01), furthermore, male SLE patients were significantly higher than that in female SLE patients (p<0.05). Moreover, ROC analyses proved IFI44L may have diagnostic value for SLE. Meanwhile, IFI44L expression level was significantly correlated with platelets, mean platelet volume, red blood cell distribution width to platelet ratio, complement component 3, and C-reactive protein (p<0.05). In addition, under the action of high interferon, IFI44L can resist the proapoptotic effect of IFN-α and improve the proliferation activity of cells. CONCLUSIONS: IFI44L may play an important role in SLE pathology through abnormal regulation of the type I interferon signalling pathway.


Subject(s)
Interferon Type I , Lupus Erythematosus, Systemic , Female , Humans , Male , Biomarkers , Leukocytes, Mononuclear/metabolism , Lupus Erythematosus, Systemic/diagnosis , Signal Transduction
5.
Biomed Res Int ; 2022: 7375661, 2022.
Article in English | MEDLINE | ID: mdl-36203485

ABSTRACT

Purpose: Gastric cancer(GC)is one of the deadliest digestive tract tumors worldwide,existing studies suggest that dysregulated expression of microRNAs (miRNAs) plays an important role in the pathogenesis and progression of GC. This study aimed to investigate the expression, biological function, and downstream mechanism of miR-34c-5p in GC, provide new targets for gastric cancer diagnosis and treatment. Methods: The expression of miR-34c-5p in GC tissues and cell lines was examined by RT-qPCR. Cell wound healing, transwell and cell cloning assays were used to detect the effect of miR-34c-5p on the migration and invasion abilities, respectively, of GC cells. Western blot was performed to detect the expression of related proteins. Bioinformatics analysis was used to predict the binding of MAP2K1 to miR-34c-5p and the targeting relationship was confirmed by dual luciferase reporter assay. Results: The expression level of miR-34c-5p was significantly decreased in GC tissues and cell lines. miR-34c-5p overexpression inhibited migration, invasion, and colony formation of gastric cancer cells, the related protein E-cadherin expression was significantly increased and N-cadherin, vimentin, and PCNA expression were significantly decreased, while miR-34c-5p knockdown exerted the opposite effects. In addition, the targeting relationship between miR-34c-5p and MAP2K1 was predicted and confirmed, and further confirmed by rescue experiments that MAP2K1 alleviated the inhibitory effect of miR-34c-5p in GC. Conclusion: MiR-34c-5p is lowly expressed in GC, and it can target MAP2K1 to exert inhibitory effects on GC proliferation, invasion, and migration. These findings provide a promising biomarker and a potential therapeutic target for gastric cancer.


Subject(s)
MicroRNAs , Stomach Neoplasms , Cadherins/metabolism , Cell Line, Tumor , Cell Movement/genetics , Cell Proliferation/genetics , Gene Expression Regulation, Neoplastic , Humans , Luciferases/metabolism , MAP Kinase Kinase 1/metabolism , MAP Kinase Kinase 1/pharmacology , MAP Kinase Kinase 1/therapeutic use , MicroRNAs/metabolism , Neoplastic Processes , Proliferating Cell Nuclear Antigen/metabolism , Stomach Neoplasms/pathology , Vimentin/metabolism
6.
Zhonghua Nan Ke Xue ; 27(5): 387-393, 2021 May.
Article in Chinese | MEDLINE | ID: mdl-34914312

ABSTRACT

OBJECTIVE: To investigate the protective effect of Lycium barbarum polysaccharide (LBP) against testicular spermatogenic injury in mice with oxidative stress (OS) and its mechanism. METHODS: A unique OS model was made in 1.5-month-old mice with mitochondrial inner membrane-like peptide-2 mutation (Immp2l-/-), which were fed with water (the negative control group) or LBP in water at the concentration of 20 mg/kg (the LBP intervention group), and wild-type Immp2l+/+ mice used as normal controls and fed with water only. Then all the mice were sacrificed at 13 months old and the testis tissue harvested for observation of pathological changes by HE staining, measurement of routine semen parameters, and detection of the apoptosis of spermatogenic cells by TUNEL and the expression levels of glutathione peroxidase 4 (GPX4) and apoptosis-inducing factor (AIF) by immunohistochemistry and Western blot. RESULTS: Thinned testicular cortex was observed in the negative controls, with evident vacuolar degeneration and reduced numbers of germ cells and elongated spermatids in the lumen of the seminiferous tubules, but all these pathological changes were improved and the germ cells at different levels orderly arranged in the LBP intervention group. Compared with the normal controls, the mice in the negative control group showed dramatically reduced sperm count (ï¼»72.89 ± 8.28ï¼½ vs ï¼»20.78 ± 1.45ï¼½ ×106, P<0.01) and the percentages of progressively motile sperm (PMS) (ï¼»58.62 ± 6.15ï¼½% vs ï¼»18.37 ± 2.67ï¼½%, P<0.01) and morphologically normal sperm (MNS) (ï¼»65.81 ± 7.69ï¼½% vs ï¼»20.33 ± 3.17ï¼½%, P<0.01) and increased apoptosis of spermatogenic cells (ï¼»1.45 ± 0.43ï¼½% vs ï¼»7.14 ± 0.78ï¼½%, P<0.01). LBP intervention, however, significantly increased the sperm count (ï¼»45.25 ± 3.39ï¼½ ×106, P<0.05), PMS (ï¼»36.34 ± 4.56ï¼½%, P<0.05) and MNS (ï¼»38.72 ± 3.63ï¼½%, P<0.05) and decreased the apoptosis of spermatogenic cells (ï¼»2.28 ± 0.07ï¼½%, P<0.01). The mice in the LBP intervention group, in comparison with the negative controls, exhibited remarkably up-regulated expression of GPX4 (2.75 ± 0.48 vs 1.43 ± 0.17, P<0.05) and down-regulated expression of AIF (2.43 ± 0.15 vs 1.35 ± 0.51, P<0.05). CONCLUSIONS: Lycium barbarum polysaccharide at 20 mg/kg can reduce testicular spermatogenic injury in Immp2l-/- mice with oxidative stress through GPX4 and AIF pathways.


Subject(s)
Apoptosis Inducing Factor , Drugs, Chinese Herbal , Phospholipid Hydroperoxide Glutathione Peroxidase/metabolism , Testis/drug effects , Animals , Apoptosis , Apoptosis Inducing Factor/metabolism , Drugs, Chinese Herbal/pharmacology , Endopeptidases/genetics , Male , Mice , Mice, Knockout , Mitochondrial Proteins/genetics , Oxidative Stress
7.
J Immunol Res ; 2021: 9818203, 2021.
Article in English | MEDLINE | ID: mdl-34545332

ABSTRACT

[This corrects the article DOI: 10.1155/2021/5547635.].

8.
Medicine (Baltimore) ; 100(25): e26499, 2021 Jun 25.
Article in English | MEDLINE | ID: mdl-34160465

ABSTRACT

BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by multiple organ damage and the production of a variety of autoantibodies. The pathogenesis of SLE has not been fully defined, and it is difficult to treat. Our study aimed to identify candidate genes that may be used as biomarkers for the screening, diagnosis, and treatment of SLE. METHODS: We used the GEO2R tool to identify the differentially expressed genes (DEGs) in SLE-related datasets retrieved from the Gene Expression Omnibus (GEO). In addition, we also identified the biological functions of the DEGs by gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis. Additionally, we constructed protein-protein interaction (PPI) networks to identify hub genes, as well as the regulatory network of transcription factors related to DEGs. RESULTS: Two datasets were identified for use from the GEO (GSE50772, GSE4588), and 34 up-regulated genes and 4 down-regulated genes were identified by GEO2R. Pathway analysis of the DEGs revealed enrichment of the interferon alpha/beta signaling pathway; GO analysis was mainly enriched in response to interferon alpha, regulation of ribonuclease activity. PPIs were constructed through the STRING database and 14 hub genes were selected and 1 significant module (score = 12.923) was obtained from the PPI network. Additionally, 11 key transcription factors that interacted closely with the 14 hub DEGs were identified from the gene transcription factor network. CONCLUSIONS: Bioinformatic analysis is an effective tool for screening the original genomic data in the GEO database, and a large number of SLE-related DEGs were identified. The identified hub DEGs may be potential biomarkers of SLE.


Subject(s)
Gene Expression Regulation/immunology , Gene Regulatory Networks , Lupus Erythematosus, Systemic/genetics , Transcription Factors/metabolism , Biomarkers/analysis , Computational Biology , Datasets as Topic , Gene Expression Profiling , Humans , Lupus Erythematosus, Systemic/immunology , Oligonucleotide Array Sequence Analysis , Protein Interaction Mapping , Protein Interaction Maps/genetics , Signal Transduction/genetics , Signal Transduction/immunology
9.
J Immunol Res ; 2021: 5547635, 2021.
Article in English | MEDLINE | ID: mdl-34036107

ABSTRACT

OBJECTIVE: To investigate microRNA (miRNA) expression profiles in individuals with systemic lupus erythematosus (SLE) and identify the valuable miRNA biomarkers in diagnosing and monitoring SLE. METHODS: Next-generation sequencing (NGS) was performed to assess miRNA amounts in peripheral blood mononuclear cells (PBMCs) from four SLE cases and four healthy controls. Quantitative polymerase chain reaction (qPCR) was carried out for validating candidate miRNAs in 32 SLE cases and 32 healthy controls. In addition, receiver operating characteristic (ROC) curve analysis was completed to evaluate diagnostic performance. Finally, the associations of candidate miRNAs with various characteristics of SLE were analyzed. RESULTS: A total of 157 miRNAs were upregulated, and 110 miRNAs were downregulated in PBMCs from SLE cases in comparison to healthy controls, of which the increase of miR-183-5p and decrease of miR-374b-3p were validated by qPCR and both showed good diagnostic performance for SLE diagnosis. Besides, miR-183-5p expression levels displayed a positive association with SLE disease activity index (SLEDAI) and anti-dsDNA antibody amounts. CONCLUSION: Our data indicated that miR-183-5p is a promising biomarker of SLE.


Subject(s)
Leukocytes, Mononuclear/immunology , Lupus Erythematosus, Systemic/diagnosis , MicroRNAs/blood , Adult , Antibodies, Antinuclear/blood , Biomarkers/blood , Biomarkers/metabolism , Case-Control Studies , Female , Gene Expression Profiling , Healthy Volunteers , Humans , Leukocytes, Mononuclear/metabolism , Lupus Erythematosus, Systemic/blood , Lupus Erythematosus, Systemic/genetics , Lupus Erythematosus, Systemic/immunology , Male , MicroRNAs/metabolism , ROC Curve , Up-Regulation/immunology , Young Adult
10.
Med Sci Monit ; 27: e930591, 2021 Mar 16.
Article in English | MEDLINE | ID: mdl-33723203

ABSTRACT

BACKGROUND Cytochrome P450 (CYP) genes are necessary for the production or metabolism of fetal sex hormones during pregnancy. The second-to-fourth digit ratio (2D: 4D) is formed in the early stage of human fetal development and considered an indicator reflecting prenatal sex steroids levels. We explored the association between 2D: 4D and single-nucleotide polymorphisms (SNPs) of CYP. MATERIAL AND METHODS Correlation analysis between 2D: 4D and 8 SNPs, rs2687133 (CPY3A7), rs7173655 (CYP11A1), rs1004467, rs17115149, and rs2486758 (CYP17A1), and rs4646, rs2255192, rs4275794 (CYP19A1), was performed using data from 426 female and 412 male Chinese university students. SNP genotyping was conducted using PCR. Digit lengths were photographed and measured by image processing software. RESULTS rs2486758 (CYP17A1) correlated with left hand 2D: 4D in men (P=0.026), and rs1004467 (CYP17A1) correlated with right hand 2D: 4D in men (P=0.008) and the whole population (P=0.032). In men, allele G rs1004467 decreased right hand 2D: 4D, while allele C of rs2486758 increased left hand 2D: 4D. In women, left hand 2D: 4D was higher in genotypes with allele A of SNP rs4646 (CYP19A1) under the dominant genetic model; female DR-L was higher in genotypes with allele T of rs17115149 (CYP11A1). SNPs rs2687133 (CYP3A7) and rs1004467 (CYP17A1) were significantly correlated with right hand 2D: 4D (P=0.0107). CONCLUSIONS SNPs rs1004467 and rs2486758 of CYP17A1 are significant in the relationship between 2D: 4D and CYP gene polymorphisms under different conditions. SNP interactions between CYP genes probably impact 2D: 4D. The correlation between 2D: 4D and some sex hormone-related diseases may be due to the effect of CYP variants on the 2 phenotypes.


Subject(s)
Cytochrome P-450 Enzyme System , Fingers , Female , Humans , Male , Young Adult , Alleles , Aromatase/genetics , Asian People/genetics , Case-Control Studies , China , Cholesterol Side-Chain Cleavage Enzyme/genetics , Cytochrome P-450 CYP3A/genetics , Cytochrome P-450 Enzyme System/genetics , Fingers/anatomy & histology , Gene Frequency/genetics , Genetic Association Studies/methods , Genotype , Polymorphism, Single Nucleotide/genetics , Steroid 17-alpha-Hydroxylase/genetics , Students , Universities
11.
Andrologia ; 52(4): e13554, 2020 May.
Article in English | MEDLINE | ID: mdl-32141651

ABSTRACT

Studies have indicated that high levels of ethanol exposure impaired spermatogenesis in mice. However, the effects of chronic and low-dose alcohol consumption on susceptible populations remain unclear. The previous studies have confirmed that Immp2l mutant mice (Immp2lTg(Tyr)979Ove or Immp2l-/- ) suffered from increased levels of oxidative stress(OS) and male infertility, heterozygous lmmp2l mice (Immp2l+/- ) showed no altered ROS levels under physiological condition. Lycium barbarum polysaccharide (LBP) significantly scavenge oxygen free radicals and enhance antioxidant enzyme activity. The objectives of present study were to research the effects of chronic and low-dose alcohol-induced damage on Immp2l+/- , explore the protective function of LBP and possible mechanism. The results indicated that chronic ethanol exposure leads to spermatogenic impairment and triggered a toxic effect on germ cell, 10 mg/kg LBP administration improved the quality of spermatozoon, decreased the ratio of apoptotic germ cells and the expression of Col1a1 and Col1a2, while increased the level of TNP2 and RPL31. In conclusion, the study may provide basic knowledge about LBP's important role against ethanol-induced spermiotoxicity and testicular degeneration in Immp2l+/- mice, and the mechanism may be that LBP influenced the state of the spermatogenic epithelium by decreasing the expression of Collagen level leading to alterations in protein biosynthesis during the process of spermatogenesis.


Subject(s)
Central Nervous System Depressants/adverse effects , Drugs, Chinese Herbal/therapeutic use , Ethanol/adverse effects , Infertility, Male/prevention & control , Spermatogenesis/drug effects , Animals , Drug Evaluation, Preclinical , Drugs, Chinese Herbal/pharmacology , Infertility, Male/chemically induced , Male , Mice , Oxidative Stress/drug effects , Random Allocation , Spermatozoa/drug effects
12.
Exp Ther Med ; 19(1): 786-796, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31885714

ABSTRACT

The aim of the present meta-analysis was to evaluate the effects of the addition of single-dose gonadotropin-releasing hormone agonist (GnRHa) for luteal support on pregnancy outcomes in females partaking in in vitro fertilization or intracytoplasmic sperm injection cycles. In total, the studies were hand-searched from six electronic databases to compare the pregnancy outcomes between single-dose GnRHa administered as luteal phase support (GnRHa group) and regular luteal support (control group). In the GnRHa group, single-dose GnRH agonist were administered at 5/6 days after IVF/ICSI procedures. In the control group, single-dose GnRH agonist was not added during luteal phase support. Only randomized controlled trials were included. Sensitivity analysis was performed using Revman 5.3 software; the high heterogeneity identified in the present analysis was primarily caused by one study included. Following exclusion of this particular study, the meta-analysis results indicated significantly higher rates of ongoing pregnancy or live birth per transfer (P=0.002), clinical pregnancy per transfer (CPR; P=0.001) and multiple pregnancy per pregnancy (P=0.020) in the GnRHa group compared with those in the control group. Meta-analysis of a subgroup of trials with long-acting GnRH-a ovarian treatment protocols indicated that the rate of ongoing pregnancy or live birth (P=0.080), CPR (P=0.090) and multiple pregnancy per pregnancy (P=0.140) were not significantly different between the two groups. However, the results from trials that had used a multi-dose GnRH antagonist ovarian treatment protocol indicated a significantly higher ongoing pregnancy or live birth rate per transfer (P=0.010), CPR per transfer (P<0.0001) and multiple pregnancy rate per pregnancy (P=0.003) compared with those in the control group. The present results suggested that administration of single-dose GnRH agonist in the luteal phase may be an ideal choice for patients undergoing IVF/ICSI therapy.

13.
Hum Hered ; 84(3): 144-150, 2019.
Article in English | MEDLINE | ID: mdl-31805572

ABSTRACT

BACKGROUND: Male infertility is a major health issue worldwide. Y chromosome microdeletions are well-characterized genetic causes of male infertility. The association of partial AZFc deletions (gr/gr, b2/b3, and b1/b3) with male infertility is not well confirmed in diverse populations. The purpose of the present study was to investigate the frequency of partial AZFc deletions and their association with male infertility in a population from Northwestern China. METHODS: Multiplex polymerase chain reaction was used to detect partial AZFc deletions in 228 infertile patients. We analyzed 141 cases of azoospermia (AS), 87 cases of oligozoospermia (OS), and 200 fertile controls. RESULTS: Our data showed that the frequency of a b2/b3 deletion in infertile men, men with AS, men with OS, and controls was 3.51, 2.13, 5.75, and 0.00%, respectively. The frequency of this deletion was significantly different between the infertile group and the control group (3.51 vs. 0.00%, respectively, p = 0.021) and between the OS group and the control group (5.75 vs. 0.00%, respectively, p = 0.003). The frequency of a gr/gr deletion in each group was 11.84, 9.22, 16.09, and 7.50%, respectively. The frequency of a gr/gr deletion was significantly different between the OS group and the control group (16.09 vs. 7.50%, respectively, p = 0.026) but not between the infertile group and the control group (11.84 vs. 7.50%, p = 0.132) or the AS group and the control group (9.22 vs. 7.50%, p = 0.569). The frequency of a b1/b3 deletion was 0.44, 0.71, 0.00, and 3.00%, respectively. For this deletion, there was no significant difference between the infertile (0.44 vs. 3.00%, p = 0.089), AS (0.71 vs. 3.00%, p = 0.276), and OS groups (0.00 vs. 3.00%, p = 0.236) and the control group. CONCLUSIONS: Our results suggest that the b2/b3 deletion might be associated with male infertility and that the gr/gr deletion might be associated with spermatogenic failure in men with OS in Northwestern China (Ningxia).


Subject(s)
Chromosome Deletion , Infertility, Male/genetics , Sex Chromosome Aberrations , Sex Chromosome Disorders of Sex Development , Adult , Azoospermia , China , Chromosomes, Human, Y , Gene Frequency , Genetic Association Studies , Humans , Male , Middle Aged , Spermatogenesis/genetics , Young Adult
14.
PLoS One ; 14(8): e0221104, 2019.
Article in English | MEDLINE | ID: mdl-31425535

ABSTRACT

Long noncoding RNAs (lncRNAs) are a class of functional non-coding transcripts that are longer than 200 nt and regulate gene expression via diverse mechanisms in eukaryotes. In fact, they have emerged as critical epigenetic and transcriptional regulators of autophagy in mammals in response to various stressors. Autophagy not only plays a crucial role in maintaining cellular homeostasis, but it is also essential to immunity, targets intracellular pathogens for degradation, modulates inflammation, and participates in adaptive immune responses. However, the expression profile of lncRNA and its role in regulating autophagy in macrophages have been poorly defined. Here, we used transcriptomic and bioinformatics to analysis LncRNA expression profile during autophagy and functional studies to evaluate the function of the metastasis-associated lung adenocarcinoma transcript-1 (Malat1) lncRNA in macrophages. A total of 1112 putative lncRNAs (240 novel lncRNAs) were identified, including 831 large intergenic, 129 intronic, and 152 anti-sense lncRNA, of which 59 differentially expressed transcripts exhibited a greater than 1.5-fold change under different conditions. The interaction of Malat1 lncRNA with microRNA (mir)-23-3p and lysosomal-associated membrane protein 1 (Lamp1) was found, Malat1 releases inhibition of Lamp1 expression in macrophages through competitive adsorption of mir-23-3p. The results of this study provide a better understanding of lncRNA function in macrophages and a basis for further investigation into the roles and mechanisms of ncRNA in immunology, particularly the functions of Malat1 and mir-23-3p in the pathogenesis of macrophages.


Subject(s)
Autophagy/genetics , Lysosomal Membrane Proteins/genetics , MicroRNAs/metabolism , RNA, Long Noncoding/metabolism , Animals , Computational Biology , Mice , MicroRNAs/genetics , RAW 264.7 Cells , RNA-Seq
15.
Early Hum Dev ; 116: 64-67, 2018 01.
Article in English | MEDLINE | ID: mdl-29179057

ABSTRACT

BACKGROUND: Digit ratio (2D:4D) is fixed in utero and affected by fetal sex steroids. It has been proposed as a putative biomarker of certain hormone- related adult life traits and diseases. Several evidence suggest that 2D:4D ratio may correlate with cardiovascular disease risk (e.g., coronary artery disease). AIMS: To investigate whether there is a possible relationship between digit ratio (especially 2D:4D ratio) and coronary artery disease (CAD), and age at CAD in north Chinese women. METHODS: Photographs of the two hands of 303 females (controls: 194; patients: 109) were collected. Left hand, right hand and right minus left hand (Dr-l) digit ratio were analyzed and compared. RESULTS: The mean values of digit ratio in patients with CAD were lower than controls for each hand. Significant differences of 2D:4D (left and right hand: P<0.01), 2D:5D (left hand: P<0.01; right hand: P<0.05) and 3D:4D (left hand: P<0.01) were found between two groups. There were no associations between 2D:4D ratio and age at CAD on both hands. CONCLUSION: Decreased digit ratio (especially 2D:4D ratio) may suggest a higher prenatal testosterone (lower prenatal oestrogen) exposure in north Chinese women with coronary artery disease.


Subject(s)
Coronary Artery Disease/etiology , Fingers/anatomy & histology , Adult , Age of Onset , Aged , Asian People , Case-Control Studies , Female , Humans , Middle Aged
16.
Zhonghua Nan Ke Xue ; 24(10): 878-882, 2018 Oct.
Article in Chinese | MEDLINE | ID: mdl-32212441

ABSTRACT

OBJECTIVE: To investigate the relationship between hand dermatoglyphic traits and azoospermia in the Chinese Han males in Ningxia area. METHODS: Using the inkpad prints, we obtained dermatoglyphics of both hands from 212 Han males in Ningxia area, including 106 azoospermia patients and 106 fathers as normal controls. We analyzed the photographs of the prints with the Image-Pro Plus 6.0 software and compared the finger print patterns, finger ridge counts, atd angles (the angle between the index finger triradius ï¼»aï¼½ and the little finger triradius ï¼»dï¼½ to the axial triradius ï¼»tï¼½) and a-b ridge counts between the two groups of subjects. RESULTS: The prevalence rate of radial loops in both hands was markedly higher in the azoospermia patients than in the normal controls (3.77% vs 1.70%, P < 0.01) while that of arches showed no statistically significant difference between the two groups (1.89% vs 1.51%, P > 0.05). The prevalence rates of whorls and ulnar loops, the finger ridge counts, and the a-b ridge counts were all lower in the azoospermia patients than in the fertile controls though none with statistically significant difference between the two groups (P > 0.05). The atd angles in both hands were significantly lower in the former than in the latter group (right hand: ï¼»40.52 ± 4.61ï¼½° vs ï¼»42.99 ± 4.65ï¼½°, P < 0.05; left hand: ï¼»40.04 ± 4.21ï¼½° vs ï¼»42.18 ± 4.87ï¼½°, P < 0.05). CONCLUSIONS: There are some abnormal variations in the hand dermatoglyphic traits, especially the prevalence of radial loops and the atd angle in the Chinese Han male patients with azoospermia in Ningxia area.


Subject(s)
Azoospermia , Dermatoglyphics , Azoospermia/complications , Azoospermia/diagnosis , Case-Control Studies , China , Fingers , Hand , Humans , Male , Phenotype
17.
Brain Res ; 1678: 419-431, 2018 Jan 01.
Article in English | MEDLINE | ID: mdl-29155092

ABSTRACT

Heroin abuse is linked to a deleterious effect on cognitive functioning in the individual. Recent evidences suggest that the serotonin7 receptor (5-HT7R) is engaged in the regulation of cognitive control and the drug use-associated behaviors. However, the role of 5-HT7R in the cognitive control after acute heroin administration has not been studied. The present study aims to investigate whether the knockdown of the 5-HT7R by virus-mediated gene silencing in the medial prefrontal cortex (mPFC) could ameliorate the acute heroin-induced cognitive impairments. The attentional function, impulsivity and compulsivity were assessed by the 5-choice serial reaction time task (5-CSRTT) in mice. The memory ability and locomotor activity were examined by the novel objects recognition (NOR), Y-maze and open-field test (OFT). Acute heroin administration at 5 mg/kg produced robust disruptions in attention, impulsivity and motivation in mice. 5-HT7R knockdown in the mPFC did not affect the 5-CSRTT baseline performance, spatial working memory, visual episodic memory and locomotion. However, mPFC 5-HT7R knockdown selectively ameliorated acute heroin-induced increase in omissions and premature responses under conditions of increased perceptual load. In addition, mPFC 5-HT7R knockdown induced increases in perseverative responding observed across both saline and heroin-treated animals. Moreover, 5-HT7R knockdown prevented the heroin-induced decrease in NR1/CaMKII phosphorylation in mPFC, thus suggesting that 5-HT7R and N-methyl-d-aspartic acid (NMDA) receptor signaling may be involved in the cognitive outcomes of acute heroin administration. Altogether, these observations suggest modest and restricted effects of mPFC 5-HT7R knockdown on cognitive behaviors, both in the presence or absence of acute heroin treatment.


Subject(s)
Analgesics, Opioid/administration & dosage , Cognition/drug effects , Heroin/administration & dosage , Prefrontal Cortex/drug effects , Receptors, Serotonin/deficiency , Animals , Choice Behavior/drug effects , Choice Behavior/physiology , Exploratory Behavior/drug effects , Gene Expression Regulation/drug effects , Gene Expression Regulation/genetics , Locomotion/drug effects , Locomotion/genetics , Male , Maze Learning/drug effects , Mice , Mice, Inbred C57BL , Mice, Transgenic , Microinjections , RNA, Messenger/metabolism , RNA, Small Interfering/pharmacology , Reaction Time/drug effects , Receptors, Serotonin/genetics
18.
Early Hum Dev ; 109: 21-25, 2017 06.
Article in English | MEDLINE | ID: mdl-28426948

ABSTRACT

INTRODUCTION: Digit ratio, especially second-to-fourth digit ratio (2D:4D) is used as a biomarker of prenatal testosterone exposure and was found associated with physical ability, such as handgrip strength (HGS). Recently, this association has been discussed in several ethnic groups. AIMS: To investigate correlations between 2D:4D and HGS in Chinese population of Ningxia Hui ethnicity. METHODS: Here we firstly present the evidence on digit ratio and HGS of 346 college students (119 males and 227 females) by collecting photographs and HGS of both hands at Yinchuan city, in the Ningxia province of China. RESULTS: Females have higher mean values of digit ratio than males; significant variances of 3D:5D (left and right: P<0.05), 2D:3D, 3D:4D (left and right: P<0.01) and 2D:4D, 2D:5D (left and right: P<0.001) were found between different sex. Males showed significantly greater HGS than females on both hands. 2D:4D of both hands were significantly negative correlated with HGS in females (but not in males). CONCLUSIONS: 2D:4D ratio is negatively correlated with HGS in a Chinese population (especially in females) of Ningxia Hui ethnicity.


Subject(s)
Fingers/growth & development , Hand Strength , Adolescent , Asian People , Female , Fingers/anatomy & histology , Humans , Male , Sex Factors , Testosterone/blood , Young Adult
19.
Sci Rep ; 6: 35536, 2016 10 17.
Article in English | MEDLINE | ID: mdl-27748453

ABSTRACT

Recurrent spontaneous abortion (RSA) is a common health problem that affects women of reproductive age. Recent studies have indicated that microRNAs are important factors in miscarriage. This study investigated the role of miR-16 in regulating vascular endothelial growth factor (VEGF) expression and the pathogenesis of RSA. In this report, clinical samples revealed that miR-16 expression was significantly elevated in the villi and decidua of RSA patients. In vitro, miR-16 upregulation inhibited human umbilical vein endothelial cell proliferation, migration and tube formation. Conversely, the downregulation of miR-16 reversed these effects. In vivo, we demonstrated that abnormal miR-16 levels affect the weights of the placenta and embryo and the number of progeny and microvascular density, as well as cause recurrent abortions by controlling VEGF expression in pregnant mice. VEGF, a potential target gene of miR-16, was inversely correlated with miR-16 expression in the decidua of clinical samples. Furthermore, the luciferase reporter system demonstrated that miR-16 was found to directly downregulate the expression of VEGF by binding a specific sequence of its 3'-untranslated region (3'UTR). Collectively, these data strongly suggest that miR-16 regulates placental angiogenesis and development by targeting VEGF expression and is involved in the pathogenesis of RSA.


Subject(s)
Abortion, Habitual/genetics , MicroRNAs/metabolism , Neovascularization, Physiologic/genetics , Vascular Endothelial Growth Factor A/genetics , 3' Untranslated Regions/genetics , Adult , Animals , Base Sequence , Cell Movement/genetics , Cell Proliferation/genetics , Decidua/metabolism , Decidua/pathology , Down-Regulation/genetics , Female , Human Umbilical Vein Endothelial Cells/metabolism , Humans , Mice, Inbred C57BL , MicroRNAs/genetics , Placentation/genetics , Pregnancy , Vascular Endothelial Growth Factor A/metabolism
20.
Early Hum Dev ; 103: 141-145, 2016 12.
Article in English | MEDLINE | ID: mdl-27685464

ABSTRACT

BACKGROUND: In humans, the relative lengths of the index finger to the ring finger (2D:4D) is a sexually dimorphic trait which correlated with prenatal sex steroids and has been increasingly used as a promising tool to evaluate the impact of prenatal hormone exposure in some traits, such as physical performance. Handgrip strength (HGS) is one potent index of physical ability and its relationship with 2D:4D ratio has been discussed in several ethnic groups. AIMS: To investigate whether there is a correlation between 2D:4D ratio and HGS in Chinese college students of Ningxia Han ethnicity. METHODS: 608 students (211 males and 397 females) of Han ethnicity were recruited from Ningxia medical university. Photocopies and HGS of both hands were collected at Yinchuan city, in the Ningxia province of China. RESULTS: Sexual dimorphism of 2D:4D and HGS were found, males had significantly lower 2D:4D and greater HGS than females. 2D:4D in both hands were significantly negative correlated with HGS in females and not in males. CONCLUSIONS: 2D:4D ratio is negative correlated with HGS in a Chinese population of Ningxia Han ethnicity and this association should be considered on the anthropological research within an evolutionary concept in the future.


Subject(s)
Fingers/anatomy & histology , Hand Strength , Sex Characteristics , Adolescent , China , Female , Fingers/growth & development , Fingers/physiology , Humans , Male , Young Adult
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