Human Gene最新文献

Background

The zoonotic infection known as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the cause of the coronavirus disease 19 (COVID-19) pandemic and a public health hazard. This virus outbreak has infected people from all around the world. The Omicron variant has become the most transmissible and immune-evasive form of SARS-CoV-2 with numerous mutations. The Omicron variant has sparked international concern and has become the dominant variant in multiple regions. The globe is scrambling to find and develop coronavirus disease vaccinations to be protected during this war. Vaccine phobia is one of the most significant barriers to global health. This review emphasizes the continual improvements in the conception and creation of various vaccination platforms. These compositions, difficulties, restrictions, and the mechanism of action are also covered. Additionally, the efficiency of the top vaccination candidates against all dangerous SARS-CoV-2 mutations is emphasized.

Results

This new disease is pressuring scientists to find a safe and effective vaccination as soon as possible. This review indicates a global effort by scientists and businesses to attain one of the century's most challenging goals.

Conclusions

The COVID-19 vaccine differs in approaches and technologies that are used in developing it, which affects its overall effectiveness and side effects, and that can lead us to select the proper vaccine for a suitable case with the best route of administration.

Background

Breast cancer (BC), a major global health concern, exhibits molecular heterogeneity influencing treatment decisions. The HER2 gene, particularly the Ile655Val (rs1136201) polymorphism, has been implicated in breast cancer susceptibility, though prior studies present varied findings.

Objective

This meta-analysis explores the correlation between HER2 gene polymorphism and the risk of developing breast cancer.

Methods

A systematic literature exploration was accomplished using PubMed, Embase, and Google Scholar databases. Inclusion criteria encompassed case-control or probable study design, the association of the HER2 gene with breast cancer, and the availability of genotypic data. The Newcastle-Ottawa Scale assessed study quality. Quantitative data analysis employed Review Manager 5.4 and MetaGenyo software, with significance at p < 0.05.

Results

Six studies, encompassing 1964 breast cancer cases and 2511 controls, were incorporated into the analysis. Various genetic models (allele contrast, dominant, over-dominant, recessive) consistently presented a significant correlation linking HER2 polymorphism and breast cancer.

Conclusion

The HER2 gene, vital for cell growth, is implicated in breast cancer. Studies present diverse findings on the association of ethnicity with outcomes. Our meta-analysis supports a significant link, contributing to the understanding of genetic factors in breast cancer. Despite mixed findings in the literature, Our meta-analysis reveals a substantial link between HER2 gene polymorphism and breast cancer. This research adds valuable insights to the existing knowledge, emphasizing the need for continued exploration of HER2 gene polymorphism mechanisms and the importance of diverse population studies. The identified association could have implications for breast cancer risk assessment, early diagnosis, and personalized treatment strategies.

Purpose

PCOS is a multifaceted endocrine disorder with a complex etiology that includes genetic and environmental influences. The Anti-Mullerian Hormone is essential in menstrual disorders and fertility, as it is involved in growth differentiation and folliculogenesis. The AMH gene polymorphism, specifically p.Ile49Ser, has been proposed to play a role in the pathogenesis of PCOS, but its significance in Indian populations has yet to be determined.

Methods

A case-control study was carried out on 129 women from Gujarat, India, aged 13 to 40 years (59 with PCOS and 70 controls). Clinical, biochemical, and hormonal parameters were examined, and tetra-ARMS PCR was used for genotyping the AMH gene polymorphism (p.Ile49Ser). The relationships between polymorphism, hormonal imbalances, and PCOS were studied using different statistical methods.

Results

The mean BMI in the PCOS group was significantly higher (27.32 ± 5.71) in comparison to the control group (23.81 ± 5.47, p = 0.001), with 67.80% of PCOS cases being obese. Notably, serum LH and T levels were significantly higher in PCOS women, whereas DHEAS levels were significantly lower (p < 0.05). However, the distribution of AMH gene rs10407022 genotypes and alleles did not differ significantly between groups, and no associations with PCOS risk were found.

Conclusion

Obesity and hormonal imbalances have a significant impact on PCOS in Gujarati women, according to this study. Even though the AMH gene polymorphism (p.Ile49Ser) did not show a significant association with PCOS, the findings encourage further genetic research in diverse Indian populations to uncover the complex genetic background of PCOS.

Background

In the immunopathology of multiple sclerosis (MS), genetic factors are thought to trigger autoimmunity by acting through T and B lymphocytes and microglia. The EZH2 gene is known to play a role in the development and differentiation of these cells. The aim of this study was to compare the protein levels of EZH2 in the blood samples of people with MS (PwMS) with the clinical characteristics of the patients and the control group.

Methods

Sociodemographic and clinical data and venous blood samples were obtained from PwMS and an age- and gender-matched control group. Samples were stored under appropriate conditions, and protein levels of EZH2 was measured by ELISA.

Results

The study included 22 PwMS aged 20–54 years and 21 controls aged 21–51 years. EZH2 protein levels were lower in patients than in controls(p < 0.001). There was no difference between relapsing-remitting and progressive MS(p = 0.747). There was no difference between patients with a history of relapses in the past 2 years and those without relapses(p = 0.794). There was no difference between the patients with a normal neurological examination and those without (p = 0.478). There was no correlation between EZH2 protein levels and disease duration, time of first attack, age at diagnosis, treatment duration, Expanded Disability Status Scale.

Conclusion

In our study, we found that EZH2 protein levels were lower in PwMS compared to the control group which suggests that decrease in EZH2 protein expression may play a role in the immunopathogenesis of MS. This study may provide preliminary information for future research.

Background

To date, the shared genes and molecular pathways between atherosclerosis and IBD have not been investigated based on a systems biology approach. Identifying common genes and molecular pathways can help in designing treatment strategies in patients. Therefore, in this study, we focused on examining this subject.

Material and methods

GenCLip3 and DisGeNET databases were used to identify the genes related to IBD and atherosclerosis. The protein-protein interaction (PPI) analysis of the common genes was designed by STRING database and visualized using Cytoscape. Hub genes were determined using the Cytohubba plugin of Cytoscape. The miRTarBase and ChEA databases linked to Enrichr tool were used to identify the transcription factors (TFs) and microRNAs (miRNAs) that target the hub genes.

Result

Using GenCLip3 and DisGeNET databases, 338 genes were found to be shared between the IBD and atherosclerosis. PPI network and hub gene analyses identified 8 hub genes including STAT3, RELA, MAPK3, MAPK1, PIK3CA, AKT1, TP53 and TNF-α. According to the results, hsa-miR-146a-5p and RELA has the most interactions with hub genes among miRNAs and transcription factor (TF). Gene ontology (GO) analysis showed that hub genes were mainly involved in inflammatory pathways and immune cells. Furthermore, in terms of the KEGG pathway (Fig.4) they were mainly involved in Cytokine-cytokine receptor interaction, Lipid and atherosclerosis, Pathways in cancer, AGE-RAGE signaling pathway in diabetic complications, and TNF signaling pathway.

Conclusion

The evaluation of common gene hubs between IBD and atherosclerosis can be helpful in identifying pathogenesis factors as well as designing treatment strategies.

Head and neck squamous cell carcinoma (HNSCC) is a complex, polygenic disorder involving the host, microbial, and environmental factors. The present study investigated the CDKN2A (cyclin-dependent kinase inhibitor 2 A) gene interacting network. This gene is a key player in the cell cycle pathway, and any abnormalities in this gene have been linked to abnormal cell cycle processes. The present study followed an observational study design wherein computational tools were used to demonstrate the genetic alterations, expression profile, and survival status of head and neck cancer patients. The head and neck squamous cell carcinoma and oral squamous cell carcinoma datasets (The Cancer Gene Atlas (TCGA), Firehose Legacy) were analyzed. The cBioportal and UALCAN [University of ALabama at Birmingham CANcer data analysis Portal] were used to demonstrate the genetic alterations and gene expression profile alongside the survival of patients. The oncoprint data analysis of the CDKN2A gene network showed 72% and 48% of aberrations in the TP53 gene among HNSCC and OSCC (Oral Squamous Cell Carcinoma) cases, respectively. The gene expression profile demonstrated over-expression of CDKN2A in primary tissues. The survival analysis showed a statistically significant difference between the low/medium and high expression groups. The deep deletion was the common alteration observed among head and neck cancer patients of the CDKN2A gene. The gene expression profile showed significant upregulation of CDKN2A in primary tissues [p = 〈10⁻¹²]. The genetic alterations observed in the CDKN2A gene were found to correlate well with the survival status of head and neck cancer patients. The functional validation of the mutations and alterations observed in this gene would aid us in understanding the vital role of this gene network in the process of oral carcinogenesis.

The follicular thyroid neoplasm (FTN) is like an unsolved puzzle at some stage in preoperative diagnosis. Usually, for preliminary characterization of thyroid lesions, clinicians depend much on fine-needle aspiration cytology (FNAC). However, in the case of FTN, FNAC cannot distinguish between benign and malignant entities, as both are exhibiting predominant follicular architecture. Cytological/ architectural/ or cellular criteria alone is not enough to differentiate Follicular adenoma (FA), Follicular thyroid carcinoma (FTC), Follicular variant of papillary thyroid carcinoma (FVPTC) together with Non-Invasive Follicular variant of Papillary Thyroid Carcinoma (NIFTP), Encapsulated FVPTC (EFVPTC) and well-differentiated neoplasm of uncertain malignant potential. Thus, the genetic analysis can be used as a novel diagnostic approach that should be applied with the traditional method for easy diagnosis of follicular thyroid neoplasm, which reduces the risk of unnecessary surgeries. This present study tried to explore the current genetic assessment of FTN through review of the genetics of FTN studied from 2009 to 2019 which showed the characterization of differential gene expression in these follicular neoplasms some extent. Also, pathway analysis has potentially implemented to minimize the diagnosis dilemma. In addition to the previously identified pathways and associated target genes, some novel endocrine cancer-related pathways with putative target genes of FTN have been remoted from characterizing tumor with follicular pattern. The observed genes might be considered as diagnostic biomarker in the respective FTN associated metabolic pathways.

The inception of NGS technology in forensic DNA analysis explores the sequence-based alleles in STR markers. This allows the in-depth analysis of observed STR allelic sequences to understand their nature, stability, inheritance, and possible generation of artifacts during their analysis. In the current study, 100 allelic sequences at 20 STR markers generated using the NGS technique were analyzed for their sequence topographies and prediction of secondary structures. The G + C content of the alleles observed in 20 STR markers used in this study varied from 58.65 ± 1.367% (D2S1338) to 7.62 ± 0.844% (D12ATA63). The average exact mass of one stand and for the opposite stand mass was found to be highest in FGA (25,963.248 ± 1623.271; 27,501.720 ± 1712.691), whereas, D4S2408 generated the lowest exact mass of one stand and for the opposite stand mass (11,136.354 ± 1521.757; 11,582.021 ± 1585.486). As expected, none of the STR markers showed the presence of open reading frames, Codons, and CRISPR sequences. Three STR markers viz. D2S1338, TH01, and D5S2800 showed the presence of restriction sites for Cac8I, TspGWI, TspDTI, AccI, and Hpy8I enzymes. Phylogenetic analysis reveals the close association of alleles between the D12ATA63 and D19S433 markers. Stable pseudoknots were predicted at alleles of D2S1338 showing an average energy of −0.76 with the highest number of nucleotides present in the pseudoknots i.e., 21.33, suggesting this marker is more prone to generate amplification artifacts.

Lung cancer (LC) is the leading cause of cancer death globally, with late-stage detection contributing to poor prognosis and high mortality. Despite efforts to improve therapies, long-term survival rates have not significantly improved. Early detection of LC is crucial for better outcomes. Non-coding RNA molecules known as microRNAs (miRs) control the post-transcriptional regulation of gene expression and hold promise as biomarkers in LC patients' body fluids, such as sputum. This study aimed to develop a non-invasive diagnostic approach for distinguishing adenocarcinoma (ADC) and squamous cell carcinoma (SCC) subtypes of LC using identified candidate miRs from in-silico analysis of RNA sequencing datasets. The study utilized the Cancer Genome Atlas Program (TCGA) datasets and validated the findings through qRT-PCR analysis of sputum samples. The miR-944 and miR-326 were found to be significantly upregulated in SCC compared to ADC samples. Combining these miRs achieved excellent discrimination, effectively distinguishing SCC from ADC in LC with an AUC of 0.985. In conclusion, miR-944 and miR-326 show promise as potential biomarkers in sputum for differentiating between SCC and ADC in LC. These findings propose a non-invasive diagnostic approach that could facilitate early detection and improve patient outcomes for these specific subtypes of LC.

Breast cancer metastasis

As the second most common cause of cancer-related deaths in women, breast cancer plays a major part in the development of the disease. Resistance to chemotherapy is frequently accompanied by metastasis, a leading cause of death. Elevated in both original tumor and metastatic sites, the chemokine gene CXCL12 plays a crucial role in the metastasis of lung, ovarian, breast, and prostate cancers. Chemoresistance is a complicated issue that has intrinsic causes and adds to treatment difficulties.

Impact of the microenvironment

Drug resistance is significantly influenced by the cancer microenvironment. Chemotherapy shrinks the initial size of the tumor, while cytotoxic medicines and hormone treatment are part of standard therapy. Relapse, however, is dangerous and calls for more stringent action. Combining chemotherapy with CXCL12 receptor inhibition has demonstrated potential in saving breast cancer patients.

CXCL12 and CXCR4

The low-molecular-weight chemokine CXCL12 affects the migration of leukocytes, the development of embryos, and the spread of cancer. Its ligand, the CXCR4 receptor, is a member of the CXCR family and promotes leukocyte migration and the formation of new blood vessels. This axis is connected to inflammation, migration, and tumor invasion. Drug-resistant people have increased expression of CXCL12, which influences several biological processes via autocrine and paracrine pathways.