Guest Editors
Dr. Jianxin Shi, Shanghai Jiao Tong University, China. shijianxin_sch@126.com
Dr. Jun Yang, Shanghai Jiao Tong University, China. jyang_sch@163.com
Dr. Chang Gu, Tongji University School of Medicine, China. guchang0107@126.com
Summary
With the rapid development of multiple sequencing methods, genetic studies have seen explosive growth, which have identified various risk variants and pathways related to the underlying pathogenesis, genetic and epigenetic mechanisms of human complex diseases. Sequencing-based technologies include high throughput RNA/DNA sequencing, RNA/DNA methylome-seq, T-cell receptor-seq, ATAC-seq, single-cell sequencing and so on. The molecular era has uncovered aspects of genetics, epigenetics and even environmental factors that, all together, affect susceptibility to a variety of complex diseases.
On the promise of the above sequencing-based approaches, simultaneously, integrating multiscale biological data (imaging, pathological and clinical data) will greatly help identifying specific genetic and epigenetic markers for diverse complex diseases. Molecular genetics and epigenetics features, and the mechanisms of the onset of different complex diseases, are of great importance to understand and verify new targets. All the markers have the potential for disease diagnosis, progress and treatment, especially for personalized medicine. However, the major challenge is to extract novel disease risks from multiscale biological data using biological, statistics or computer-based methods. There is an urgent need to incorporate these identified disease markers within their risk analysis models, and being served as a powerful tool for personalized medicine in the aspect of complex diseases, contributing to superior diagnosis, prognosis, and treatment.
In this Special Issue, we welcome original research, review, methods, brief report and case report associated with genetic and epigenetic markers for complex diseases that include, but are not limited to the following:
• Integrative genomics studies identify new genes associated with specific complex diseases.
• Statistical methods and database for integrating multiscale biological data.
• Epigenetic studies identify disease pathogenesis mechanisms and potential therapeutic targets for specific complex diseases.
• DNA methylation and RNA methylation markers or histone modification markers including acetylation, ubiquitination, etc., which are involved in complex diseases.
• Gene-Environment studies identify disease diver gene or modifier gene or risk gene via interaction with various environmental factors.
• Bioinformatics, computational analysis, or predictions of public databases for identifying novel disease markers.
• Cellular and animal models revealing the genetic and epigenetic markers and their roles in mechanisms of pathogenesis and progression in complex diseases.
• Disease mechanisms studies using omics approaches and new biological models.
• Potential therapeutic targets for complex diseases.
• Clinical diagnosis and biomarkers for complex diseases.
Keywords
Genetic and Epigenetic Markers, Complex Diseases, Biological Models, Genes, Diagnosis
Published Papers
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Open Access
ARTICLE
Are the two polymorphic sites of anti-Marek’s disease in White Leghorn chickens also suitable for Partridge Shank chickens?
WENQING LI, WANLI LI, BEI WANG, LIN ZHANG, SHENGLI LI, CHENWAN LI, PINHUI WU, GUOQING YANG, GUOZHI ZHANG
BIOCELL, DOI:10.32604/biocell.2023.027863
（This article belongs to this Special Issue:
Identification of Genetic and Epigenetic Markers for Complex Diseases via Integrating Multistage Biological Data)
Abstract Background: The selection of Marek’s disease (MD)-resistant breeds in Partridge Shank chicken, a popular
local chicken breed in Henan Province of China, has practical value. We hypothesized that the two polymorphic sites
(
rs14527240 located in
SMOC1 and
GGaluGA156129 located in PTPN3) related to MD resistance in White Leghorn
chickens are also applicable to Partridge Shank chickens.
Methods: In this experiment, we screened 10 live hens and 2
live roosters with the double GG genotype by genotyping the two sites from 6500 Partridge Shank chickens. Nineteen
one-day-old chicks with the double GG genotype were obtained by artificial insemination. Seventy-two one-day-old
chickens…
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Open Access
REVIEW
Biochemical association between the prevalence of genetic polymorphism and myocardial infarction
MOMINA SHAHID, KANWAL REHMAN, MUHAMMAD SAJID HAMID AKASH, SHALEEM SUHAIL, SUMBAL RASHEED, MUHAMMAD IMRAN, MOHAMMED A. ASSIRI
BIOCELL, Vol.47, No.3, pp. 473-484, 2023, DOI:10.32604/biocell.2023.025930
（This article belongs to this Special Issue:
Identification of Genetic and Epigenetic Markers for Complex Diseases via Integrating Multistage Biological Data)
Abstract Genetic polymorphism has a vital role in the pathogenesis and development of myocardial infarction (MI). Single nucleotide polymorphism at any one of the amino acid sequences can result in a diseased state. A single gene can exhibit genetic polymorphism at more than one position giving rise to different variants. Genetic polymorphism of angiotensinogen (AGT) M235T, AGT T174M, and angiotensin-1-converting enzyme (ACE) I/D, endothelial nitric oxide synthase (eNOS), and methylenetetrahydrofolate reductase (MTHFR) can be a risk factor for MI. However, it is important to study the prevalence of genetic polymorphisms of these genes among different populations. MI is influenced by genetic…
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Open Access
REVIEW
Research progress of protein phosphatase 2A in cellular autophagy
HONGMEI WU, DI LI, YUANYUAN HUANG, RUYUAN LIU, XIAONIAN ZHU
BIOCELL, Vol.47, No.3, pp. 485-491, 2023, DOI:10.32604/biocell.2023.026049
（This article belongs to this Special Issue:
Identification of Genetic and Epigenetic Markers for Complex Diseases via Integrating Multistage Biological Data)
Abstract Autophagy is an important metabolic process. It facilitates the recycling of intracellular substances by removing, degrading, and recycling damaged organelles, proteins, and lipids in lysosomal vacuoles and plays an important role in maintaining cellular homeostasis. Protein phosphatase 2A (PP2A) is a key serine/threonine phosphatase and one of the main cell cycle regulatory enzymes. As PP2A activity is essential for the cell, dysfunction or dysregulation of PP2A can affect various physiological processes, including autophagy. Here, we review the autophagy-related factors that target PP2A in different diseases, such as breast cancer, colorectal cancer, liver cancer, and Alzheimer’s disease, to maintain cell homeostasis…
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Open Access
ARTICLE
KIF15, a key regulator of nasopharyngeal carcinoma development mediated by the P53 pathway
YONGLI WANG, SHENHONG QU, YONG YANG, YING QIN, FEI LIU, GUANGWU HUANG
BIOCELL, Vol.47, No.3, pp. 533-545, 2023, DOI:10.32604/biocell.2023.025280
（This article belongs to this Special Issue:
Identification of Genetic and Epigenetic Markers for Complex Diseases via Integrating Multistage Biological Data)
Abstract Background: Kinesin family member 15 (KIF15) is a protein that regulates cell mitosis and plays an important
role in the development and progression of several types of human cancers. However, the role of KIF15 in the
development of nasopharyngeal cancer (NPC) is still unclear.
Methods: The differential expression of KIF15 in NPC
and para-carcinoma tissues was evaluated based on data collected from Gene Expression Omnibus (GEO) database
and immunohistochemical analysis of clinical specimens collected from a patient cohort. Cell lines 5-8F and CNE-2Z
were selected for the construction of KIF15‑knockdown cell models. CCK8 assay, flow cytometry, wound healing,
Transwell and…
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Open Access
ARTICLE
ENST00000535926 is an unfavorable prognosis-related and tumor-promoting transcript of the CHPF gene in luminal A and B breast cancer
JING LUO, JIANPING HE, YONG LUO, CHENG YI
BIOCELL, Vol.47, No.2, pp. 309-318, 2023, DOI:10.32604/biocell.2023.025377
（This article belongs to this Special Issue:
Identification of Genetic and Epigenetic Markers for Complex Diseases via Integrating Multistage Biological Data)
Abstract Chondroitin sulfate synthase 2 (
CHPF) is characterized as an oncogenic and poor prognosis-related gene in breast cancer. However, this gene has alternative splicing products encoding proteins of different lengths. Breast cancer is a group of heterogeneous tumors with distinct clinical and genomic characteristics. In this study, we explored the expression profile and prognostic value of the two transcripts of
CHPF using data from The Cancer Genome Atlas (TCGA)-BRCA. The functional regulation of the two transcripts was also studied in MCF-7 and BT-474 cells. Among the two transcripts of
CHPF,
ENST00000535926 expression was significantly upregulated in the tumor samples and was…
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Open Access
ARTICLE
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Open Access
ARTICLE
Upregulation of histone H3 caused by CRYAA may contribute to the development of age-related cataract
CHAO WANG, JUNWEI WANG, FANQIAN SONG, HANRUO LIU, LIYAO SUN, XI WEI, TAO ZHENG, HUA QIAN, XIAOGUANG LI, WEIHUA ZHANG, XIANLING TANG, PING LIU
BIOCELL, Vol.47, No.1, pp. 143-154, 2023, DOI:10.32604/biocell.2023.023585
（This article belongs to this Special Issue:
Identification of Genetic and Epigenetic Markers for Complex Diseases via Integrating Multistage Biological Data)
Abstract Objective: Age-relate cataract (ARC) is a disease of the eyes with no effective drugs to prevent or treat patients.
The aim of the present study is to determine whether histone H3, αA-crystallin (CRYAA), β-galactosidase (GLB1), and
p53 are involved in the pathogenesis of ARC.
Methods: A total of 99 anterior lens capsules (ALCs) of patients with ARC
of various nuclear grades, ultraviolet models of ALCs, and two human lens epithelial cell lines (FHL-124 and SRA01/04)
were used, and the expression of histone H3, CRYAA, GLB1, and p53 were detected by immunoblotting and reverse
transcription and real time-quantitative polymerase chain reaction.…
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Open Access
ARTICLE
Development of a prognostic signature for esophageal cancer based on a novel 7-DNA damage repair genes signature
JIAMING ZHAN, WEIHUA WANG, YANLEI TANG, NING ZHOU, DAOWEN JIANG
BIOCELL, Vol.46, No.12, pp. 2601-2613, 2022, DOI:10.32604/biocell.2022.021300
（This article belongs to this Special Issue:
Identification of Genetic and Epigenetic Markers for Complex Diseases via Integrating Multistage Biological Data)
Abstract Esophageal cancer (EC) was an aggressive malignant neoplasm characterized by high morbidity and poor prognosis. Identifying the changes in DNA damage repair genes helps to better understand the mechanisms of carcinoma progression. In this study, by comparing EC samples and normal samples, we found a total of 132 DDR expression with a significant difference. Moreover, we revealed higher expression of POLN, PALB2, ATM, PER1, TOP3B and lower expression of HMGB1, UBE2B were correlated to longer OS in EC. In addition, a prognostic risk score based on 7 DDR gene expression (POLN, HMGB1, TOP3B, PER1, UBE2B, ATM, PALB2) was constructed for…
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Open Access
ARTICLE
Human cytomegalovirus autophagy is related to the interferon synthesis and mTOR signal pathway
DONGMEI GAO, JIAOE CHEN, HONGZHANG LI, JUN ZHAO
BIOCELL, Vol.46, No.10, pp. 2275-2280, 2022, DOI:10.32604/biocell.2022.021008
（This article belongs to this Special Issue:
Identification of Genetic and Epigenetic Markers for Complex Diseases via Integrating Multistage Biological Data)
Abstract Introduction: Human cytomegalovirus (HCMV) is reported to be involved in the occurrence of many human diseases. To further investigate the biological changes of HCMV, we analyzed the relevant factors that affect the autophagy caused by HCMV infection.
Methods: Firstly, we cultured human embryonic lung fibroblasts (HELF) cells with HCMV infection, and evaluated the effects of HELF cells infected with different viruses through Enzyme-linked immunoabsorbent assay (ELISA), Real-time quantitative Polymerase Chain Reaction (RT-qPCR), Acridine orange (AO) staining and Western blotting (WB) experiments.
Results: Through the above experiments, we found that the combined treatment of HCMV infection and carbamazepine, rapamycin and si-mTOR…
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