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Genes and Human Diseases 2.0

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 30 August 2024 | Viewed by 5176

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Guest Editor
Department of Medical Biological Disciplines, Belgorod State University, 85 Pobedy Street, 308015 Belgorod, Russia
Interests: genes; human diseases; associations; biomarkers; bioinformatic analysis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is a continuation of our previous Special Issue, “Genes and Human Diseases”.

The study of the causes and mechanisms of human disease development, despite the numerous works carried out in this field, continues to be the focus of attention of various scientific research teams. The essential role of genetic factors in the formation of the vast majority of human diseases is beyond doubt. At the same time, despite the substantial accumulated factual material on this theme, there is no complete and definitive understanding of the pathogenetics of most human diseases at the moment. Often, the data obtained are not confirmed in subsequent studies, and in some cases, they are contradictory. It is necessary to continue further genetic-epidemiological studies in order to establish genetic factors that determine the susceptibility to various human diseases in different ethnic and territorial groups. Obtaining new data on the contribution of genetic factors to the formation of human diseases and the role of gene–gene and gene–environment interactions affecting the risk of developing diseases will significantly advance our understanding of the pathogenetics of diseases. Ultimately, this will create prerequisites for the use of candidate genes as effective biomarkers in practical medicine.

This Special Issue will compile new data on the role of genetic factors in the formation of different human diseases to better-understand the genetic and molecular mechanisms of human disorder development.

Prof. Dr. Mikhail I. Churnosov
Guest Editor

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Published Papers (5 papers)

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Research

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13 pages, 902 KiB  
Article
Analysis of VEGF, IGF1/2 and the Long Noncoding RNA (lncRNA) H19 Expression in Polish Women with Endometriosis
by Beata Smolarz, Tomasz Szaflik, Hanna Romanowicz, Magdalena Bryś, Ewa Forma and Krzysztof Szyłło
Int. J. Mol. Sci. 2024, 25(10), 5271; https://doi.org/10.3390/ijms25105271 - 12 May 2024
Viewed by 396
Abstract
The coordinated action of VEGF, IGF1/2 and H19 factors influences the development of endometriosis. The aim of this study was to analyze the expression level of these genes in patients with endometriosis. The study group consisted of 100 patients who were diagnosed with [...] Read more.
The coordinated action of VEGF, IGF1/2 and H19 factors influences the development of endometriosis. The aim of this study was to analyze the expression level of these genes in patients with endometriosis. The study group consisted of 100 patients who were diagnosed with endometriosis on laparoscopic and pathological examination. The control group consisted of 100 patients who were found to be free of endometriosis during the surgical procedure and whose eutopic endometrium wasnormal on histopathological examination. These patients were operated on for uterine fibroids. Gene expression was determined by RT-PCR. The expression of the VEGF gene was significantly higher in the samples classified as clinical stage 1–2 compared to the control material (p < 0.05). There was also a statistically significant difference between the samples studied at clinical stages 1–2 and 3–4 (p < 0.01). The expression of the VEGF gene in the group classified as 1–2 was significantly higher. IGF1 gene expression was significantly lower both in the group of samples classified as clinical stages 1–2 and 3–4 compared to the control group (p < 0.05 in both cases). The expression of the H19 gene was significantly lower in the group of samples classified as clinical stage 3–4 compared to the control group (p < 0.01). The reported studies suggest significant roles of VEGF, IGF and H19 expression in the pathogenesis of endometriosis. Full article
(This article belongs to the Special Issue Genes and Human Diseases 2.0)
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32 pages, 5088 KiB  
Article
Sex-Hormone-Binding Globulin Gene Polymorphisms and Breast Cancer Risk in Caucasian Women of Russia
by Irina Ponomarenko, Konstantin Pasenov, Maria Churnosova, Inna Sorokina, Inna Aristova, Vladimir Churnosov, Marina Ponomarenko, Evgeny Reshetnikov and Mikhail Churnosov
Int. J. Mol. Sci. 2024, 25(4), 2182; https://doi.org/10.3390/ijms25042182 - 11 Feb 2024
Cited by 2 | Viewed by 978
Abstract
In our work, the associations of GWAS (genome-wide associative studies) impact for sex-hormone-binding globulin (SHBG)-level SNPs with the risk of breast cancer (BC) in the cohort of Caucasian women of Russia were assessed. The work was performed on a sample of 1498 women [...] Read more.
In our work, the associations of GWAS (genome-wide associative studies) impact for sex-hormone-binding globulin (SHBG)-level SNPs with the risk of breast cancer (BC) in the cohort of Caucasian women of Russia were assessed. The work was performed on a sample of 1498 women (358 BC patients and 1140 control (non BC) subjects). SHBG correlated in previously GWAS nine polymorphisms such as rs780093 GCKR, rs17496332 PRMT6, rs3779195 BAIAP2L1, rs10454142 PPP1R21, rs7910927 JMJD1C, rs4149056 SLCO1B1, rs440837 ZBTB10, rs12150660 SHBG, and rs8023580 NR2F2 have been genotyped. BC risk effects of allelic and non-allelic SHBG-linked gene SNPs interactions were detected by regression analysis. The risk genetic factor for BC developing is an SHBG-lowering allele variant C rs10454142 PPP1R21 ([additive genetic model] OR = 1.31; 95%CI = 1.08–1.65; pperm = 0.024; power = 85.26%), which determines 0.32% of the cancer variance. Eight of the nine studied SHBG-related SNPs have been involved in cancer susceptibility as part of nine different non-allelic gene interaction models, the greatest contribution to which is made by rs10454142 PPP1R21 (included in all nine models, 100%) and four more SNPs—rs7910927 JMJD1C (five models, 55.56%), rs17496332 PRMT6 (four models, 44.44%), rs780093 GCKR (four models, 44.44%), and rs440837 ZBTB10 (four models, 44.44%). For SHBG-related loci, pronounced functionality in the organism (including breast, liver, fibroblasts, etc.) was predicted in silico, having a direct relationship through many pathways with cancer pathophysiology. In conclusion, our results demonstrated the involvement of SHBG-correlated genes polymorphisms in BC risk in Caucasian women in Russia. Full article
(This article belongs to the Special Issue Genes and Human Diseases 2.0)
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16 pages, 2538 KiB  
Article
Sequence Variant Analysis of the APOCII Locus among an Arab Cohort
by Suzanne A. Al-Bustan, Maryam H. Alrashid, Ahmad E. Al-Serri, Babitha G. Annice and Hussain M. Bahbahani
Int. J. Mol. Sci. 2023, 24(22), 16293; https://doi.org/10.3390/ijms242216293 - 14 Nov 2023
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Abstract
Apolipoprotein CII (ApocII) plays a key role in regulating lipoprotein lipase (LPL) in lipid metabolism and transport. Numerous polymorphisms within APOCII are reportedly associated with type 2 diabetes mellitus (T2DM), dyslipidemia, and aberrant plasma lipid levels. Few studies have investigated sequence variants at [...] Read more.
Apolipoprotein CII (ApocII) plays a key role in regulating lipoprotein lipase (LPL) in lipid metabolism and transport. Numerous polymorphisms within APOCII are reportedly associated with type 2 diabetes mellitus (T2DM), dyslipidemia, and aberrant plasma lipid levels. Few studies have investigated sequence variants at APOCII loci and their association with metabolic disorders. This study aimed to identify and characterize genetic variants by sequencing the full APOCII locus and its flanking sequences in a sample of the Kuwaiti Arab population, including patients with T2DM, hypertriglyceridemia, non-Arab patients with T2DM, and healthy Arab controls. A total of 52 variants were identified in the noncoding sequences: 45 single nucleotide polymorphisms, wherein five were novel, and seven insertion deletions. The minor allele frequency (MAF) of the 47 previously reported variants was similar to the global MAF and to that reported in major populations. Sequence variant analysis predicted a conserved role for APOCII with a potential role for rs5120 in T2DM and rs7133873 as an informative ethnicity marker. This study adds to the ongoing research that attempts to identify ethnicity-specific variants in the apolipoprotein gene loci and associated LPL genes to elucidate the molecular mechanisms of metabolic disorders. Full article
(This article belongs to the Special Issue Genes and Human Diseases 2.0)
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15 pages, 3138 KiB  
Article
Cervical and Vaginal Microbiomes in Early Miscarriages and Ongoing Pregnancy with and without Dydrogesterone Usage
by Mariya Gryaznova, Olesya Kozarenko, Yuliya Smirnova, Inna Burakova, Mikhail Syromyatnikov, Alexander Maslov and Olga Lebedeva
Int. J. Mol. Sci. 2023, 24(18), 13836; https://doi.org/10.3390/ijms241813836 - 8 Sep 2023
Cited by 1 | Viewed by 1147
Abstract
Emerging evidence suggests that the reproductive tract microbiota is a key modulator of local inflammatory and immune pathways throughout pregnancy and may subsequently impact pregnancy outcomes. In this study, our objective was to analyze the cervical and vaginal microbiomes during early pregnancy among [...] Read more.
Emerging evidence suggests that the reproductive tract microbiota is a key modulator of local inflammatory and immune pathways throughout pregnancy and may subsequently impact pregnancy outcomes. In this study, our objective was to analyze the cervical and vaginal microbiomes during early pregnancy among three groups: women with healthy ongoing pregnancies, women undergoing dydrogesterone treatment, and those who experienced miscarriages. The experiment involved 51 women at 8–11 weeks of gestation. The microbiome was examined using 16S rRNA sequencing on the Ion Torrent PGM platform. Across all groups, Lactobacillus iners was predominant, suggesting that the vaginal community type CST III is common among the majority of participants. Notably, our data highlighted the significant roles of Gardnerella vaginalis and Mycoplasma girerdii in the pathogenesis of early miscarriage. Conversely, L. iners and Bifidobacterium longum have a protective effect in early pregnancy. Moreover, dydrogesterone intake appeared to influence notable differences between the cervical and vaginal microbiomes. Overall, our study enhanced our understanding of the cervical and vaginal microbiome composition in the eastern European population during early pregnancy. Full article
(This article belongs to the Special Issue Genes and Human Diseases 2.0)
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Review

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17 pages, 1380 KiB  
Review
Chromosomal Instability in Gastric Cancer: Role in Tumor Development, Progression, and Therapy
by Marina V. Nemtsova, Ekaterina B. Kuznetsova and Irina V. Bure
Int. J. Mol. Sci. 2023, 24(23), 16961; https://doi.org/10.3390/ijms242316961 - 30 Nov 2023
Cited by 1 | Viewed by 1262
Abstract
According to the Cancer Genome Atlas (TCGA), gastric cancers are classified into four molecular subtypes: Epstein–Barr virus-positive (EBV+), tumors with microsatellite instability (MSI), tumors with chromosomal instability (CIN), and genomically stable (GS) tumors. However, the gastric cancer (GC) with chromosomal instability remains insufficiently [...] Read more.
According to the Cancer Genome Atlas (TCGA), gastric cancers are classified into four molecular subtypes: Epstein–Barr virus-positive (EBV+), tumors with microsatellite instability (MSI), tumors with chromosomal instability (CIN), and genomically stable (GS) tumors. However, the gastric cancer (GC) with chromosomal instability remains insufficiently described and does not have effective markers for molecular and histological verification and diagnosis. The CIN subtype of GC is characterized by chromosomal instability, which is manifested by an increased frequency of aneuploidies and/or structural chromosomal rearrangements in tumor cells. Structural rearrangements in the CIN subtype of GC are not accidental and are commonly detected in chromosomal loci, being abnormal because of specific structural organization. The causes of CIN are still being discussed; however, according to recent data, aberrations in the TP53 gene may cause CIN development or worsen its phenotype. Clinically, patients with the CIN subtype of GC demonstrate poor survival, but receive the maximum benefit from adjuvant chemotherapy. In the review, we consider the molecular mechanisms and possible causes of chromosomal instability in GC, the common rearrangements of chromosomal loci and their impact on the development and clinical course of the disease, as well as the driver genes, their functions, and perspectives on their targeting in the CIN subtype of GC. Full article
(This article belongs to the Special Issue Genes and Human Diseases 2.0)
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