Special Issue "Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine"

A special issue of Journal of Personalized Medicine (ISSN 2075-4426).

Deadline for manuscript submissions: closed (10 December 2020).

Special Issue Editors

Prof. Dr. Mikhail Ivanovich Voevoda
E-Mail
Guest Editor
Department of Human Molecular Genetics, The Federal Research Center Institute of Cytology and Genetics, The Siberian Branch, The Russian Academy of Sciences, Novosibirsk, Russia
Interests: basic problems of internal diseases and in particular studies on the role of hereditary factors in endocrine disorders, as well as the development and improvement of molecular genetic research methods
Prof. Dr. Yuliya I. Ragino
E-Mail Website
Guest Editor
Institute of Internal and Preventive Medicine–Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 630089 Novosibirsk, Russia
Interests: Key biochemical markers and the pathogenesis of metabolic syndrome and of obesity
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

You are invited to take part in the all-Russian conference with international participation “Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine,” which will be held in Novosibirsk, 26–27 November 2020. The purpose of this conference is to disseminate the latest basic and clinical findings in the fields of etiology, clinical characteristics, and modern diagnostics and treatments of endocrine disorders among a wide spectrum of specialists. The conference is intended for physician–endocrinologists, primary care physicians, medical geneticists, pediatric endocrinologists, pediatricians, and physician–scientists. The conference will include plenary sessions, specialty sessions, satellite symposia, and an open competition for young scientists.

Main topics:

  • Epidemiology and pathogenesis of endocrine disorders;
  • Genomic research in endocrinology;
  • Biochemical characteristics of endocrine aberrations;
  • Immunology and immunogenetics in endocrinology;
  • Cellular technologies in endocrinology;
  • Metabolomic research in endocrinology;
  • Pharmacogenetics;
  • Basic pathomorphology;
  • High-tech care of patients with endocrine disorders;
  • Iodine-deficiency–related, autoimmune, and oncological diseases of the thyroid;
  • Modern diagnostic and therapeutic strategies for diabetes mellitus;
  • Osteoporosis and osteopenias;
  • Polyendocrinopathies;
  • An interdisciplinary approach to the diagnosis and treatment of obesity and metabolic syndrome;
  • Hypo- and hyperparathyroidism, vitamin D;
  • Neuroendocrine disorders;
  • Reproductive health;
  • Rehabilitation of patients with endocrine disorders;
  • Health resort and spa treatments of endocrine disorders and comorbid conditions.

The present Special Issue will feature the works presented at the conference that promote linkage of personalized medicine. Researchers and academicians are cordially invited to contribute original research papers or reviews in all aspects of precision medicine and personalized therapies to this Special Issue of Journal of Precision Medicine. Both full papers and review articles are very welcome.

Prof. Dr. Mikhail Ivanovich Voevoda
Prof. Dr. Yuliya I. Ragino
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • endocrine disorders
  • endocrinology
  • endocrine aberrations
  • pharmacogenetics
  • pathomorphology
  • iodine-deficiency–related, autoimmune, and oncological diseases of the thyroid

Published Papers (11 papers)

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Research

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Article
A Prospective Study: Highlights of Hippocampal Spectroscopy in Cognitive Impairment in Patients with Type 1 and Type 2 Diabetes
J. Pers. Med. 2021, 11(2), 148; https://doi.org/10.3390/jpm11020148 - 19 Feb 2021
Cited by 1 | Viewed by 691
Abstract
Diabetes mellitus type 1 and 2 is associated with cognitive impairment. Previous studies have reported a relationship between changes in cerebral metabolite levels and the variability of glycemia. However, the specific risk factors that affect the metabolic changes associated with type 1 and [...] Read more.
Diabetes mellitus type 1 and 2 is associated with cognitive impairment. Previous studies have reported a relationship between changes in cerebral metabolite levels and the variability of glycemia. However, the specific risk factors that affect the metabolic changes associated with type 1 and type 2 diabetes in cognitive dysfunction remain uncertain. The aim of the study was to evaluate the specificity of hippocampal spectroscopy in type 1 and type 2 diabetes and cognitive dysfunction. Materials and methods: 65 patients with type 1 diabetes with cognitive deficits and 20 patients without, 75 patients with type 2 diabetes with cognitive deficits and 20 patients without have participated in the study. The general clinical analysis and evaluation of risk factors of cognitive impairment were carried out. Neuropsychological testing included the Montreal Scale of Cognitive Dysfunction Assessment (MoCA test). Magnetic resonance spectroscopy (MRS) was performed in the hippocampal area, with the assessment of N-acetylaspartate (NAA), choline (Cho), creatine (Cr), and phosphocreatine (PCr) levels. Statistical processing was performed using the commercially available IBM SPSS software. Results: Changes in the content of NAA, choline Cho, phosphocreatine Cr2 and their ratios were observed in type 1 diabetes. More pronounced changes in hippocampal metabolism were observed in type 2 diabetes for all of the studied metabolites. Primary risk factors of neurometabolic changes in patients with type 1 diabetes were episodes of severe hypoglycemia in the history of the disease, diabetic ketoacidosis (DKA), chronic hyperglycemia, and increased body mass index (BMI). In type 2 diabetes, arterial hypertension (AH), BMI, and patient’s age are of greater importance, while the level of glycated hemoglobin (HbA1c), duration of the disease, level of education and insulin therapy are of lesser importance. Conclusion: Patients with diabetes have altered hippocampal metabolism, which may serve as an early predictive marker. The main modifiable factors have been identified, correction of which may slow down the progression of cognitive dysfunction. Full article
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Article
The Risk of Type 2 Diabetes Mellitus in a Russian Population Cohort According to Data from the HAPIEE Project
J. Pers. Med. 2021, 11(2), 119; https://doi.org/10.3390/jpm11020119 - 11 Feb 2021
Cited by 2 | Viewed by 578
Abstract
The aim of this study is to investigate the 14-year risk of type 2 diabetes mellitus (T2DM) and develop a risk score for T2DM in the Siberian cohort. A random population sample (males/females, 45–69 years old) was examined at baseline in 2003–2005 (Health, [...] Read more.
The aim of this study is to investigate the 14-year risk of type 2 diabetes mellitus (T2DM) and develop a risk score for T2DM in the Siberian cohort. A random population sample (males/females, 45–69 years old) was examined at baseline in 2003–2005 (Health, Alcohol, and Psychosocial Factors in Eastern Europe (HAPIEE) project, n = 9360, Novosibirsk) and re-examined in 2006–2008 and 2015–2017. After excluding those with baseline T2DM, the final analysis included 7739 participants. The risk of incident T2DM during a 14-year follow-up was analysed using Cox regression. In age-adjusted models, male and female hazard ratios (HR) of incident T2DM were 5.02 (95% CI 3.62; 6.96) and 5.13 (95% CI 3.56; 7.37) for BMI ≥ 25 kg/m2; 4.38 (3.37; 5.69) and 4.70 (0.27; 6.75) for abdominal obesity (AO); 3.31 (2.65; 4.14) and 3.61 (3.06; 4.27) for fasting hyperglycaemia (FHG); 2.34 (1.58; 3.49) and 3.27 (2.50; 4.26) for high triglyceride (TG); 2.25 (1.74; 2.91) and 2.82 (2.27; 3.49) for hypertension (HT); and 1.57 (1.14; 2.16) and 1.69 (1.38; 2.07) for family history of diabetes mellitus (DM). In addition, secondary education, low physical activity (PA), and history of cardiovascular disease (CVD) were also significantly associated with T2DM in females. A simple T2DM risk calculator was generated based on non-laboratory parameters. A scale with the best quality included waist circumference >95 cm, HT history, and family history of T2DM (area under the curve (AUC) = 0.71). The proposed 10-year risk score of T2DM represents a simple, non-invasive, and reliable tool for identifying individuals at a high risk of future T2DM. Full article
Article
Hypothalamic Norepinephrine Concentration and Heart Mass in Hypertensive ISIAH Rats Are Associated with a Genetic Locus on Chromosome 18
J. Pers. Med. 2021, 11(2), 67; https://doi.org/10.3390/jpm11020067 - 23 Jan 2021
Cited by 1 | Viewed by 521
Abstract
The relationship between activation of the sympathetic nervous system and cardiac hypertrophy has long been known. However, the molecular genetic basis of this association is poorly understood. Given the known role of hypothalamic norepinephrine in the activation of the sympathetic nervous system, the [...] Read more.
The relationship between activation of the sympathetic nervous system and cardiac hypertrophy has long been known. However, the molecular genetic basis of this association is poorly understood. Given the known role of hypothalamic norepinephrine in the activation of the sympathetic nervous system, the aim of the work was to carry out genetic mapping using Quantitative Trait Loci (QTL) analysis and determine the loci associated both with an increase in the concentration of norepinephrine in the hypothalamus and with an increase in heart mass in Inherited Stress-Induced Arterial Hypertension (ISIAH) rats simulating the stress-sensitive form of arterial hypertension. The work describes a genetic locus on chromosome 18, in which there are genes that control the development of cardiac hypertrophy associated with an increase in the concentration of norepinephrine in the hypothalamus, i.e., genes involved in enhanced sympathetic myocardial stimulation. No association of this locus with the blood pressure was found. Taking into consideration previously obtained results, it was concluded that the contribution to the development of heart hypertrophy in the ISIAH rats is controlled by different genetic loci, one of which is associated with the concentration of norepinephrine in the hypothalamus (on chromosome 18) and the other is associated with high blood pressure (on chromosome 1). Nucleotide substitutions that may be involved in the formation or absence of association with blood pressure in different rat strains are discussed. Full article
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Article
Does Proteomic Mirror Reflect Clinical Characteristics of Obesity?
J. Pers. Med. 2021, 11(2), 64; https://doi.org/10.3390/jpm11020064 - 21 Jan 2021
Cited by 1 | Viewed by 566
Abstract
Obesity is a frightening chronic disease, which has tripled since 1975. It is not expected to slow down staying one of the leading cases of preventable death and resulting in an increased clinical and economic burden. Poor lifestyle choices and excessive intake of [...] Read more.
Obesity is a frightening chronic disease, which has tripled since 1975. It is not expected to slow down staying one of the leading cases of preventable death and resulting in an increased clinical and economic burden. Poor lifestyle choices and excessive intake of “cheap calories” are major contributors to obesity, triggering type 2 diabetes, cardiovascular diseases, and other comorbidities. Understanding the molecular mechanisms responsible for development of obesity is essential as it might result in the introducing of anti-obesity targets and early-stage obesity biomarkers, allowing the distinction between metabolic syndromes. The complex nature of this disease, coupled with the phenomenon of metabolically healthy obesity, inspired us to perform data-centric, hypothesis-generating pilot research, aimed to find correlations between parameters of classic clinical blood tests and proteomic profiles of 104 lean and obese subjects. As the result, we assembled patterns of proteins, which presence or absence allows predicting the weight of the patient fairly well. We believe that such proteomic patterns with high prediction power should facilitate the translation of potential candidates into biomarkers of clinical use for early-stage stratification of obesity therapy. Full article
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Article
The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients
J. Pers. Med. 2021, 11(1), 57; https://doi.org/10.3390/jpm11010057 - 18 Jan 2021
Cited by 2 | Viewed by 830
Abstract
Maturity onset diabetes of the young (MODY) is a congenital form of diabetes characterized by onset at a young age and a primary defect in pancreatic-β-cell function. Currently, 14 subtypes of MODY are known, and each is associated with mutations in a specific [...] Read more.
Maturity onset diabetes of the young (MODY) is a congenital form of diabetes characterized by onset at a young age and a primary defect in pancreatic-β-cell function. Currently, 14 subtypes of MODY are known, and each is associated with mutations in a specific gene: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, KCNJ11, ABCC8, and APPL1. The most common subtypes of MODY are associated with mutations in the genes GCK, HNF1A, HNF4A, and HNF1B. Among them, up to 70% of cases are caused by mutations in GCK and HNF1A. Here, an analysis of 14 MODY genes was performed in 178 patients with a MODY phenotype in Western Siberia. Multiplex ligation-dependent probe amplification analysis of DNA samples from 50 randomly selected patients without detectable mutations did not reveal large rearrangements in the MODY genes. In 38 patients (37% males) among the 178 subjects, mutations were identified in HNF4A, GCK, HNF1A, and ABCC8. We identified novel potentially causative mutations p.Lys142*, Leu146Val, Ala173Glnfs*30, Val181Asp, Gly261Ala, IVS7 c.864 −1G>T, Cys371*, and Glu443Lys in GCK and Ser6Arg, IVS 2 c.526 +1 G>T, IVS3 c.713 +2 T>A, and Arg238Lys in HNF1A. Full article
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Article
Analysis of APPL1 Gene Polymorphisms in Patients with a Phenotype of Maturity Onset Diabetes of the Young
J. Pers. Med. 2020, 10(3), 100; https://doi.org/10.3390/jpm10030100 - 25 Aug 2020
Cited by 4 | Viewed by 1370
Abstract
The APPL1 gene encodes a protein mediating the cross-talk between adiponectin and insulin signaling. Recently, it was found that APPL1 mutations can cause maturity onset diabetes of the young, type 14. Here, an analysis of APPL1 was performed in patients with a maturity-onset [...] Read more.
The APPL1 gene encodes a protein mediating the cross-talk between adiponectin and insulin signaling. Recently, it was found that APPL1 mutations can cause maturity onset diabetes of the young, type 14. Here, an analysis of APPL1 was performed in patients with a maturity-onset diabetes of the young (MODY) phenotype, and prevalence of these mutations was estimated in a Russian population, among type 2 diabetes mellitus (T2DM) and MODY patients. Whole-exome sequencing or targeted sequencing was performed on 151 probands with a MODY phenotype, with subsequent association analysis of one of identified variants, rs11544593, in a white population of Western Siberia (276 control subjects and 169 T2DM patients). Thirteen variants were found in APPL1, three of which (rs79282761, rs138485817, and rs11544593) are located in exons. There were no statistically significant differences in the frequencies of rs11544593 alleles and genotypes between T2DM patients and the general population. In the MODY group, AG rs11544593 genotype carriers were significantly more frequent (AG vs. AA + GG: odds ratio 1.83, confidence interval 1.15–2.90, p = 0.011) compared with the control group. An association of rs11544593 with blood glucose concentration was revealed in the MODY group. The genotyping data suggest that rs11544593 may contribute to carbohydrate metabolism disturbances. Full article
Article
The Blood Cytokine Profile of Young People with Early Ischemic Heart Disease Comorbid with Abdominal Obesity
J. Pers. Med. 2020, 10(3), 87; https://doi.org/10.3390/jpm10030087 - 13 Aug 2020
Cited by 2 | Viewed by 1169
Abstract
Objective: The aim was to study the blood cytokine/chemokine profile of 25–44-year-old people with early ischemic heart disease (IHD) comorbid with abdominal obesity (AO). Methods: A cross-sectional medical examination of subjects in Novosibirsk, Russia, was conducted after random sampling of the above age [...] Read more.
Objective: The aim was to study the blood cytokine/chemokine profile of 25–44-year-old people with early ischemic heart disease (IHD) comorbid with abdominal obesity (AO). Methods: A cross-sectional medical examination of subjects in Novosibirsk, Russia, was conducted after random sampling of the above age group. A total of 1457 subjects, 804 females and 653 males, were analyzed. The epidemiological diagnosis of IHD was made in accordance with 17 validated and functional criteria, employing exercise ECG for confirmation. Simultaneous quantitative analyses of 41 cytokines/chemokines in blood serum were performed by a multiplex assay using the HCYTMAG-60K-PX41 panel (MILLIPLEX MAP) on a Luminex 20 MAGPIX flow cytometer, with additional ELISA testing. Results: Flt3 ligand, GM-CSF, and MCP-1 were significantly associated with the relative risk of early IHD. In the presence of AO, GM-CSF, MCP-1 and IL-4 also significantly correlated with the relative risk of early IHD. By univariate regression analysis, the relative risk of early IHD was associated with lowered blood concentrations of Flt3 ligand, whereas the relative risk of early IHD in the presence of AO was associated with lowered blood concentrations of GM-CSF. Employing multivariable regression analysis, only lower blood levels of Flt3 ligand were associated with a relative risk of early IHD, whereas the relative risk of early IHD in the presence of AO was limited to lower levels of IL-4. Conclusion: Findings related to Flt3 ligand, GM-CSF, and IL-4 are consistent with the international literature. Results from the present study are partly confirmative and partly hypothesis generating. Full article
Article
The Risk of Osteoporotic Forearm Fractures in Postmenopausal Women in a Siberian Population Sample
J. Pers. Med. 2020, 10(3), 77; https://doi.org/10.3390/jpm10030077 - 31 Jul 2020
Cited by 2 | Viewed by 1523
Abstract
The reduction in bone and muscle mass increases in menopausal women and poses a threat to the loss of self-dependence in the elderly. The aim of the study was to assess the frequency of osteoporotic forearm fractures (OFF) in postmenopausal women [...] Read more.
The reduction in bone and muscle mass increases in menopausal women and poses a threat to the loss of self-dependence in the elderly. The aim of the study was to assess the frequency of osteoporotic forearm fractures (OFF) in postmenopausal women and to study their association with risk factors for chronic non-communicable diseases (NCD). The study was based on the Russian arm of the Health, Alcohol and Psychosocial Factors In Eastern Europe (HAPIEE) project (Novosibirsk). In a subsample of postmenopausal women aged 55–84 years old (n = 2005), we assessed the history of OFF during the last 3 years and risk factors for fracture and common NCD/. Cross-sectional associations between OFF history and potential determinants were analyzed using multivariable-adjusted logistic regression. A history of OFF in the last 3 years was found in 3.9% women. In a multivariable-adjusted model, the risk of OFF was directly associated with smoking in the past (OR = 2.23; 95% Cl 1.10–4.55), total cholesterol level higher than 200 mg/dL (OR = 1.98; 95% Cl 1.19–3.29), and it was inversely associated with body mass index (OR = 0.91; 95% Cl 0.86–0.96). In studied population sample of postmenopausal women the cross-sectional determinants of osteoporotic forearm fractures were smoking in the past and high total cholesterol value; body mass index protectively related to the risk of osteoporotic fractures. These findings might have implications for fracture prevention in postmenopausal women. Full article
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Article
Correlations between Iron Metabolism Parameters, Inflammatory Markers and Lipid Profile Indicators in Patients with Type 1 and Type 2 Diabetes Mellitus
J. Pers. Med. 2020, 10(3), 70; https://doi.org/10.3390/jpm10030070 - 25 Jul 2020
Cited by 3 | Viewed by 1421
Abstract
This study aims to establish relationships between inflammatory status, ferrokinetics and lipid metabolism in patients with diabetes mellitus. Subclinical inflammation was assessed by levels of high-sensitive C-reactive protein, tumor necrosis factor-α and erythrocyte sedimentation rate. Iron metabolism parameters included complete blood count, serum [...] Read more.
This study aims to establish relationships between inflammatory status, ferrokinetics and lipid metabolism in patients with diabetes mellitus. Subclinical inflammation was assessed by levels of high-sensitive C-reactive protein, tumor necrosis factor-α and erythrocyte sedimentation rate. Iron metabolism parameters included complete blood count, serum iron, transferrin and ferritin. Metabolic status assessment included lipid profile, glycated hemoglobin and microalbuminuria measurement. As a result of the study it was possible to establish both general (universal) and diabetes mellitus (DM) type-dependent relationships between the parameters of lipid profile and metabolic control in DM. High-density lipoprotein cholesterol (HDL-C) levels negatively correlated with microalbuminuria (r = −0.293; p ˂ 0.05 for type 1 diabetes and r = −0.272; p ˂ 0.05 for type 2 diabetes). Ferritin concentration positively correlated with triglyceride level (r = 0.346; p ˂ 0.05 for type 1 diabetes and r = 0.244; p ˂ 0.05 for type 2 diabetes). In type 1 diabetes, a negative correlation was discovered between estimated glomerular filtration rate (eGFR) and LDL-C (r = −0.480; p ˂ 0.05), very low-density-lipoprotein cholesterol (VLDL-C) (r = −0.490; p ˂ 0.05) and triglycerides (r = −0.553; p ˂ 0.05), and a positive one between C-reactive protein concentration and triglyceride level (r = 0.567; p ˂ 0.05). Discovered relationships between lipid profile indices, inflammatory status and microalbuminuria confirmed mutual influence of hyperlipidemia, inflammation and nephropathy in diabetes patients. Obtained results justify the strategy of early hypolipidemic therapy in patients with diabetes mellitus to prevent the development and progression of microvascular complications. Full article
Article
Possible Differential Diagnosis of the Degrees of Rheological Disturbances in Patients with Type 2 Diabetes Mellitus by Dielectrophoresis of Erythrocytes
J. Pers. Med. 2020, 10(3), 60; https://doi.org/10.3390/jpm10030060 - 05 Jul 2020
Cited by 5 | Viewed by 1556
Abstract
Hemorheological disorders in structural and functional parameters of erythrocytes are involved in the pathological process in type 2 diabetes mellitus (DM). Aim: to investigate the feasibility of differential diagnosis of the degrees of rheological disturbances in patients with type 2 DM by dielectrophoresis [...] Read more.
Hemorheological disorders in structural and functional parameters of erythrocytes are involved in the pathological process in type 2 diabetes mellitus (DM). Aim: to investigate the feasibility of differential diagnosis of the degrees of rheological disturbances in patients with type 2 DM by dielectrophoresis of erythrocytes. Methods: 62 subjects (58.7 ± 1.6 years) with type 2 DM diagnosed according to the criteria of the ADA were subdivided into two groups: medium (n = 47) and high (n = 15) risk of microcirculatory disturbances (EASD, 2013). Electric and viscoelastic parameters of erythrocytes were determined by dielectrophoresis using an electric optical system of cell detection. Results: the progression of rheological disturbances in the patients with type 2 DM was accompanied by significant decreases in deformation amplitude; dipole moment; polarizability; and membrane capacity; and increases in conductivity, viscosity, rigidity, hemolysis, and formation of aggregates (p < 0.05). Combined use of the parameters increased sensitivity (97.8%) and specificity (86.7%) for diagnosis of rheological disturbances in type 2 DM. Conclusion: the proposed experimental approach possesses low invasiveness, high productivity, shorter duration, vividness of the results. The method allows to evaluate not only local (renal and ocular) but also systemic status of microcirculation using more than 20 parameters of erythrocytes. Full article
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Review

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Review
Gallstone Disease, Obesity and the Firmicutes/Bacteroidetes Ratio as a Possible Biomarker of Gut Dysbiosis
by
J. Pers. Med. 2021, 11(1), 13; https://doi.org/10.3390/jpm11010013 - 25 Dec 2020
Cited by 16 | Viewed by 2127
Abstract
Obesity is a major risk factor for developing gallstone disease (GSD). Previous studies have shown that obesity is associated with an elevated Firmicutes/Bacteroidetes ratio in the gut microbiota. These findings suggest that the development of GSD may be related to gut dysbiosis. This [...] Read more.
Obesity is a major risk factor for developing gallstone disease (GSD). Previous studies have shown that obesity is associated with an elevated Firmicutes/Bacteroidetes ratio in the gut microbiota. These findings suggest that the development of GSD may be related to gut dysbiosis. This review presents and summarizes the recent findings of studies on the gut microbiota in patients with GSD. Most of the studies on the gut microbiota in patients with GSD have shown a significant increase in the phyla Firmicutes (Lactobacillaceae family, genera Clostridium, Ruminococcus, Veillonella, Blautia, Dorea, Anaerostipes, and Oscillospira), Actinobacteria (Bifidobacterium genus), Proteobacteria, Bacteroidetes (genera Bacteroides, Prevotella, and Fusobacterium) and a significant decrease in the phyla Bacteroidetes (family Muribaculaceae, and genera Bacteroides, Prevotella, Alistipes, Paludibacter, Barnesiella), Firmicutes (genera Faecalibacterium, Eubacterium, Lachnospira, and Roseburia), Actinobacteria (Bifidobacterium genus), and Proteobacteria (Desulfovibrio genus). The influence of GSD on microbial diversity is not clear. Some studies report that GSD reduces microbial diversity in the bile, whereas others suggest the increase in microbial diversity in the bile of patients with GSD. The phyla Proteobacteria (especially family Enterobacteriaceae) and Firmicutes (Enterococcus genus) are most commonly detected in the bile of patients with GSD. On the other hand, the composition of bile microbiota in patients with GSD shows considerable inter-individual variability. The impact of GSD on the Firmicutes/Bacteroidetes ratio is unclear and reports are contradictory. For this reason, it should be stated that the results of reviewed studies do not allow for drawing unequivocal conclusions regarding the relationship between GSD and the Firmicutes/Bacteroidetes ratio in the microbiota. Full article
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