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Biochemical and Genetics Tools for Monitoring Health and Risk of Disease

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A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601).

Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 6666

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Special Issue Editors

Dr. Fernando Cardona

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Guest Editor

Instituto de Biomedicina de Valencia-CSIC, 46010 Valencia, Spain
Interests: genetics; molecular biology; biochemistry; neurodegenerative diseases
Special Issues, Collections and Topics in MDPI journals

Dr. Jordi Pérez-Tur

E-Mail Website
Co-Guest Editor

Instituto de Biomedicina de Valencia-CSIC, Unidad de Genética Molecular, 46010 Valencia, Spain
Interests: LRRK2 gene; Parkinson; PARK8-linked Parkinson's disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Biomarkers have long been used to monitor the health of people and animals. Among them, molecular and biochemical markers are especially useful in public health as they enable a quick overview of the state of an individual’s health. In addition, this type of monitoring is carried out using minimally invasive techniques, which is of great interest in regard to performing massive screening within populations.

Examples of frequently used biochemical markers are blood test parameters, which offer a global vision of the physiological state of an indivudual. These markers cover a wide range of organs and systems, as well as the pre-diagnosis of many diseases.

Genetic tests are an example of less widely used molecular markers, although lately, their use is beginning to become more generalized. Although at this time, these tests do not allow an overview of all the possible diseases that an individual may suffer, they have begun to be useful for the detection of some diseases. Some examples of how these markers are used include the determination of the genetic risk of developing some types of cancer, as well as metabolic or neurodegenerative diseases.

Furthermore, in many cases, these biomarkers enable the design of therapeutic interventions, including both pharmacological and lifestyle changes. An example of this is the recommendation of the use of statins or physical exercise to control cholesterol levels.

In this Special Issue, we invite researchers to present original articles and reviews related to the use of biomarkers in monitoring health statuses in the general population and in regard to different pathological conditions.

Dr. Fernando Cardona Serrate
Dr. Jordi Pérez-Tur
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 submissions that pass pre-check are 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. International Journal of Environmental Research and Public Health 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 2500 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

biochemistry
genetics
molecular biomarkers
Polygenic Risk Score (PRS)
genetic tests
health
risk of disease
biochemical parameters
genetic susceptibility
risk factors
genetic variation
genetic epidemiology
molecular intervention
lifestyle

Published Papers (3 papers)

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Research

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26 pages, 2528 KiB

Open AccessArticle

DNA-Methylation Signatures of Tobacco Smoking in a High Cardiovascular Risk Population: Modulation by the Mediterranean Diet

by Rebeca Fernández-Carrión, José V. Sorlí, Eva M. Asensio, Eva C. Pascual, Olga Portolés, Andrea Alvarez-Sala, Francesc Francès, Judith B. Ramírez-Sabio, Alejandro Pérez-Fidalgo, Laura V. Villamil, Francisco J. Tinahones, Ramon Estruch, Jose M. Ordovas, Oscar Coltell and Dolores Corella

Int. J. Environ. Res. Public Health 2023, 20(4), 3635; https://doi.org/10.3390/ijerph20043635 - 18 Feb 2023

Cited by 3 | Viewed by 2429

Abstract

Biomarkers based on DNA methylation are relevant in the field of environmental health for precision health. Although tobacco smoking is one of the factors with a strong and consistent impact on DNA methylation, there are very few studies analyzing its methylation signature in southern European populations and none examining its modulation by the Mediterranean diet at the epigenome-wide level. We examined blood methylation smoking signatures on the EPIC 850 K array in this population (n = 414 high cardiovascular risk subjects). Epigenome-wide methylation studies (EWASs) were performed analyzing differential methylation CpG sites by smoking status (never, former, and current smokers) and the modulation by adherence to a Mediterranean diet score was explored. Gene-set enrichment analysis was performed for biological and functional interpretation. The predictive value of the top differentially methylated CpGs was analyzed using receiver operative curves. We characterized the DNA methylation signature of smoking in this Mediterranean population by identifying 46 differentially methylated CpGs at the EWAS level in the whole population. The strongest association was observed at the cg21566642 (p = 2.2 × 10⁻³²) in the 2q37.1 region. We also detected other CpGs that have been consistently reported in prior research and discovered some novel differentially methylated CpG sites in subgroup analyses. In addition, we found distinct methylation profiles based on the adherence to the Mediterranean diet. Particularly, we obtained a significant interaction between smoking and diet modulating the cg5575921 methylation in the AHRR gene. In conclusion, we have characterized biomarkers of the methylation signature of tobacco smoking in this population, and suggest that the Mediterranean diet can increase methylation of certain hypomethylated sites. Full article

(This article belongs to the Special Issue Biochemical and Genetics Tools for Monitoring Health and Risk of Disease)

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9 pages, 1703 KiB

Open AccessArticle

Genetic Analysis Implicates Dysregulation of SHANK2 in Renal Cell Carcinoma Progression

by Chi-Fen Chang, Shu-Pin Huang, Yu-Mei Hsueh, Jiun-Hung Geng, Chao-Yuan Huang and Bo-Ying Bao

Int. J. Environ. Res. Public Health 2022, 19(19), 12471; https://doi.org/10.3390/ijerph191912471 - 30 Sep 2022

Cited by 1 | Viewed by 1159

Abstract

SH3 and multiple ankyrin repeat domains (SHANK) is a family of scaffold proteins that were first identified to be involved in balancing synaptic transmission via regulation of intracellular signalling crosstalk and have been linked to various cancers. However, the role of the SHANK genes in renal cell carcinoma (RCC) remains to be elucidated. In this study, we aimed to evaluate whether genetic variants in SHANK family genes affect the risk of RCC and survival of patients. A genetic association study was conducted using logistic regression and Cox regression analyses, followed by the correction for a false discovery rate (FDR), in 630 patients with RCC and controls. A pooled analysis was further performed to summarise the clinical relevance of SHANK gene expression in RCC. After adjustment for known risk factors and the FDR, the SHANK2 rs10792565 T allele was found to be associated with an increased risk of RCC (adjusted odds ratio = 1.79, 95% confidence interval = 1.32–2.44, p = 1.96 × 10⁻⁴, q = 0.030), whereas no significant association was found with RCC survival. A pooled analysis of 19 independent studies, comprising 1509 RCC and 414 adjacent normal tissues, showed that the expression of SHANK2 was significantly lower in RCC than in normal tissues (p < 0.001). Furthermore, low expression of SHANK2 was correlated with an advanced stage and poor prognosis for patients with clear cell and papillary RCC. This study suggests that SHANK2 rs10792565 is associated with an increased risk of RCC and that SHANK2 may play a role in RCC progression. Full article

(This article belongs to the Special Issue Biochemical and Genetics Tools for Monitoring Health and Risk of Disease)

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Other

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14 pages, 1117 KiB

Open AccessSystematic Review

Salivary Alterations in Autoimmune Thyroid Diseases: A Systematic Review

by Martyna Ortarzewska, Kacper Nijakowski, Julia Kolasińska, Dawid Gruszczyński, Marek A. Ruchała, Anna Lehmann and Anna Surdacka

Int. J. Environ. Res. Public Health 2023, 20(6), 4849; https://doi.org/10.3390/ijerph20064849 - 09 Mar 2023

Cited by 2 | Viewed by 2259

Abstract

Autoimmune thyroid disease (AITD) is a dysregulation of the immune system that causes an attack on the thyroid gland. Two major clinical manifestations are Hashimoto’s thyroiditis and Graves’ disease. Saliva performs many functions and, importantly, has the potential for easy, non-invasive diagnostics of several systemic disorders. This systematic review was designed to answer the question whether salivary alterations are reliable for the diagnosis of autoimmune thyroid diseases. Following the inclusion and exclusion criteria, fifteen studies were included. Due to their heterogeneity, saliva analysis was divided into two subgroups: quantitative assessment analysing salivation and qualitative assessment concerning potential salivary biomarkers for AITD. In addition to detecting altered levels of thyroid hormones and antibodies, salivary changes were also observed in the concentrations of total protein, cytokines and chemokines, as well as markers of oxidative status. According to the saliva flow rate values, significantly reduced saliva secretion was observed in patients with HT. In conclusion, it is not possible to unequivocally state if salivary biomarkers can potentially be used in autoimmune thyroid disease diagnosis. Therefore, further investigations, including salivation disorders, are necessary to validate these findings. Full article

(This article belongs to the Special Issue Biochemical and Genetics Tools for Monitoring Health and Risk of Disease)

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