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Role of Mutations and Polymorphisms in Various Diseases

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 June 2024 | Viewed by 830

Special Issue Editors

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Guest Editor
Department of Biology and Biotechnology, University of Warmia and Mazury, 10-719 Olsztyn, Poland
Interests: biochemistry; nutrigenimics; healthcare; food proteins; allergy and hypersensitivity; in vitro cell culture
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Special Issue Information

Dear Colleagues,

Genetic polymorphisms and mutations can affect gene expression, modify the quantity and quality of the encoded product (protein), and significantly alter the metabolic pathway and its control, thus causing changes in the functioning of metabolic pathways. In this way, some changes in the genome are involved in not only the initiation but also the progression/regression of diseases.

In this Special Issue of International Journal of Molecular Sciences, we focus our attention on the latest discoveries and developments in correlations between genetic mutations, their relation with diseases in animals and human studies, and their possible underlying mechanisms. We also will study metabolic pathways that are considered to have an impact on the development of diseases, as well as genes and polymorphisms involved in the process.

We will provide a comprehensive update on the literature that is accessible to scientists from the field. Thus, we wish to invite investigators from basic, genetic, pathophysiological, nutritional, and metabolism research backgrounds or closely related disciplines to contribute original articles, reviews, communications, and conceptual papers.

Dr. Anna Cieślińska
Dr. Ewa Fiedorowicz
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 Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.


  • nutrigenomics
  • polymorphism
  • SNPs
  • mutations
  • predisposition
  • correlation
  • diversity
  • deletion
  • insertion

Published Papers (1 paper)

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9 pages, 531 KiB  
Is a Vitamin K Epoxide Reductase Complex Subunit 1 (VKORC1) Polymorphism a Risk Factor for Nephrolithiasis in Sarcoidosis?
by Marjolein Drent, Petal Wijnen, Otto Bekers and Aalt Bast
Int. J. Mol. Sci. 2024, 25(8), 4448; https://doi.org/10.3390/ijms25084448 - 18 Apr 2024
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Sarcoidosis is a systemic inflammatory disorder characterized by granuloma formation in various organs. It has been associated with nephrolithiasis. The vitamin K epoxide reductase complex subunit 1 (VKORC1) gene, which plays a crucial role in vitamin K metabolism, has been implicated [...] Read more.
Sarcoidosis is a systemic inflammatory disorder characterized by granuloma formation in various organs. It has been associated with nephrolithiasis. The vitamin K epoxide reductase complex subunit 1 (VKORC1) gene, which plays a crucial role in vitamin K metabolism, has been implicated in the activation of proteins associated with calcification, including in the forming of nephrolithiasis. This study aimed to investigate the VKORC1 C1173T polymorphism (rs9934438) in a Dutch sarcoidosis cohort, comparing individuals with and without a history of nephrolithiasis. Retrospectively, 424 patients with sarcoidosis were divided into three groups: those with a history of nephrolithiasis (Group I: n = 23), those with hypercalcemia without nephrolithiasis (Group II: n = 38), and those without nephrolithiasis or hypercalcemia (Group III: n = 363). Of the 424 sarcoidosis patients studied, 5.4% had a history of nephrolithiasis (Group I), only two of whom possessed no VKORC1 polymorphisms (OR = 7.73; 95% CI 1.79–33.4; p = 0.001). The presence of a VKORC1 C1173T variant allele was found to be a substantial risk factor for the development of nephrolithiasis in sarcoidosis patients. This study provides novel insights into the genetic basis of nephrolithiasis in sarcoidosis patients, identifying VKORC1 C1173T as a potential contributor. Further research is warranted to elucidate the precise mechanisms and explore potential therapeutic interventions based on these genetic findings. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases)
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