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Role of Mutations and Polymorphisms in Various Diseases
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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: closed (30 June 2024) | Viewed by 8946

Special Issue Editors

Prof. Dr. Anna Cieslinska

E-Mail Website
Guest Editor
Department of Biology and Biotechnology, University of Warmia and Mazury, 10-719 Olsztyn, Poland
Interests: genetics; biochemistry; biotechnology; molecular biology; diets; SNPs; mutations; opioids; proteins
Special Issues, Collections and Topics in MDPI journals
Dr. Ewa Fiedorowicz

E-Mail Website
Guest Editor
Department of Biochemistry, Faculty of Biology and Biotechnology, University of Warmia and Mazury, Oczapowskiego 1A Street, 10-719 Olsztyn, Poland
Interests: molecular biology; biochemistry; food allergy; milk allergy; allergy; allergen; ELISA; serotonin; opioid peptides; cell culture; hypersensitivity; cytokines
Special Issues, Collections and Topics in MDPI journals

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

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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.

Keywords

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

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Published Papers (10 papers)

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Research

16 pages, 2541 KiB  
Article
Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity
by Nyamkhishig Sambuughin, Ognoon Mungunsukh, Michael G. Klein, Mingqiang Ren, Peter Bedocs, Josh B. Kazman, Kristen Cofer, Liam P. Friel, Beth McNally, Kyung Kwon, Mark C. Haigney, Jeffrey C. Leggit, Marzena Pazgier, Patricia A. Deuster and Francis G. O’Connor
Int. J. Mol. Sci. 2024, 25(20), 11269; https://doi.org/10.3390/ijms252011269 - 19 Oct 2024
Viewed by 762
Abstract
Environmental heat stress represents a pervasive threat to warfighters, athletes, and occupational workers, impacting performance and increasing the risk of injury. Exertional heat illness (EHI) is a spectrum of clinical disorders of increasing severity. While frequently predictable, EHI can occur unexpectedly and may [...] Read more.
Environmental heat stress represents a pervasive threat to warfighters, athletes, and occupational workers, impacting performance and increasing the risk of injury. Exertional heat illness (EHI) is a spectrum of clinical disorders of increasing severity. While frequently predictable, EHI can occur unexpectedly and may be followed by long-term comorbidities, including cardiovascular dysfunction and exercise intolerance. The objective of this study was to assess genetic factors contributing to EHI. Whole-exome sequencing was performed in a cohort of 53 cases diagnosed with EHI. Rare variants in prioritized gene sets were analyzed and classified per published guidelines. Clinically significant pathogenic and potentially pathogenic variants were identified in 30.2% of the study cohort. Variants were found in 14 genes, including the previously known RYR1 and ACADVL genes and 12 other genes (CAPN3, MYH7, PFKM, RYR2, TRPM4, and genes for mitochondrial disorders) reported here for the first time in EHI. Supporting structural and functional studies of the TRPM4 p.Arg905Trp variant show that it impairs the thermal sensitivity of the TRPM4 channel, revealing a potentially new molecular mechanism contributing to EHI susceptibility. Our study demonstrates associations between EHI and genes implicated in muscle disorders, cardiomyopathies, thermoregulation, and oxidative phosphorylation deficiencies. These results expand the genetic heterogeneity of EHI and shed light on its molecular pathogenesis. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases)
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10 pages, 266 KiB  
Communication
Association of the rs9896052 Polymorphism Upstream of GRB2 with Proliferative Diabetic Retinopathy in Patients with Less than 10 Years of Diabetes
by Caroline Moura Cardoso Bastos, Lucas Marcelo da Silva Machado, Daisy Crispim, Luís Henrique Canani and Kátia Gonçalves dos Santos
Int. J. Mol. Sci. 2024, 25(19), 10232; https://doi.org/10.3390/ijms251910232 - 24 Sep 2024
Viewed by 650
Abstract
Growth factor receptor-bound protein 2 (GRB2) is a negative regulator of insulin signaling and a positive regulator of angiogenesis. Its expression is increased in a mouse model of retinal neovascularization and in patients with type 2 diabetes mellitus (T2DM). This case–control study aimed [...] Read more.
Growth factor receptor-bound protein 2 (GRB2) is a negative regulator of insulin signaling and a positive regulator of angiogenesis. Its expression is increased in a mouse model of retinal neovascularization and in patients with type 2 diabetes mellitus (T2DM). This case–control study aimed to investigate the association between the rs9896052 polymorphism (A>C) upstream of GRB2 and proliferative diabetic retinopathy (PDR) in patients with T2DM from Southern Brazil, taking into consideration self-reported skin color (white or non-white) and the known duration of diabetes (<10 years or ≥10 years). Genotypes were determined by real-time PCR in 838 patients with T2DM (284 cases with PDR and 554 controls without DR). In the total study group and in the analysis stratified by skin color, the genotype and allele frequencies were similar between cases and controls. However, among patients with less than 10 years of diabetes, the C allele was more frequent in cases than in controls (63.3% versus 51.8%, p = 0.032), and the CC genotype was independently associated with an increased risk of PDR (adjusted OR = 2.82, 95% CI 1.17–6.75). In conclusion, our findings support the hypothesis that the rs9896052 polymorphism near GRB2 is associated with PDR in Brazilian patients with T2DM. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases)
11 pages, 2383 KiB  
Communication
Autoimmunity-Associated SNP rs3024505 Disrupts STAT3 Binding in B Cells, Leading to IL10 Dysregulation
by Aksinya N. Uvarova, Elina A. Zheremyan, Alina S. Ustiugova, Matvey M. Murashko, Elvina A. Bogomolova, Denis E. Demin, Ekaterina M. Stasevich, Dmitry V. Kuprash and Kirill V. Korneev
Int. J. Mol. Sci. 2024, 25(18), 10196; https://doi.org/10.3390/ijms251810196 - 23 Sep 2024
Viewed by 642
Abstract
Interleukin 10 (IL10) is a major anti-inflammatory cytokine that acts as a master regulator of the immune response. A single nucleotide polymorphism rs3024505(C/T), located downstream of the IL10 gene, is associated with several aggressive inflammatory diseases, including systemic lupus erythematosus, Sjögren’s syndrome, Crohn’s [...] Read more.
Interleukin 10 (IL10) is a major anti-inflammatory cytokine that acts as a master regulator of the immune response. A single nucleotide polymorphism rs3024505(C/T), located downstream of the IL10 gene, is associated with several aggressive inflammatory diseases, including systemic lupus erythematosus, Sjögren’s syndrome, Crohn’s disease, and ulcerative colitis. In such autoimmune pathologies, IL10-producing B cells play a protective role by decreasing the level of inflammation and restoring immune homeostasis. This study demonstrates that rs3024505 is located within an enhancer that augments the activity of the IL10 promoter in a reporter system based on a human B cell line. The common rs3024505(C) variant creates a functional binding site for the transcription factor STAT3, whereas the risk allele rs3024505(T) disrupts STAT3 binding, thereby reducing the IL10 promoter activity. Our findings indicate that B cells from individuals carrying the minor rs3024505(T) allele may produce less IL10 due to the disrupted STAT3 binding site, contributing to the progression of inflammatory pathologies. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases)
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11 pages, 1013 KiB  
Communication
The VEGFA rs3025039 Variant Is a Risk Factor for Breast Cancer in Mexican Women
by Bricia M. Gutiérrez-Zepeda, Mariana M. Gómez-Del Toro, Diego J. Ortiz-Soto, Denisse S. Becerra-Loaiza, Angel F. Quiroz-Bolaños, Antonio Topete, Ramón A. Franco-Topete, Adrián Daneri-Navarro, Alicia Del Toro-Arreola and Antonio Quintero-Ramos
Int. J. Mol. Sci. 2024, 25(18), 10172; https://doi.org/10.3390/ijms251810172 - 22 Sep 2024
Viewed by 664
Abstract
Breast cancer (BC) is the leading cause of death from tumors in women worldwide, influenced by various factors, including genetics. The T allele of the single nucleotide variant (SNV) rs3025039 at position +936 of the VEGFA gene has been reported to affect the [...] Read more.
Breast cancer (BC) is the leading cause of death from tumors in women worldwide, influenced by various factors, including genetics. The T allele of the single nucleotide variant (SNV) rs3025039 at position +936 of the VEGFA gene has been reported to affect the mRNA regulatory mechanisms, potentially altering VEGFA expression and increasing BC risk. This study aimed to investigate the association between rs3025039 and BC in Mexican women residing in Jalisco, Mexico. The study included 231 women with a confirmed diagnosis of BC and 201 healthy subjects as a reference group (RG). PCR–RFLP was employed for the genotyping of rs3025039, with the visualization of amplified products using polyacrylamide gel electrophoresis. Significant differences were observed in rs3025039 alleles and genotypes between BC cases and the RG (p = 0.0038). The frequency of the T allele and the CT genotype was higher in the BC group compared to the RG, with a significant difference (p = 0.0006). In conclusion, this research suggests that the SNV rs3025039 is associated with a higher risk of BC in Mexican women. These findings enhance our understanding of the genetic underpinnings of BC in this population, offering potential insights for future studies and interventions. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases)
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20 pages, 1591 KiB  
Article
Association of IL-17A and IL-10 Polymorphisms with Juvenile Idiopathic Arthritis in Finnish Children
by Milja Möttönen, Johanna Teräsjärvi, Heidi Rahikkala, Sonja Kvist, Jussi Mertsola and Qiushui He
Int. J. Mol. Sci. 2024, 25(15), 8323; https://doi.org/10.3390/ijms25158323 - 30 Jul 2024
Viewed by 713
Abstract
To analyze the role of interleukin IL-17A and IL-10 polymorphisms in susceptibility to juvenile idiopathic arthritis (JIA), 98 Finnish children and adolescents with JIA were studied. Data from the 1000 Genomes Project, consisting of 99 healthy Finns, served as the controls. The patients [...] Read more.
To analyze the role of interleukin IL-17A and IL-10 polymorphisms in susceptibility to juvenile idiopathic arthritis (JIA), 98 Finnish children and adolescents with JIA were studied. Data from the 1000 Genomes Project, consisting of 99 healthy Finns, served as the controls. The patients were analyzed for four IL-17A and three IL-10 gene-promoter polymorphisms, and the serum IL-17A, IL-17F, IL-10, and IL-6 levels were determined. The IL-17A rs8193036 variant genotypes (CT/CC) were more common among the patients than controls, especially in those with polyarthritis (OR 1.93, 95% CI 1.11–3.36; p = 0.020). IL-17A rs2275913 minor allele A was more common in patients (OR 1.45, 95% Cl 1.08–1.94; p = 0.014) and especially among patients with oligoarthritis and polyarthritis than the controls (OR 1.61, 95%CI 1.06–2.43; p = 0.024). Carriers of the IL-17A rs4711998 variant genotype (AG/AA) had higher serum IL-17A levels than those with genotype GG. However, carriers of the variant genotypes of IL-17A rs9395767 and rs4711998 appeared to have higher IL-17F levels than those carrying wildtype. IL-10 rs1800896 variant genotypes (TC/CC) were more abundant in patients than in the controls (OR 1.97, 95%CI 1.06–3.70; p = 0.042). Carriers of the IL-10 rs1800896 variant genotypes had lower serum levels of IL-17F than those with wildtype. These data provide preliminary evidence of the roles of IL-17 and IL-10 in the pathogenesis of JIA and its subtypes in the Finnish population. However, the results should be interpreted with caution, as the number of subjects included in this study was limited. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases)
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18 pages, 4658 KiB  
Article
VDR Gene Polymorphisms (BsmI, FokI, TaqI, ApaI) in Total Hip Arthroplasty Outcome Patients
by Dominika Rozmus, Ewa Fiedorowicz, Roman Grzybowski, Janusz Płomiński and Anna Cieślińska
Int. J. Mol. Sci. 2024, 25(15), 8225; https://doi.org/10.3390/ijms25158225 - 27 Jul 2024
Viewed by 1003
Abstract
A total hip arthroplasty (THA) can improve quality of life, but loosening of the hip prosthesis is a complex problem in which vitamin D may also play a role. The Vitamin D Receptor (VDR) is involved in the response of cells to the [...] Read more.
A total hip arthroplasty (THA) can improve quality of life, but loosening of the hip prosthesis is a complex problem in which vitamin D may also play a role. The Vitamin D Receptor (VDR) is involved in the response of cells to the action of vitamin D, and its genetic variability raises the question of whether individual differences could influence the risk of prosthesis loosening. The aim of this study was to investigate the relationship between VDR single nucleotide polymorphisms (SNPs) (ApaI, BsmI, FokI and TaqI) and the serum VDR and 25(OH)D levels in three groups of patients: (1) arthroscopy patients after THA without loosening of the prosthesis (CA—Control Arthroplasty), (2) patients after THA with loosened hip prostheses (L—Loosening) and (3) the control group (C—Control). Our results suggest that the genotypes tt of TaqI, BB of BsmI, and FF of FokI may influence the VDR effect in patients with loosened protheses. Our results showed that the ACAC haplotype (AtBF) was over two times more frequent in the L group than in CA + C: OR =2.35 [95% CI 1.44–3.83; p = 0.001]. There was no significant correlation between the VDR and serum 25(OH)D levels, but there were differences between studied groups. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases)
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15 pages, 649 KiB  
Article
Effect of HVEM/CD160 Variations on the Clear Cell Renal Carcinoma Risk and Overall Survival
by Anna Andrzejczak, Bartosz Małkiewicz, Krzysztof Tupikowski, Kuba Ptaszkowski, Tomasz Szydełko and Lidia Karabon
Int. J. Mol. Sci. 2024, 25(13), 6860; https://doi.org/10.3390/ijms25136860 - 22 Jun 2024
Viewed by 932
Abstract
Renal cell carcinoma (RCC) accounts for approximately 90–95% of all kidney cancers in adults, with clear cell RCC (ccRCC) being the most frequently identified subtype. RCC is known for its responsiveness to immunotherapy, making it an area of significant research interest. Immune checkpoint [...] Read more.
Renal cell carcinoma (RCC) accounts for approximately 90–95% of all kidney cancers in adults, with clear cell RCC (ccRCC) being the most frequently identified subtype. RCC is known for its responsiveness to immunotherapy, making it an area of significant research interest. Immune checkpoint (IC) molecules, which regulate immune surveillance, are established therapeutic targets in RCC. The aim of this study was to analyze the influence of HVEM and CD160 gene polymorphisms on ccRCC susceptibility and patient overall survival (OS) over a ten-year period of observation. We genotyped three HVEM single nucleotide polymorphisms (SNPs): rs1886730, rs2234167, and rs8725, as well as two CD160 SNPs: rs744877 and rs2231375, in 238 ccRCC patients and 521 controls. Our findings indicated that heterozygosity within rs2231375 and/or rs2234167 increases ccRCC risk. Furthermore, in women, heterozygosity within HVEM SNPs rs8725 and rs1886730 is also associated with an increased ccRCC risk. The presence of a minor allele for rs1886730, rs2234167, rs8725, and rs2231375 was also correlated with certain clinical features of ccRCC. Moreover, rs1886730 was found to be associated with OS. In conclusion, our study highlights an association between HVEM and CD160 polymorphisms and the risk of developing ccRCC as well as OS. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases)
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20 pages, 1913 KiB  
Article
Genome-Wide Association Study Reveals Quantitative Trait Loci and Candidate Genes Associated with High Interferon-gamma Production in Holstein Cattle Naturally Infected with Mycobacterium Bovis
by Gerard Badia-Bringué, María Canive, Patricia Vázquez, Joseba M. Garrido, Almudena Fernández, Ramón A. Juste, José Antonio Jiménez, Oscar González-Recio and Marta Alonso-Hearn
Int. J. Mol. Sci. 2024, 25(11), 6165; https://doi.org/10.3390/ijms25116165 - 3 Jun 2024
Viewed by 756
Abstract
Mycobacterium bovis (Mb) is the causative agent of bovine tuberculosis (bTb). Genetic selection aiming to identify less susceptible animals has been proposed as a complementary measure in ongoing programs toward controlling Mb infection. However, individual animal phenotypes for bTb based on [...] Read more.
Mycobacterium bovis (Mb) is the causative agent of bovine tuberculosis (bTb). Genetic selection aiming to identify less susceptible animals has been proposed as a complementary measure in ongoing programs toward controlling Mb infection. However, individual animal phenotypes for bTb based on interferon-gamma (IFNɣ) and its use in bovine selective breeding programs have not been explored. In the current study, IFNɣ production was measured using a specific IFNɣ ELISA kit in bovine purified protein derivative (bPPD)-stimulated blood samples collected from Holstein cattle. DNA isolated from the peripheral blood samples collected from the animals included in the study was genotyped with the EuroG Medium Density bead Chip, and the genotypes were imputed to whole-genome sequences. A genome-wide association analysis (GWAS) revealed that the IFNɣ in response to bPPD was associated with a specific genetic profile (heritability = 0.23) and allowed the identification of 163 SNPs, 72 quantitative trait loci (QTLs), 197 candidate genes, and 8 microRNAs (miRNAs) associated with this phenotype. No negative correlations between this phenotype and other phenotypes and traits included in the Spanish breeding program were observed. Taken together, our results define a heritable and distinct immunogenetic profile associated with strong production of IFNɣ in response to Mb. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases)
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14 pages, 510 KiB  
Article
Single-Base Gene Variants in MIR-146A and SCN1A Genes Related to the Epileptogenic Process in Drug-Responsive and Drug-Resistant Temporal Lobe Epilepsy—A Preliminary Study in a Brazilian Cohort Sample
by Renata Parissi Buainain, André Rodrigues Sodré, Jéssica Silva dos Santos, Karen Antonia Girotto Takazaki, Luciano de Souza Queiroz, Carlos Tadeu Parisi de Oliveira, Paulo Henrique Pires de Aguiar, Fernando Augusto Lima Marson and Manoela Marques Ortega
Int. J. Mol. Sci. 2024, 25(11), 6005; https://doi.org/10.3390/ijms25116005 - 30 May 2024
Viewed by 877
Abstract
The drug-resistant temporal lobe epilepsy (TLE) has recently been associated with single nucleotide variants (SNVs) in microRNA(miR)-146a (MIR-146A) (rs2910164) and Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) (rs2298771 and rs3812718) genes. Moreover, no studies have shown an association between [...] Read more.
The drug-resistant temporal lobe epilepsy (TLE) has recently been associated with single nucleotide variants (SNVs) in microRNA(miR)-146a (MIR-146A) (rs2910164) and Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) (rs2298771 and rs3812718) genes. Moreover, no studies have shown an association between these SNVs and susceptibility to drug-resistant and drug-responsive TLE in Brazil. Thus, deoxyribonucleic acid (DNA) samples from 120 patients with TLE (55 drug-responsive and 65 drug-resistant) were evaluated by real-time polymerase chain reaction (RT-PCR). A total of 1171 healthy blood donor individuals from the Online Archive of Brazilian Mutations (ABraOM, from Portuguese Arquivo Brasileiro On-line de Mutações), a repository containing genomic variants of the Brazilian population, were added as a control population for the studied SNVs. MIR-146A and SCN1A relative expression was performed by quantitative RT-PCR (qRT-PCR). The statistical analysis protocol was performed using an alpha error of 0.05. TLE patient samples and ABraOM control samples were in Hardy–Weinberg equilibrium for all studied SNVs. For rs2910164, the frequencies of the homozygous genotype (CC) (15.00% vs. 9.65%) and C allele (37.80% vs. 29.97%) were superior in patients with TLE compared to controls with a higher risk for TLE disease [odds ratio (OR) = 1.89 (95% confidence interval (95%CI) = 1.06–3.37); OR = 1.38 (95%CI = 1.04–1.82), respectively]. Drug-responsive patients also presented higher frequencies of the CC genotype [21.81% vs. 9.65%; OR = 2.58 (95%CI = 1.25–5.30)] and C allele [39.09% vs. 29.97%; OR = 1.50 (95%CI = 1.01–2.22)] compared to controls. For rs2298771, the frequency of the heterozygous genotype (AG) (51.67% vs. 40.40%) was superior in patients with TLE compared to controls with a higher risk for TLE disease [OR = 2.42 (95%CI = 1.08–5.41)]. Drug-resistant patients presented a higher AG frequency [56.92% vs. 40.40%; OR = 3.36 (95%CI = 1.04–17.30)] compared to the control group. For rs3812718, the prevalence of genotypes and alleles were similar in both studied groups. The MIR-146A relative expression level was lower in drug-resistant compared to drug-responsive patients for GC (1.6 vs. 0.1, p-value = 0.049) and CC (1.8 vs. 0.6, p-value = 0.039). Also, the SCN1A relative expression levels in samples from TLE patients were significantly higher in AG [2.09 vs. 1.10, p-value = 0.038] and GG (3.19 vs. 1.10, p-value < 0.001) compared to the AA genotype. In conclusion, the rs2910164-CC and rs2298771-AG genotypes are exerting significant risk influence, respectively, on responsive disease and resistant disease, probably due to an upregulated nuclear factor kappa B (NF-kB) and SCN1A loss of function. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases)
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9 pages, 531 KiB  
Communication
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
Viewed by 1059
Abstract
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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