Among a panel of polymorphisms in genes related to oxidative stress, CAT-262 C&gt;T, GPX1 Pro198Leu and GSTP1 Ile105Val influence the risk of developing BCR-ABL negative myeloproliferative neoplasms

Bănescu, Claudia; Dima, Delia; Bojan, Anca; Tevet, Mihaela; Moldovan, Valeriu; Vesa, Ștefan Cristian; Murat, Meilin; Pop, Ioan Victor; Skrypnyk, Cristina; Popp, Radu A.

doi:10.1080/10245332.2016.1163889

Cited by 10 publications

(4 citation statements)

References 21 publications

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“…Similarly, another study by Bezemer et al reported that in IUGR patients, there appeared to be an increase in the inflammatory phenotype of decidual macrophages compared to healthy controls [ 51 ]. Similar findings have been reported from studies of preeclampsia and preterm birth, with elevated expression of the pro-inflammatory macrophage phenotype [ 52 - 55 ]. Sharps et al, in their study, also showed increased levels of placental macrophages along with inflammatory markers in the placenta in pregnancies in which the fetus had a reduced growth rate in the third trimester [ 56 ].…”

Section: Reviewsupporting

confidence: 89%

Correlation Between Maternal-Fetus Interface and Placenta-Mediated Complications

Andreescu

2024

Cureus

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Section: Reviewsupporting

confidence: 89%

Correlation Between Maternal-Fetus Interface and Placenta-Mediated Complications

Andreescu

2024

Cureus

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“…Another group of studies focused on clinical aspects of MPN, describing hemorrhagic complications [19], clinical manifestations [57], symptomatology [63] or the relationship of hematological characteristics with clinical complications [18]. Finally, a third subgroup included publications related to the characterization of cellular and metabolic processes, such as the measurement of the expression of the protein B catenin in BCR-ABL -negative MPN [58], the relationship of immune modulators with MPN [65], polymorphisms in oxidative stress genes [15] or the measurement of serum levels of proteins related to angiogenesis in MPN [71].…”

Section: Resultsmentioning

confidence: 99%

Systematization of analytical studies of polycythemia vera, essential thrombocythemia and primary myelofibrosis, and a meta-analysis of the frequency of JAK2, CALR and MPL mutations: 2000–2018

2019

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Background Research into Philadelphia-negative chronic myeloproliferative neoplasms is heterogeneous. In addition, no systematization of studies of polycythemia vera (PV), essential thrombocythemia (ET) or primary myelofibrosis (PMF) have been carried out. The objective of this review is to characterize studies on BCR-ABL1 -negative chronic myeloproliferative neoplasms and to compare the frequency of JAK2, MPL and CALR mutations in PV, ET and PMF. Method A systematic review of the scientific literature was conducted, as was meta-analysis with an ex-ante selection of protocol, according to phases of the PRISMA guide in three interdisciplinary databases. To guarantee reproducibility in the pursuit and retrieval of information, the reproducibility and methodological quality of the studies were evaluated by two researchers. Results Fifty-two studies were included, the majority having been carried out in the United States, China, Brazil and Europe. The frequency of the JAK2V617F mutation ranged from 46.7 to 100% in patients with PV, from 31.3 to 72.1% in patients with ET, and from 25.0 to 85.7% in those with PMF. The frequency of the MPL mutation was 0% in PV, from 0.9 to 12.5% in ET, and from 0 to 17.1% in PMF. The CALR mutation occurred at a frequency of 0.0% in PV, whereas in ET, it ranged from 12.6 to 50%, and in PMF, it ranged from 10 to 100%. The risk of this mutation presenting in PV is 3.0 times that found for ET and 4.0 times that found for PMF. Conclusion Given the specificity and reported high frequencies of the JAK2V617F, MPL and CALR mutations in this group of neoplasms, the diagnosis of these diseases should not be made on clinical and hematological characteristics alone but should include genetic screening of patients.

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“…Moreover, there are several evidences for a causative role of somatic mutations in MPN development, such as the V617F mutation in the JAK2 gene and mutations in CALR and MPL 6 , 7 . In addition, common low penetrance variants have been associated with the disease risk, in particular, seven single nucleotide polymorphisms (SNPs) have been identified through three genome-wide association studies (GWAS) 6 , 8 , 9 and, through case–control studies, additional hits such as the 46/1 JAK2 haplotype 10 and several SNPs belonging to genes involved in DNA repair, apoptosis, inflammation, and detoxification 11 – 16 .…”

Section: Introductionmentioning

confidence: 99%

Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms

et al. 2020

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Telomere length measured in leukocyte (LTL) has been found to be associated with the risk of developing several cancer types, including myeloproliferative neoplasms (MPNs). LTL is genetically determined by, at least, 11 SNPs previously shown to influence LTL. Their combination in a score has been used as a genetic instrument to measure LTL and evaluate the causative association between LTL and the risk of several cancer types. We tested, for the first time, the "teloscore" in 480 MPN patients and 909 healthy controls in a European multi-center case-control study. We found an increased risk to develop MPNs with longer genetically determined telomeres (OR = 1.82, 95% CI 1.24-2.68, P = 2.21 × 10 −3 , comparing the highest with the lowest quintile of the teloscore distribution). Analyzing the SNPs individually we confirm the association between TERT-rs2736100-C allele and increased risk of developing MPNs and we report a novel association of the OBFC1-rs9420907-C variant with higher MPN risk (OR allelic = 1.43; 95% CI 1.15-1.77; P = 1.35 × 10 −3). Consistently with the results obtained with the teloscore, both risk alleles are also associated with longer LTL. In conclusion, our results suggest that genetically determined longer telomeres could be a risk marker for MPN development.

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Among a panel of polymorphisms in genes related to oxidative stress, CAT-262 C>T, GPX1 Pro198Leu and GSTP1 Ile105Val influence the risk of developing BCR-ABL negative myeloproliferative neoplasms

Abstract: Our study provides evidence that variation in genes related to oxidative stress might modulate the risk of developing BCR-ABL negative myeloproliferative neoplasms.

Cited by 10 publications

References 21 publications

Correlation Between Maternal-Fetus Interface and Placenta-Mediated Complications

Correlation Between Maternal-Fetus Interface and Placenta-Mediated Complications

Systematization of analytical studies of polycythemia vera, essential thrombocythemia and primary myelofibrosis, and a meta-analysis of the frequency of JAK2, CALR and MPL mutations: 2000–2018

Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms

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