Significance of genetic polymorphisms in hematological malignancies: implications of risk factors for prognosis and relapse

Asnafi, Ali Amin; Farshchi, Niloofar; Khosravi, Abbas; Ketabchi, Neda; Behzad, Masumeh Maleki; Shahrabi, Saeid

doi:10.1007/s12254-018-0446-5

Cited by 7 publications

(3 citation statements)

References 87 publications

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“…To the best of our knowledge, a possible association between driver gene mutations and the combinations of the aforementioned SNPs is yet to be reported. Notably, it has been shown that the presence of SNPs in several biological targets, such as cytokines, drug-metabolizing enzymes and tumor suppressor proteins, can be independently involved in leukemogenesis by affecting proliferation, apoptosis and other associated processes (26). However, a complex interaction of several factors, such as recurrent somatic, cytogenetic and molecular alterations, is considered to be associated with predisposing environmental factors (27).…”

Section: Rr Ormentioning

confidence: 99%

Role of CXCL12, TP53 and CYP1A1 gene polymorphisms in susceptibility to pediatric acute lymphoblastic leukemia

et al. 2021

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Acute lymphoblastic leukemia (ALL) is the most common type of childhood leukemia and represents one third of all pediatric malignancies. Epidemiological studies have shown that various genetic factors play a crucial role in leukemogenesis. Recent genetic association studies on cancer risk have focused on the effects of single-nucleotide polymorphisms (SNPs) in genes that regulate inflammation and tumor suppression, such as chemokines, TP53 and cytochrome P450s (CYPs). Genetic polymorphisms in the 3' untranslated region of the C-X-C motif chemokine ligand 12 (CXCL12; rs1801157) and TP53 (rs1042522) genes have been suggested to influence the risk of ALL in children, while other studies have indicated an association between the CYP1 subfamily A member 1 (CYP1A1) * 2C (rs1048943) allele and leukemia risk. The aim of the present study was to investigate the possible association of rs1801157 (CXCL12), rs1042522 (TP53) and rs1048943 (CYP1A1 * 2C) SNPs with an increased susceptibility of developing ALL. These SNPs were analyzed in 86 children or adolescent patients with ALL and 125 control subjects by PCR-restriction fragment length polymorphism and allelic-specific chain reaction techniques. A higher frequency of CYP1A1 * 2C heterozygotes and TP53 rare homozygotes, which include the proline (Pro)/Pro genotype, was observed among children with ALL and control subjects, whereas no significant differences were observed for the CXCL12 SNP. Furthermore, the analysis of various allelic combinations of the aforementioned gene polymorphisms demonstrated a markedly increased risk of developing ALL in children. In conclusion, the present study demonstrated that there was a strong association between CYP1A1 * 2C heterozygotes, as well as the TP53 Pro/Pro genotype, and an increased susceptibility for pediatric ALL in Caucasians.

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Section: Rr Ormentioning

confidence: 99%

Role of CXCL12, TP53 and CYP1A1 gene polymorphisms in susceptibility to pediatric acute lymphoblastic leukemia

et al. 2021

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“…Several genetic mediators may be responsible for the sex differences observed in lymphoma incidence. Sex chromosomes and sex hormones are intricately linked in immunoregulatory processes [14]; affecting autoimmune disease susceptibility [15,16] and progression of haematological malignancies [17]. Distinct differences exist between immune function in males and females, with influence from genetic factors [18]; however, sex differences with respect to disease incidence and progression are not fully understood.…”

Section: Introductionmentioning

confidence: 99%

Shared genetic features between lymphoma pathogenesis and oestrogen levels

Hill,

Muckian,

Garre

et al. 2024

Preprint

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In the last decade, genetic analysis has aided lymphoma classification, alongside traditional phenotypic subdivision. Lymphomas exhibit sex differences in disease incidence and prevalence; therefore, scope existed to explore sex-specific genetic variation. Harnessing UK Biobank genetic data (185,000 females, 176,000 males), sex-specific genome-wide genetic variation significantly associated with lymphoma subtypes was determined in both autosomal and sex chromosome genes. Sex-specific genetic variation significantly associated with sex-related characteristics was also identified. Functional predictions for those genes containing significant (p<5x10-5) genetic variation was carried out via ViSEAGO. For each lymphoma subtype, approximately 10-12% of the genes containing significantly associated genetic variants were shared between the sexes, highlighting largely sex-specific profiles for lymphoma subtypes. Significantly associated X chromosome genetic variants were identified for Non-Hodgkin's lymphoma (NHL) and Diffuse large B-cell lymphoma (DLBCL), such as variants within SYTL5 (in males) and PPP2R3B (in females); genes previously implicated in haematological malignancy biological processes. Additionally, in female NHL patients, a genetic variant mapped to ESR1, the gene coding for oestrogen receptor-alpha was identified, adding to the body of evidence highlighting the relevance of oestrogen regulation for haematological malignancy subtypes. Indeed, up to 9.1% of overlap was observed between those genes containing significant genetic variation associated with specific lymphoma subtypes, and those significantly associated with oestrogen level determination. Gene ontology analysis further emphasised functional overlaps between lymphoma and oestrogen level determination in females, highlighting predicted involvement in epigenetic modification, gene expression, and signalling. This study revealed sex-specific genetic variation significantly associated with lymphoma, as well as hormone level determination, and revealed biological pathways potentially disrupted during lymphoma pathogenesis which are influenced by oestrogen. Exploring these pathways may advance our understanding of the sex-specificities of lymphoma, and may reveal therapeutic targets to advance patient care.

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“…According to reports by the World Health Organization, the incidence of AML is related to several chromosomal abnormalities that have similar clinical manifestations but different morphologic, immunophenotypic, and cytogenetic subtypes 3 . Moreover, altered expression of a large number of genes, including cytokine, ion channel, as well as CD markers may play a role in the pathogenesis and prognosis of AML 4 - 7 .…”

Section: Introductionmentioning

confidence: 99%

Effects of Lifestyle and Environmental Factors on the Risk of Acute Myeloid Leukemia: Result of a Hospital-based Case-Control Study

et al. 2021

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Background: Acute myeloid leukemia (AML) is a common malignancy in adults. A vast variety of environmental and lifestyle factors play a role in AML incidence. This study aimed to assess the factors related to AML. Study design: A case-control study. Methods: This case-control study was performed on 137 AML cases during 2018-2021 at Beheshti Hospital in Hamadan, Iran, and 137 gender/age-matched controls. A questionnaire including 12 items was used to obtain information about lifestyle and environmental factors. A univariate and multiple variate logistic regression was used to estimate the odds ratios (OR), and a 95% confidence interval (CI) was used to investigate the relationship between the studied variables and the incidence of AML. Results: Based on findings, 62 (45.3%) out of the 137 leukemic cases were male and 75 (4.7%) were females. A statistically significant increased risk for AML was found with regard to prior usage of cytotoxic agents (OR: 8.00, 95% CI: 1.01, 63.9, P=0.050), family history of malignancies (OR: 3.62, 95% CI: 1.65, 7.92, P=0.001), exposure to electrical power (OR: 3.22, 95% CI: 1.52, 6.81, P=0.002), and history of mental diseases (OR: 8.50, 95% CI: 3.64, 19.80, P=0.001). It was found that the AML incidence had no association with age, gender, radiation therapy, cigarette smoking, prior chemotherapy, congenital disorders, exposure to chemical agents, history of infectious mononucleosis, exercise, and blood transfusion (P>0.05). Conclusion: The current results suggested that cytotoxic agents, family history of malignancy, mental disorders, and exposure to electrical power could play a role in AML incidence.

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Significance of genetic polymorphisms in hematological malignancies: implications of risk factors for prognosis and relapse

Cited by 7 publications

References 87 publications

Role of CXCL12, TP53 and CYP1A1 gene polymorphisms in susceptibility to pediatric acute lymphoblastic leukemia

Role of CXCL12, TP53 and CYP1A1 gene polymorphisms in susceptibility to pediatric acute lymphoblastic leukemia

Shared genetic features between lymphoma pathogenesis and oestrogen levels

Effects of Lifestyle and Environmental Factors on the Risk of Acute Myeloid Leukemia: Result of a Hospital-based Case-Control Study

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