Polymorphisms at microRNA binding sites of Ara-C and anthracyclines-metabolic pathway genes are associated with outcome of acute myeloid leukemia patients

Cao, Hongyan; Miao, Chaofeng; Liang, Yan; Tang, Peng; Zhang, Lirong; Sun, Ling

doi:10.1186/s12967-017-1339-9

Cited by 13 publications

(6 citation statements)

References 44 publications

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“…Moreover, no significant effect of these SNPs on chemotherapy-related toxicities was seen. In contrast, Cao et al demonstrated an association of MRP1 SNPs with gastrointestinal toxicities after chemotherapy in a Chinese population, which we could not confirm in our study of Caucasian patients [ 26 ]. No correlation was observed regarding age, gender, ECOG performance status, FAB subtypes, bone marrow blasts at diagnosis, or baseline blood count parameters (data not shown).…”

Section: Discussioncontrasting

confidence: 99%

Multidrug-related protein 1 (MRP1) polymorphisms rs129081, rs212090, and rs212091 predict survival in normal karyotype acute myeloid leukemia

et al. 2020

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Resistant disease is still a main obstacle in acute myeloid leukemia (AML) treatment. Therefore, individual genetic variations affecting therapy response are gaining increasing importance. Both SNPs and ABC transporter genes could already be associated with drug resistance. Here, we report allelic variants of MRP1 (ABCC1) SNPs rs129081, rs212090, and rs212091 with significant influences on survival in AML patients. DNA was extracted from bone marrow samples (n = 160) at diagnosis. Genotyping 48 SNPs within seven different ABC transporter genes using real-time PCR revealed rs129081 GG variant with a significant higher OS (p = 0.035) and DFS (p = 0.01). Comparing TT and AA rs212090 variants showed significant influences on DFS (p = 0.021). SNP rs212091 GG expression was associated with worse OS (p = 0.006) and a significant difference in DFS between alleles GG and AA (p = 0.018). The multivariable models confirmed a significant influence on OS for rs212091 (AA HR = 0.296, 95% CI 0.113–0.774, p = 0.013 and GG p = 0.044). Rs129081 variant CG, TT of rs212090, AA, and AG of rs212091 demonstrated significant impact on DFS (p = 0.024, p = 0.029, p = 0.017, and p = 0.042, respectively). This analysis demonstrates a significant influence of MRP1 SNPs on survival in AML. As they were not associated to prognostic characteristics, we suggest these SNPs to be independent prognostic markers for AML.

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Section: Discussioncontrasting

confidence: 99%

Multidrug-related protein 1 (MRP1) polymorphisms rs129081, rs212090, and rs212091 predict survival in normal karyotype acute myeloid leukemia

et al. 2020

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“…Using the SNPinfo Web Server 20 (http://snpinfo.niehs.nih.gov/) and HaploReg, version 4.1 21 (http://pubs.broadinstitute.org/mammals/haploreg/haploreg.php), the functions of SNPs associated with EC risk were successfully predicted (Table 7).…”

Section: Resultsmentioning

confidence: 99%

Variants in multiple genes are associated with esophageal cancer risk in a Chinese Han population: A case–control study

Xiong

Sun

et al. 2020

The Journal of Gene Medicine

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Background: The present study investigated whether 16 single nucleotide polymorphisms (SNPs), selected based on minor allele frequencies, Hardy-Weinberg equilibrium and reported SNPs related to the susceptibility of certain gastrointestinal cancer, were associated with esophageal cancer (EC) risk in a Chinese Han population. Methods: We genotyped 16 SNPs among 506 cases and 507 controls using Agena MassARRAY (Agena, San Diego, CA, USA). The association between 16 SNPs and EC risk was analyzed by a chi-squared test and genetic model analysis. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results: rs1050631 and the rs6214 were associated with a decreased EC risk (OR = 0.75, p = 0.038; OR = 0.74, p = 0.045, respectively). In stratification analysis, the rs9868873 was associated with an increased EC risk (age < 64 years) (OR = 5.03, p = 0.005). The rs6214 was associated with a decreased EC risk (age < 64 years) (OR = 0.59, p = 0.025). The rs861530 was significantly associated with a decreased EC risk (age ≥ 64 years) (OR = 0.67, p = 0.046). rs1050631 was associated with a decreased EC risk in males (OR = 0.71, p = 0.034). In the stratified analysis of clinical stage III/IV, the rs1800566 was associated with a decreased EC risk (OR = 0.49, p = 0.024). Finally, the rs1052133 was associated with an elevated EC risk in the stratified analysis of lymph node metastasis (OR = 1.73, p = 0.025). Conclusions: The findings of the present study demonstrate that SLC39A6, IGF1, SEMA5B, XRCC3, NQO1 and OGG1 polymorphisms were associated with EC risk under multiple models. K E Y W O R D S case-control study, Chinese Han population, esophageal cancer, genetic polymorphism 1 | INTRODUCTION Esophageal cancer (EC) is the sixth leading cause of cancer death worldwide. It is mainly divided into two main subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma. 1 It is widely distributed among different countries, races and populations. 2,3 In China, the rates of EC vary greatly over geographic distances, and the mortality rate in some high-incidence areas is as high as 25%. 4 Its clinical manifestations are mainly progressive dysphagia; along with the progress of the disease, there will be symptoms of esophageal compression such as hoarseness and Horner syndrome. However, the diagnosis of most patients has already entered the

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“…One previous study found that this SNP was significantly associated with chemotherapy‐related toxicities in Chinese acute myeloid leukemia (AML) patients. 37 The possible underlying mechanism responsible for the observed association originated from ABCC1 rs3743527 might be the alteration of binding ability with miRNA due to its location in 3’-UTR. To date, the impact of genetic polymorphisms within ABCC2 on clinical response to MTX has only been evaluated in a few studies.…”

Section: Discussionmentioning

confidence: 99%

Associations Between Genetic Polymorphisms Within Transporter Genes and Clinical Response to Methotrexate in Chinese Rheumatoid Arthritis Patients: A Pilot Study

Cen¹,

Wen²,

Zhang³

et al. 2022

PGPM

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Purpose To investigate the associations between genetic polymorphisms within transporter genes and clinical response to methotrexate (MTX) in Chinese rheumatoid arthritis (RA) patients. Patients and Methods A total of 100 RA patients receiving MTX were prospectively followed up for approximately 3 months to determine the clinical response based on several criteria, including European League Against Rheumatism (EULAR) good and moderate response, disease activity score in 28 joint counts – erythrocyte sedimentation rate (DAS28-ESR) low disease activity (LDA), change in DAS28-ESR (ΔDAS28-ESR) and ΔDAS28-ESR >0.6. Fifty-four single nucleotide polymorphisms (SNPs) within seven transporter genes, including SLC19A1, ABCB1, ABCC1~4 and ABCG2 , were genotyped. Results Multivariable analysis revealed that SLC19A1 rs12659 and rs3788200, ABCC2 rs3740066, rs4148396 and rs717620 were significantly associated with EULAR good and moderate response, and ABCC2 rs3740066 and rs717620 were significantly associated with DAS28-ESR LDA, and ABCB1 rs1128503, rs4148737 and ABCC3 rs2277624, rs4148416 were significantly associated with ΔDAS28-ESR. Moreover, 12 genetic polymorphisms were found to be significantly associated with ΔDAS28-ESR >0.6. With adjustment for corresponding confounders, SLC19A1 TGAA haplotype consisting of rs1051266, rs1131596, rs12659 and rs3788200 was significantly associated with EULAR good and moderate response and ΔDAS28-ESR >0.6 compared with the most common haplotype CAGG. The ABCC2 haplotype TTT composed of rs717620, rs4148396 and rs3740066 was significantly associated with EULAR good and moderate response and ΔDAS28-ESR >0.6 compared with the most common haplotype CCC. Conclusion Our results highlight the potential of genetic polymorphisms within transporter genes, particularly SLC19A1 and ABCC2 , as predictors of clinical response to MTX in Chinese RA patients.

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Polymorphisms at microRNA binding sites of Ara-C and anthracyclines-metabolic pathway genes are associated with outcome of acute myeloid leukemia patients

Cited by 13 publications

References 44 publications

Multidrug-related protein 1 (MRP1) polymorphisms rs129081, rs212090, and rs212091 predict survival in normal karyotype acute myeloid leukemia

Multidrug-related protein 1 (MRP1) polymorphisms rs129081, rs212090, and rs212091 predict survival in normal karyotype acute myeloid leukemia

Variants in multiple genes are associated with esophageal cancer risk in a Chinese Han population: A case–control study

Associations Between Genetic Polymorphisms Within Transporter Genes and Clinical Response to Methotrexate in Chinese Rheumatoid Arthritis Patients: A Pilot Study

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