Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome
Carregando...
Citações na Scopus
1
Tipo de produção
article
Data de publicação
2023
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER
Autores
BORGES, Daniela de Paula
SANTOS, Rinna Maria Arruda Rodrigues dos
JR, Howard Lopes Ribeiro
LARRIPA, Irene Beatriz
CAMACHO, Maria Fernanda
GONZALEZ, Jacqueline
PRATX, Leandro Daniel Burgos
MAGALHAES, Silvia Maria Meira
BELLI, Carolina Barbara
Citação
HEMATOLOGY TRANSFUSION AND CELL THERAPY, v.45, n.2, p.147-153, 2023
Resumo
Nucleotide excision repair pathway (NER) is an essential mechanism for single-strand breaks (SSB) repair while xeroderma pigmentosum family (XPA to XPG) is the most impor-tant system to NER. Myelodysplastic syndrome (MDS) is a heterogeneous hematological cancer characterized by cytopenias and risk of acute myeloid leukemia (AML) transforma-tion. MDS pathogenesis has been associated with problems of DNA repair system. This report aimed to evaluate NER polymorphisms (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) in 269 MDS patients of different populations in Latin America (173 Brazilian and 96 Argentinean). Genotypes were identified in DNA samples by RT-qPCR using TaqMan SNP Genotyping Assay. Regarding rs1799793 polymorphism of XPD for Bra-zilian population, the heterozygous genotype AG presented a high odds ratio (OR) to have a normal karyotype (p = 0.012, OR=3.000) and the mutant homozygous genotype AA was asso-ciated to a high OR of AML transformation (p = 0.034, OR=7.4). In Argentine population, the homozygous mutant AA genotype of rs1800975 polymorphism of XPA was associated with an increased odd to have hemoglobin levels below 8g/dL (p = 0.013, OR=10.000) while for the rs1799793 polymorphism of XPD, the heterozygous AG genotype decreased OR to be classi-fied as good (p < 0.001, OR=9.05 & POUND; 10-10), and intermediate (p < 0.001, OR=3.08 & POUND; 10-10), according to Revised-International Prognostic Scoring System. Regarding the rs1800067 polymorphisms of XPF, the homozygous mutant AA genotype showed a decreased OR to be classified as good (p < 0.001, OR=4.03 & POUND; 10-13) and intermediate (p < 0.001, OR=2.54 & POUND; 10_13). Our report reinforces the heterogeneity of MDS and demonstrates the importance of ethnic differences and regional influences in pathogenesis and prognosis of MDS.& COPY; 2021 Associacao Brasileira de Hematologia, Hemoterapia e Terapia Celular.
Palavras-chave
Myelodysplastic syndrome, DNA damage, Functional polymorphism, DNA repair, NER
Referências
- Ades L, 2014, LANCET, V383, P2239, DOI 10.1016/S0140-6736(13)61901-7
- Aktuglu MB, 2014, MED ONCOL, V31, DOI 10.1007/s12032-014-0174-6
- Arber DA, 2016, BLOOD, V127, P2391, DOI 10.1182/blood-2016-03-643544
- Basu AK, 2018, INT J MOL SCI, V19, DOI 10.3390/ijms19040970
- Belickova M, 2013, J HEMATOL ONCOL, V6, DOI 10.1186/1756-8722-6-9
- Belli CB, 2015, AM J HEMATOL, V90, P851, DOI 10.1002/ajh.24097
- Chamseddine AN, 2016, CURR ONCOL REP, V18, DOI 10.1007/s11912-015-0489-2
- Chatterjee N, 2017, ENVIRON MOL MUTAGEN, V58, P235, DOI 10.1002/em.22087
- Clarke GM, 2011, NAT PROTOC, V6, P121, DOI 10.1038/nprot.2010.182
- Fabiani E, 2009, LEUKEMIA RES, V33, P1068, DOI 10.1016/j.leukres.2008.10.012
- Greenberg PL, 2017, J NATL COMPR CANC NE, V15, P60, DOI 10.6004/jnccn.2017.0007
- Greenberg PL, 2012, BLOOD, V120, P2454, DOI 10.1182/blood-2012-03-420489
- Hoeijmakers JHJ, 2009, NEW ENGL J MED, V361, P1475, DOI 10.1056/NEJMra0804615
- Joshi D, 2016, ANN HEMATOL, V95, P79, DOI 10.1007/s00277-015-2528-3
- Li L, 2011, LEUKEMIA RES, V35, P762, DOI 10.1016/j.leukres.2010.12.001
- Matsuda A, 2005, BLOOD, V106, P2633, DOI 10.1182/blood-2005-01-0040
- Miyazaki Y, 2018, LEUKEMIA RES, V73, P51, DOI 10.1016/j.leukres.2018.08.022
- de Castro CCM, 2012, J HEMATOL ONCOL, V5, DOI 10.1186/1756-8722-5-30
- Naeim F, 2008, MYELODYSPLASTIC SYND, V1st, P129
- Pena SDJ, 2011, PLOS ONE, V6, DOI 10.1371/journal.pone.0017063
- Ribeiro HL, 2013, DNA REPAIR, V12, P87, DOI 10.1016/j.dnarep.2012.10.010
- Ribeiro HL, 2016, LEUKEMIA RES, V48, P62, DOI 10.1016/j.leukres.2016.06.008
- Ribeiro HL, 2015, HEMATOL ONCOL, V33, P220, DOI 10.1002/hon.2175
- Santiago SP, 2017, LEUKEMIA RES, V58, P73, DOI 10.1016/j.leukres.2017.03.012
- Shi TY, 2012, PLOS ONE, V7, DOI 10.1371/journal.pone.0038606
- Spivak G, 2015, DNA REPAIR, V36, P13, DOI 10.1016/j.dnarep.2015.09.003