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DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population
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Resumo(s)
The role of base excision repair (BER) genes in Philadelphia-negative (PN)-myeloproliferative neoplasms (MPNs) susceptibility was evaluated by genotyping eight polymorphisms [apurinic/apyrimidinic endodeoxyribonuclease 1, mutY DNA glycosylase, earlier mutY homolog (E. coli) (MUTYH), 8‑oxoguanine DNA glycosylase 1, poly (ADP‑ribose) polymerase (PARP) 1, PARP4 and X‑ray repair cross‑complementing 1 (XRCC1)] in a case‑control study involving 133 Caucasian Portuguese patients. The results did not reveal a correlation between individual BER polymorphisms and PN‑MPNs when considered as a whole. However, stratification for essential thrombocythaemia revealed i) borderline effect/tendency to increased risk when carrying at least one variant allele for XRCC1_399 single‑nucleotide polymorphism (SNP); ii) decreased risk for Janus kinase 2‑positive patients carrying at least one variant allele for XRCC1_399 SNP; and iii) decreased risk in females carrying at least one variant allele for MUTYH SNP. Combination of alleles demonstrated an increased risk to PN‑MPNs for one specific haplogroup. These findings may provide evidence for gene variants in susceptibility to MPNs. Indeed, common variants in DNA repair genes may hamper the capacity to repair DNA, thus increasing cancer susceptibility.
Descrição
The authors gratefully acknowledge all patients and controls who generously participated in the present study. Our appreciation and thanks are extended to laboratory technicians, Mrs. Luisa Manso Oliveira, Mrs. Silvia Morgado Amaro and Miss Ines Sousa, (Department of Clinical Pathology, Hospital de Sao Francisco Xavier, Centro Hospitalar de Lisboa Ocidental) for their expert technical assistance. The present study was supported by funding through the project no. UID/BIM/00009/2013 from the Science and Technology Foundation of Portugal, which also awarded a Post-Doctoral Research grant to S.N.S. (grant no. SFRH/BPD/80462/2011).
Palavras-chave
Philadelphia‑negative myeloproliferative neoplasms genetic susceptibility base excision repair genes polymorphisms DNA repair SDG 3 - Good Health and Well-being