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Tesi etd-10042017-100806


Thesis type
Tesi di laurea magistrale
Author
PIREDDA, CHIARA
URN
etd-10042017-100806
Title
Prognostic value of functional polymorphisms in multiple myeloma therapy
Struttura
BIOLOGIA
Corso di studi
BIOLOGIA APPLICATA ALLA BIOMEDICINA
Supervisors
relatore Prof. Campa, Daniele
relatore Prof.ssa Gemignani, Federica
Parole chiave
  • prognosi
  • marker
Data inizio appello
23/10/2017;
Consultabilità
Parziale
Data di rilascio
23/10/2020
Riassunto analitico
Multiple myeloma is a cancer characterized by the proliferation and accumulation of B lymphocytes and plasma cells in the bone marrow. Despite the advances that have been made in the diagnosis and treatment Multiple myeloma is currently an incurable disease. A recent study has identified a gene expression profile related to the response to the first line treatment on patients undergoing new generation therapies. The variability of gene expression may depend in part on polymorphisms. The purpose of our study was to verify whether expression quantitative trait loci in ENTPD1, CCND1, CCND2, ARK3, HELLS, and ACTR2 genes could be used as stable prognostic markers for multiple myeloma. In fact, if allelic variants of SNPs affect the expression of candidate genes in patients with multiple myeloma, then the same SNPs could be used as a prognostic markers. In order to perform the study we selected and genotyped 6 SNPs in 2552 individuals. SNPs were selected using the Genotype Tissue Expression web site. The parameters used for the selection of the SNPs were the P-Value and the effect size (lower P-Value and higher effect- size). We tested the genetic variability of the selected SNPs to identify their involvement in progression free survival (PFS) and the overall survival (OS) of multiple myeloma patients. We observed that carriers of the minor ( C) allele of the ENTPD1-rs2153213 showed a better survival in all the models used with the strongest being P-value 0.017, HR 0.71,CI (0.54-0.94),in codominant model The ENTPD1 has been suggested to be involved in immune modulation of response against cancer and therefore
the polymorphic variants affecting its expression may explain at least in part the great variability of patients survival.
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