The Relationship of and Variants with the Risk of Disease Development and Shortening of Overall Survival in Patients with Multiple Myeloma.

(1) Background: The aim of our study was to analyze the possible relationship of and gene variants with susceptibility and outcome of multiple myeloma (MM); (2) Methods: Genomic DNA samples from 110 newly-diagnosed MM patients and 100 healthy blood donors were analyzed by methods-PCR-RFLP (for 3435C > T, 6235T > C-m1), automated DNA sequencing (for 1236C > T, 2677G > T/A) and allele-specific PCR (for 4889A > G-m2); (3) Results: The genotypic frequencies of 4889A > G variant were not in Hardy-Weinberg equilibrium for MM patients. The presence of m1 and m2 alleles decreased the risk of MM-OR = 0.49 ( = 0.011) and OR = 0.27 ( = 0.0003), respectively. In turn, TT genotype ( 2677G > T/A) increased the risk of this disease ( = 0.007). In the multivariate Cox analysis CT + TT genotypes ( 3435C > T) were associated with decreased risk of death (HR = 0.29, = 0.04). In log-rank test in patients with CT genotype ( 3435C > T) was observed association of overall survival with the type of treatment; (4) Conclusions: Our findings suggest that T-alleles of 2677G > T/A and m1/m2 alleles of affected the susceptibility of MM. Moreover, T-allele of 3435C > T might be independent positive prognostic factor in MM.