| Summary: | Multiple myeloma (MM) is a multifactorial genetic disorder caused by interactive effects of environmental and genetic factors. The proper <i>locus</i> of the <i>TP53</i> gene (17p13.1) and its protein is essential in genomic stability. The most common variant of the <i>TP53</i> gene—p.P72R (rs1042522)—shows functional variation. The aim of our study was a complex analysis of the <i>TP53</i> p.P72R variant and <i>TP53</i> gene expression in relation to chromosomal changes of the <i>TP53</i> gene <i>locus</i>, as well as MM risk and outcome. Genomic DNA from 129 newly diagnosed MM patients was analyzed by methods of automated DNA sequencing (for <i>TP53</i> variant analysis) and cIg-FISH (for chromosomal aberrations analysis). RNA was used in real-time PCR to determine the <i>TP53</i> expression. In MM patients, the <i>TP53</i> variant was not in Hardy–Weinberg equilibrium. The RR genotype was associated with lower MM risk (OR = 0.44, <i>p</i> = 0.004). A higher number of plasma cells was found in patients with RR genotype in comparison to those with PP + PR genotypes (36.74% vs. 28.30%, <i>p</i> = 0.02). A higher expression of the <i>TP53</i> gene was observed in PP + PR genotypes vs. RR homozygote (<i>p</i> < 0.001), in smokers vs. non-smokers (<i>p</i> = 0.02). A positive Pearson’s correlation was found between the <i>TP53</i> expression level and the number of plasma cells (r = 0.26, <i>p</i> = 0.04). The presence of chromosome 17 aberrations with or without <i>TP53 locus</i> did not affect the MM risk and outcome. Similar results were observed in the case of <i>TP53</i> gene expression and the p.P72R variant.
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