scholarly journals Single-nucleotide polymorphism rs1052501 associated with monoclonal gammopathy of undetermined significance and multiple myeloma

Leukemia ◽  
2012 ◽  
Vol 27 (2) ◽  
pp. 515-516 ◽  
Author(s):  
A J Greenberg ◽  
A M Lee ◽  
D J Serie ◽  
S K McDonnell ◽  
J R Cerhan ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Single Nucleotide Polymorphism ◽  
Monoclonal Gammopathy ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Undetermined Significance

scholarly journals Sequence analysis of β-subunit genes of the 20S proteasome in patients with relapsed multiple myeloma treated with bortezomib or dexamethasone

Blood ◽  
2012 ◽  
Vol 120 (23) ◽  
pp. 4513-4516 ◽  
Author(s):  
David I. Lichter ◽  
Hadi Danaee ◽  
Michael D. Pickard ◽  
Olga Tayber ◽  
Michael Sintchak ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Single Nucleotide Polymorphism ◽  
Proteasome Inhibitors ◽  
Proteasome Inhibition ◽  
Allelic Frequency ◽  
High Dose ◽  
20S Proteasome ◽  
Clinical Relapse ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

AbstractVariations within proteasome β (PSMB) genes, which encode the β subunits of the 20S proteasome, may affect proteasome function, assembly, and/or binding of proteasome inhibitors. To investigate the potential association between PSMB gene variants and treatment-emergent resistance to bortezomib and/or long-term outcomes, in the present study, PSMB gene sequence variation was characterized in tumor DNA samples from patients who participated in the phase 3 Assessment of Proteasome Inhibition for Extending Remissions (APEX) study of bortezomib versus high-dose dexamethasone for treatment of relapsed multiple myeloma. Twelve new PSMB variants were identified. No associations were found between PSMB single nucleotide polymorphism genotype frequency and clinical response to bortezomib or dexamethasone treatment or between PSMB single nucleotide polymorphism allelic frequency and pooled overall survival or time to progression. Although specific PSMB5 variants have been identified previously in preclinical models of bortezomib resistance, these variants were not detected in patient tumor samples collected after clinical relapse from bortezomib, which suggests that alternative mechanisms underlie bortezomib insensitivity. This study is registered at www.clinicaltrials.gov as NCT00048230.

scholarly journals A Single Nucleotide Polymorphism in SLC7A5 Was Associated With Clinical Response in Multiple Myeloma Patients

2018 ◽  
Vol 39 (1) ◽  
pp. 67-72 ◽  
Author(s):  
MING J. POI ◽  
JUNAN LI ◽  
JASMINE A. JOHNSON ◽  
YU KYOUNG CHO ◽  
DOUGLAS W. SBOROV ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Single Nucleotide Polymorphism ◽  
Clinical Response ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

High Resolution Genomic Profiling Using Single Nucleotide Polymorphism Microarrays Identifies Multiple Novel Genomic Minimally Deleted Regions in Multiple Myeloma

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 625-625
Author(s):  
Brian A WalKer ◽  
Paola E Leone ◽  
Nicholas J Dickens ◽  
Matthew W Jenner ◽  
Laura Chiecchio ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Single Nucleotide Polymorphism ◽  
High Resolution ◽  
Genomic Profiling ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals The role of single nucleotide polymorphism of IL-6 and IL-10 cytokine on pain severity and pain relief after radiotherapy in multiple myeloma patients with painful bone destructions

Genetika ◽  
2014 ◽  
Vol 46 (2) ◽  
pp. 455-469 ◽  
Author(s):  
Milda Rudzianskiene ◽  
Arturas Inciura ◽  
Elona Juozaityte ◽  
Rolandas Gerbutavicius ◽  
Renata Simoliuniene ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Single Nucleotide Polymorphism ◽  
Pain Relief ◽  
Promoter Region ◽  
Severe Pain ◽  
Gene Promoter ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Analgesic Response

Multiple myeloma (MM) cells interact with bone marrow stromal cells stimulating transcription and secretion of cytokines like IL-6 and IL-10, which are implicated in the progression and dissemination of MM. Regulation of cytokines secretion is under genetic control through genetic polymorphisms in their coding and promoter sequences. It seems that single nucleotide polymorphism (SNP) in the promoter region of various genes may regulate the plasma concentrations of cytokines. Cytokines could be also hypothesized to function as pain modulators as peripheral nociceptors are sensitized by cytokines. The aim was to determine if the SNP of IL-6 and IL-10 cytokines could influence the analgesic response of radiotherapy in the treatment of painful bone destructions in MM patients. 30 patients (19 women and 11 men, median age: 67 years) with MM and painful bone destructions were treated with palliative radiotherapy. Pain was evaluated according to the visual analogue scale and analgesics intake. Pain scores and analgesics use were measured prior to radiotherapy as well as 4, 12 and 24 weeks afterward. Opioid analgesics were converted to the morphine-equivalent daily dose (MEDD). Genomic DNA was extracted from peripheral blood leukocytes and IL-6 and IL-10 gene promoter polymorphisms were analysed with polymerase chain reaction. 60% of patients reported severe pain prior to radiotherapy, which decreased to 13% at the first follow-up visit (p <0.001). The MEDD on admission to the hospital was 75 mg/day which decreased to 46 mg/day at the first follow-up visit (p = 0.033). A significant parameter in pain relief was: age < 65 years (p=0.029). We analysed 6 SNPs in the gene promoter region of IL-6 (-597 G/A, -572 G/C, -174 G/C) and IL-10 (-592 A/C, -819 C/T, -1082 A/G) as well as their relation with pain severity and analgesic consumption. Patients who are IL-10 -1082 A/G carriers are prone to respond better to radiotherapy than other patients (p<0.05). A borderline association was noted for patients who are IL-6 -597 A/A and G/G carriers - assumed to be at higher risk for severe pain prior to radiotherapy (p=0.07) while for patients who are IL-10 - 1082 A/A carries: the median pain score decreased faster (p=0.08). Patients with genotypes IL-6 -597 A/A and IL-6 -174 C/C required a smaller dose of opioids (p=0.06). SNP of IL-6 and IL-10 cytokines can influence the analgesic response of radiotherapy. Patients with genotype IL-10 -1082 A/G respond better to radiotherapy.

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