Iakupova E V, Grinchuk O V, Kalimullina D Kh, Bakirov B A, Galimova R R, Makarova O V, Khusnutdinova E K, Viktorova T V
Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 450054 Russia.
Mol Biol (Mosk). 2003 May-Jun;37(3):420-4.
The-174G alpha-->C polymorphism of the interleukin 6 (IL-6) gene promoter and the-308G alpha-->A polymorphism of the tumor necrosis factor alpha (TNF alpha) gene promoter were tested for association with multiple myeloma (MM) varying in severity. Of 69 patients, 19 had aggressive MM, 26 had benign MM, and 24 had unidentified MM. The control group (N = 102) matched the test group in age and sex composition. The two groups did not significantly differ in allele and genotype frequencies of the IL-6 and TNF alpha genes. Genotype CC, which determines low-level expression of IL-6, occurred at a frequency of 0.35 in patients with low-progressing MM and was absent from patients with aggressive MM. The TNF alpha gene showed no association with predisposition to MM or clinical variant of the disease. On this evidence, the polymorphic variants of the cytokine genes were assumed to have no effect on predisposition to MM. As for MM progression, genotype CC of the IL-6 gene was associated with milder clinical signs in patients from Bashkortostan.
对白细胞介素6（IL-6）基因启动子的-174Gα→C多态性和肿瘤坏死因子α（TNFα）基因启动子的-308Gα→A多态性与严重程度不同的多发性骨髓瘤（MM）进行关联检测。69例患者中，19例为侵袭性MM，26例为良性MM，24例为未明确类型的MM。对照组（N = 102）在年龄和性别构成上与试验组匹配。IL-6和TNFα基因的等位基因及基因型频率在两组间无显著差异。决定IL-6低水平表达的CC基因型在低度进展性MM患者中的出现频率为0.35，而侵袭性MM患者中不存在该基因型。TNFα基因与MM的易感性或疾病临床类型无关联。据此，推测细胞因子基因的多态性变体对MM易感性无影响。至于MM进展，在巴什科尔托斯坦的患者中，IL-6基因的CC基因型与较轻的临床症状相关。
