Li Wei-Xi, Li Yong-Kun, Lin Hai-Tao
School of Life Sciences, Sun Yat-Sen University, Guangzhou, Guangdong 510000, P.R. China.
Yunnan University of Traditional Chinese Medicine, Kunming, Yunnan 650000, P.R. China.
Exp Ther Med. 2018 Mar;15(3):2941-2945. doi: 10.3892/etm.2018.5740. Epub 2018 Jan 11.
The correlation between the variations in the polymorphic sites of survivin, rs9904341C/G and rs8073069C/G, and the pathogenesis of acute leukemia, as well as the guiding significance in clinical practice were investigated. We enrolled a total of 182 children with acute leukemia and 200 healthy children as the subjects. In accordance with the case-control method, the polymerase chain reaction was carried out for genetic typing of the two polymorphic sites, rs9904341C/G and rs8073069C/G. In the case group and the healthy group, the frequencies of C and G alleles in rs9904341C/G of survivin were 59.3 and 41.7%, and 46.7 and 50.3%, respectively, and the pairwise comparison showed statistically significant differences (P=0.008). Additionally, the frequencies of genotypes, C/C, C/G and G/G, were 38.5 and 41.7%; 19.8 and 26.5%; 16.5 and 27.0% in the case group and the healthy group, respectively, and the differences in comparisons showed statistical significance (P=0.033). The genotype frequency of C/C in the case group was 38.5%, significantly higher than that in the healthy group (26.5%). Compared with C/C, the risk coefficient of leukemia in patients with genotypes of C/G or G/G was significantly decreased. In the case group and the healthy group, the frequencies of C and G alleles in rs8073069C/G of survivin were 30.5 and 69.5%; 27.7 and 72.3%, respectively, and the pairwise comparison showed no statistically significant differences (P=0.404). Additionally, the frequencies of genotypes, C/C, C/G and G/G, were 11 and 39.0%; 50.0 and 9.0%; 37.5 and 53.5% in the case group and the healthy group, respectively, and the differences in comparisons showed no statistical significance (P=0.62). Compared with the genotype of C/C, we found that the risk of leukemia was not affected in patients with genotypes of C/G and G/G. In conclusion, the SNP of rs9904341C/G in survivin may be correlated with the risk of acute leukemia, and compared with C/C genotype, patients with C/G or G/G may have a decreased risk of acute leukemia. In survivin, rs8073069C/G may have no correlation with the risk of acute leukemia.
研究了生存素基因多态性位点rs9904341C/G和rs8073069C/G的变异与急性白血病发病机制之间的相关性及其在临床实践中的指导意义。我们共纳入182例急性白血病患儿和200例健康儿童作为研究对象。按照病例对照研究方法，对rs9904341C/G和rs8073069C/G这两个多态性位点进行聚合酶链反应基因分型。病例组和健康组中，生存素rs9904341C/G位点C和G等位基因频率分别为59.3%和41.7%，以及46.7%和50.3%，两两比较差异有统计学意义（P = 0.008）。此外，病例组和健康组中C/C、C/G和G/G基因型频率分别为38.5%和41.7%；19.8%和26.5%；16.5%和27.0%，比较差异有统计学意义（P = 0.033）。病例组中C/C基因型频率为38.5%，显著高于健康组（26.5%）。与C/C基因型相比，C/G或G/G基因型患者患白血病的风险系数显著降低。病例组和健康组中，生存素rs8073069C/G位点C和G等位基因频率分别为30.5%和69.5%；27.7%和72.3%，两两比较差异无统计学意义（P = 0.404）。此外，病例组和健康组中C/C、C/G和G/G基因型频率分别为11%和39.0%；50.0%和9.0%；37.5%和53.5%，比较差异无统计学意义（P = 0.62）。与C/C基因型相比我们发现，C/G和G/G基因型患者患白血病的风险未受影响。综上所述，生存素中rs9904341C/G的单核苷酸多态性可能与急性白血病风险相关，与C/C基因型相比，C/G或G/G基因型患者患急性白血病的风险可能降低。在生存素中，rs8073069C/G可能与急性白血病风险无关。
