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Correlation between survivin polymorphism and acute leukemia of children.

ABSTRACT: 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.

SUBMITTER: Li WX

PROVIDER: S-EPMC5795526 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Correlation between survivin polymorphism and acute leukemia of children.

Li Wei-Xi WX Li Yong-Kun YK Lin Hai-Tao HT

Experimental and therapeutic medicine 20180111 3

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 c ...[more]

PMID: 29456699

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Project description:PurposeAlthough MYBL2 had been validated to participate in multiple cancers including leukemia, the role of MYBL2 polymorphisms in acute lymphoblastic leukemia (ALL) was still not clear. In this study, we aimed to evaluate the association between MYBL2 single nucleotide polymorphisms (SNPs) and ALL risk in children.MethodsA total of 687 pediatric ALL cases and 971 cancer-free controls from two hospitals in South China were recruited. A case-control study by genotyping three SNPs in the MYBL2 gene (rs285162 C>T, rs285207 A>C, and rs2070235 A>G) was conducted. The associations were assessed by odds ratios (ORs) with corresponding 95% confidence intervals (CIs). Subgroup and stratification analyses were conducted to explore the association of rs285207 with ALL risk in terms of age, sex, immunophenotype, risk level, and other clinical characteristics. The false-positive report probability (FPRP) analysis was performed to verify each significant finding. Functional analysis in silico was used to evaluate the probability that rs285207 might influence the regulation of MYBL2 .ResultsOur study demonstrated that rs285207 was related to a decreased ALL risk (adjusted OR = 0.78; 95% CI = 0.63-0.97, P = 0.022) in the dominant model. The associations of rs285207 with ALL risk appeared stronger in patients with pre B ALL (adjusted OR=0.56; 95% CI=0.38-0.84, P=0.004), with normal diploid (adjusted OR=0.73; 95% CI=0.57-0.95, P=0.017), with low risk (adjusted OR=0.68; 95% CI=0.49-0.94, P=0.021), with lower WBC (adjusted OR=0.62; 95% CI=0.43-0.87, P=0.007) or lower platelet level (adjusted OR=0.76; 95% CI=0.59-0.96, P=0.023). With FPRP analysis, the significant association between the rs285207 polymorphism and decreased ALL risk was still noteworthy (FPRP=0.128). Functional analysis showed that IKZF1 bound to DNA motif overlapping rs285207 and had a higher preference for the risk allele A. As for rs285162 C>T and rs2070235 A>G, no significant was found between them and ALL risk.ConclusionIn this study, we revealed that rs285207 polymorphism decreased the ALL risk in children, and rs285207 might alter the binding to IKZF1, which indicated that the MYBL2 gene polymorphism might be a potential biomarker of childhood ALL.

Project description:BackgroundOne of the major postoperative complications of esophageal cancer is acute respiratory distress syndrome (ARDS), which poses a great threat to patients' lives. In this research, the cause of ARDS after esophageal cancer surgery was explained from the aspect of the single-nucleotide polymorphism at rs7873784, rs10759930 and rs10983755 of the Toll-like receptor 4 (TLR4) gene.MethodsA total of 75 patients complicated with ARDS after esophageal cancer surgery in our hospital were collected as the ARDS group and 150 patients without ARDS after surgery as the control group. Deoxyribonucleic acids (DNAs) in the peripheral blood of patients were extracted, and the polymorphism loci (rs7873784, rs10759930 and rs10983755) of the TLR4 gene were amplified through polymerase chain reaction (PCR) and sent to a company for sequencing. The concentration of serum TLR4 was detected by kits.ResultsThe frequencies of the G allele at rs7873784 (P=0.011) and C allele at rs10759930 (P=0.000) in the ARDS group were remarkably lower than those in the control group. Besides, the frequencies of GG genotype at rs7873784 (P=0.000) and CC and CT genotypes at rs10759930 (P=0.000) in the control group were notably higher than those in the ARDS group, while the frequency of AA genotype at rs10983755 (P=0.001) in the ARDS group was clearly lower than that in control group. The survival status of patients with complications of ARDS was notably correlated with CT genotype at rs10759930 of the TLR4 gene since patients with genotype CT were more likely to die (P=0.001). The GG genotype at rs10983755 of the TLR4 gene was remarkably related to the mean mechanical ventilation time (P=0.003) and the average length of intensive care unit (ICU) stay (P=0.018). The ARDS group had a lower frequency of GCG haplotype (P=0.009) and a higher frequency of GTA haplotype (P=0.001) than the control group. The linkage disequilibrium D' was 0.781 between rs7873784 and rs10759930 of the TLR4 gene, and two loci were linked to each other. In addition, the concentration of serum TRL4 in patients with genotype CC at rs7873784 (P=0.034), genotype CT at rs7873784 (P=0.000) and genotype GG at rs10983755 (P=0.000) of the TLR4 gene in the ARDS group was higher than that in the control group.ConclusionThe single-nucleotide polymorphisms at rs7873784, rs10759930 and rs10983755 of the TLR4 gene are significantly related to ARDS after esophageal cancer surgery.

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Correlation between survivin polymorphism and acute leukemia of children.

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Correlation between survivin polymorphism and acute leukemia of children.

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