Long non-coding RNA PAX8-AS1 polymorphisms increase the risk of childhood acute lymphoblastic leukemia
Long non-coding RNA PAX8-AS1 polymorphisms increase the risk of childhood acute lymphoblastic leukemia
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DOI：
10.3892/br.2017.1028
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发表时间：
2018-02-01
影响因子：
2.3
通讯作者：
Taheri, Mohsen
中科院分区：
文献类型：
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作者：
Bahari, Gholamreza;Hashemi, Mohammad;Taheri, Mohsen
为探讨PAX 8反义RNA 1（PAX 8-AS 1）基因多态性rs 4848320 C>T、rs6726151 T>G和rs 1110839 G>T与急性淋巴细胞白血病（ALL）发病风险的关系，对110例ALL患儿和120例健康儿童进行了病例对照研究。通过聚合酶链反应-限制性片段长度多态性方法进行基因分型。研究结果表明，rs 4848320变异增加共显性ALL的风险[CT vs. CC：OR =2.13，95% CI =1.16-3.90，P=0.014; TT vs. CC：OR=2.21，95% CI=1.03-4.74，P=0.041]，显性（CT+TT vs. CC：OR=2.15，95% CI=1.22-3.81，P=0.009）和等位基因（T vs. C：OR=1.55，95% CI=1.07-2.25，P=0.024）遗传模型。rs6726151变异在共显性（GT vs. GG：OR=1.88，95%CI =1.08-3.27，P=0.036）和超显性（GT vs. GG+TT：OR=2.08，95%CI =1.23-3.53，P=0.008）遗传模型中显著增加ALL的风险。rs 1110839 G>T变异与儿童ALL的疾病风险/保护之间没有显著关系。结论：PAX 8-AS 1基因rs 4848320和rs6726151多态性可能是儿童ALL发病的危险因素。现在需要更大样本量和不同种族的进一步研究来证实这些发现。
The present case-control study was conducted on 110 children with acute lymphoblastic leukemia (ALL) and 120 healthy children to determine the impact of polymorphisms in paired-box gene 8 (PAX8) antisense RNA 1 (PAX8-AS1), namely rs4848320 C>T, rs6726151 T>G and rs1110839 G>T, on ALL risk. Genotyping was performed through the polymerase chain reaction-restriction fragment length polymorphism method. The findings indicated that the rs4848320 variant increased the risk of ALL in codominant [CT vs. CC: odds ratio (OR)=2.13, 95% confidence interval (CI)=1.16-3.90, P=0.014; and TT vs. CC: OR=2.21, 95% CI=1.03-4.74, P=0.041], dominant (CT+TT vs. CC: OR=2.15, 95% CI=1.22-3.81, P=0.009,) and allele (T vs. C: OR=1.55, 95% CI=1.07-2.25, P=0.024) inheritance models. The rs6726151 variant significantly increased the risk of ALL in codominant (GT vs. GG: OR=1.88, 95% CI=1.08-3.27, P=0.036) and overdominant (GT vs. GG+TT: OR=2.08, 95% CI=1.23-3.53, P=0.008) inheritance models. No significant relationship was identified between the rs1110839 G>T variant and disease risk/protection in childhood ALL. In conclusion, the findings of the present study indicated that rs4848320 and rs6726151 polymorphisms of PAX8-AS1 may be a risk factor for the development of childhood ALL. Further studies with larger sample sizes and different ethnicities are now required to confirm these findings.