Long non‑coding RNA PAX8‑AS1 polymorphisms increase the risk of childhood acute lymphoblastic leukemia

Bahari,Gholamreza; Hashemi,Mohammad; Naderi,Majid; Sadeghi‑Bojd,Simin; Taheri,Mohsen

doi:10.3892/br.2017.1028

Long non‑coding RNA PAX8‑AS1 polymorphisms increase the risk of childhood acute lymphoblastic leukemia

Authors:
- Gholamreza Bahari
- Mohammad Hashemi
- Majid Naderi
- Simin Sadeghi‑Bojd
- Mohsen Taheri
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Affiliations: Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan 98167‑43181, Iran, Department of Pediatrics, School of Medicine, Zahedan University of Medical Sciences, Zahedan 98167‑43181, Iran, Genetics of Non‑Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan 98167‑43181, Iran
Published online on: December 13, 2017 https://doi.org/10.3892/br.2017.1028
Pages: 184-190

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Abstract

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.

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