RGD Reference Report - N-Acetyltransferase 2 (NAT2) polymorphism as a risk modifier of susceptibility to pediatric acute lymphoblastic leukemia. - Rat Genome Database

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N-Acetyltransferase 2 (NAT2) polymorphism as a risk modifier of susceptibility to pediatric acute lymphoblastic leukemia.

Authors: Kamel, AM  Ebid, GT  Moussa, HS 
Citation: Kamel AM, etal., Tumour Biol. 2015 Aug;36(8):6341-8. doi: 10.1007/s13277-015-3320-7. Epub 2015 Mar 25.
RGD ID: 11532767
Pubmed: PMID:25804798   (View Abstract at PubMed)
DOI: DOI:10.1007/s13277-015-3320-7   (Journal Full-text)

N-Acetyltransferases (NAT) have been known to modify the risk to a variety of solid tumors. However, the role of NAT2 polymorphism in risk susceptibility to childhood acute lymphoblastic leukemia (ALL) is still not well known. We performed a case-control study to determine if the common NAT2 polymorphisms play a role in altering susceptibility to pediatric ALL. DNA of 92 pediatric ALL patients and 312 healthy controls was analyzed for the NAT2 polymorphisms using the PCR-RFLP method. The wild-type NAT2*4 was encountered in 8.6 % of patients versus 11.8 % of controls (P = 0.23). The rapid acetylators NAT2*12 803A>G, AG, GG, and AG/GG were overrepresented in controls (P = 0.0001; odds ratio (OR) 0.22, 0.19, and 0.21 respectively). NAT2*5D 341T>C and NAT2*11A 481C>T were of comparable frequencies. For their combination, NAT2*5A, a slow acetylator, both TCTT and CCCT were overrepresented in patients (P < 0.001; OR 15.8 and 17.9 respectively). NAT2*5B (803A>G, 341T>C, 481C>T) was overrepresented in controls (P < 0.001; OR 0.12). Apparently, 803A>G ameliorated the combined effect of 341T>C and 481C>T. A similar effect was obtained with NAT2*5C (341T>A, 803A>G) (P < 0.0001; OR 0.11). For slow acetylator NAT2*7A 857G>A, GA and GA/AA were overrepresented in patients (P = 0.009 and 0.01; OR 2.74 and 2.72 respectively). NAT2*13 282C>T, NAT2*6B 590G>A, and NAT2*14A 191G>A were of comparable frequencies. NAT2 282C>A in combination with NAT2 857G>A (NAT2*7B) showed a synergistic effect in patients versus controls (P < 0.0001; OR 3.51). In conclusion, NAT2 gene polymorphism(s) with slow acetylator phenotype is generally associated with the risk of development of ALL in children.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
acute lymphoblastic leukemia susceptibilityIAGP 11532767DNA:polymorphisms: :RGD 
acute lymphoblastic leukemia susceptibilityISONAT2 (Homo sapiens)11532767; 11532767DNA:polymorphisms: :RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nat2  (N-acetyltransferase 2)

Genes (Mus musculus)
Nat2  (N-acetyltransferase 2 (arylamine N-acetyltransferase))

Genes (Homo sapiens)
NAT2  (N-acetyltransferase 2)


Additional Information