Role of 657del5 NBN mutation and 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B) and 14q11.2 (CEBPE) variation and risk of childhood ALL in the Polish population
作者： Agata Pastorczak , Patryk Górniak , Amy Sherborne , Fay Hosking , Joanna Trelińska
DOI: 10.1016/J.LEUKRES.2011.07.034
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摘要: Recent studies have shown that SNPs mapping to 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B), and 14q11.2 (CEBPE) carrier status for recessively inherited Nijmegen Breakage syndrome (NBS) influence childhood acute lymphoblastic leukemia (ALL) risk. To examine these relationship, we analysed 398 ALL cases 731 controls from Poland. Statistically significant association between genotype at (ARID5B) the NBS associated locus, 8q21.3 (NBN) risk was found; odds ratios (ORs), 1.34 (P = 0.002), 1.33 0.003), 1325.21 0.0028), respectively. These data provide further insights into biological basis of highlighting existence both common rare disease susceptibility variants. (C) 2011 Elsevier Ltd. All rights reserved.
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