Association between interleukin-3 receptor alpha polymorphism and schizophrenia in the Chinese population
NEUROSCIENCE LETTERS
Authors: Sun, Shilong; Wang, Fan; Wei, Jun; Cao, Lian Yuan; Wu, Gui Ying; Lu, Lin; Kosten, Therese A.; Kosten, Thomas R.; Zhang, Xiang Yang
Abstract
Schizophrenia has been observed to be associated with various abnormalities in cytokines and cytokine receptors. Three very recent reports showed the evidence that the IL3 gene, colony stimulating factor 2 receptor alpha (CSF2RA), beta (CSF2RB) and IL-3 receptor alpha (IL3RA), the IL-specific receptor sub-units for CSF2 and IL3, respectively, are associated with schizophrenia. To examine the association of the IBRA polymorphism (rs6603272) with schizophrenia in a Chinese population, 310 physically healthy patients with schizophrenia were compared with 330 age-, sex-matched normal controls. Statistically significant differences were observed in both allelic and genotypic frequencies of the rs6603272 polymorphism (Allele, chi(2) = 6.24, d.f. = 1, p =0.013, odds ratio (OR)= 1.35, 95% Cl 1.07-1.71; Genotype, chi(2) = 6.85, d.f. = 2, p = 0.033). Our results indicate a small but significant contribution of the IBRA polymorphism to susceptibility to schizophrenia, suggesting that the IL3 pathway may be involved in schizophrenia. (C) 2008 Elsevier Ireland Ltd. All rights reserved.
High frequency of intermediate and poor risk copy number abnormalities in pediatric cohort of B-ALL correlate with high MRD post induction
LEUKEMIA RESEARCH
Authors: Singh, Minu; Bhatia, Prateek; Trehan, Amita; Varma, Neelam; Sachdeva, Manupdesh Singh; Bansal, Deepak; Jain, Richa; Naseem, Shano
Abstract
Copy number abnormalities (CNAs) and recurrent fusion transcripts are important genetic events which define and prognosticate B-Cell Acute Lymphoblastic Leukemia (B-ALL). We evaluated CNAs and fusion transcripts in 67 pediatric B-ALL cases and correlated the data with standard risk factors and early treatment outcome parameters. Common fusion transcripts ETV6-RUNX1, E2A-PBX, BCR-ABL1 and MLL-AF4 were examined by RT-PCR and noted in 15%, 15%, 13% and 1.4% of all cases respectively. CNAs in IKZE1, PAX5, EBF1, BTG1, RB1, CDKN2A/B and genes from PAR1 region viz., CSF2RA, IL3RA, P2RY8, SHOX region and CRLF2 were analyzed by multiplex ligation dependent probe amplification assay and were detected in 70% (47/67) of cases, with predominantly deletions in CDKN2A/B (36%), PAX5 (18%) and IKZE1 (16%). A statistically significant association of intermediate/poor risk CNAs was noted with high WBC count (p = 0.001), NCI group (p = 0.02) and minimal residual disease at Day35 (p < 0.0001). IKZE1 and CDKN2A/B deletion revealed poor EFS of 56% at 24 months as compared to EFS of 80% in rest of the cases (p = 0.05) suggesting their potential role in early risk stratification.