Differential Allelic Distribution of V-ets Erythroblastosis Virus E26 Oncogene Homolog2 (ETS2) Functional Polymorphisms in Different Group of Patients
V-ets erythroblastosis virus E26 oncogene homolog2 (ETS2), located at chromosome 21 and overexpressed in Down's syndrome (DS), has known cancer regulatory functions. Because leukemia is of common occurrence in DS subjects while solid tumors are rare, we have explored the role of ETS2 functional...
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Published in: | Gene expression Vol. 15; no. 2; pp. 61 - 73 |
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Main Authors: | , , , , , , , , , |
Format: | Journal Article |
Language: | English |
Published: |
Elmsford, NY
Cognizant Communication Corporation
01-02-2011
Xia & He Publishing |
Subjects: | |
Online Access: | Get full text |
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Summary: | V-ets erythroblastosis virus E26 oncogene homolog2 (ETS2), located at chromosome 21 and overexpressed in Down's syndrome (DS), has known cancer regulatory functions. Because leukemia is of common occurrence in DS subjects while solid tumors are rare, we have explored the role of ETS2
functional genetic polymorphisms in this differential oncological development. In silico methods were used for identifying deleterious SNPs, tagged SNPs, and linkage disequilibrium followed by genotyping of 14 SNPs in Indo-Caucasoid individuals (N = 668). Significantly different allelic
frequencies for rs457705, rs1051420, and rs1051425 were observed in Indian controls (N = 149) compared to other ethnic groups. A heterozygous "T" insertion, between chromosomal contig positions 40195541 and 40195542, was observed in DS subjects and their parents. rs461155
showed significant allelic and genotypic association in breast and oral cancer patients. Significantly higher occurrence of G-C haplotype (rs461155-rs1051425) was also observed in these patients compared to DS and leukemic patients. This is the first report on this type of allelic discrimination
pattern of ETS2 under different disease conditions. From the data obtained it may be proposed that allelic discrimination of deleterious SNPs in ETS2 may play a regulatory role in the differential development of malignancy in DS subjects. |
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Bibliography: | 1052-2166(20110201)15:2L.61;1- ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Article-2 ObjectType-Feature-1 Present address: Dongguk University, School of Medicine, Department of Anatomy, Gyeongju, South Korea. |
ISSN: | 1052-2166 1555-3884 |
DOI: | 10.3727/105221611X12973615737541 |