title: Differential allelic distribution of V-ets erythroblastosis virus E26 oncogene homolog2 (ETS2) functional polymorphisms in different group of patients.
abstract: 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.
authors.affiliation: Manovikas Biomedical Research and Diagnostic Centre, MRIH, Kolkata, India.
authors.forename: Arpita
authors.initials: A
authors.lastname: Chatterjee
authors.forename: Samikshan
authors.initials: S
authors.lastname: Dutta
authors.forename: Sanjit
authors.initials: S
authors.lastname: Mukherjee
authors.forename: Nupur
authors.initials: N
authors.lastname: Mukherjee
authors.forename: Sharmila
authors.initials: S
authors.lastname: Chandra
authors.forename: Ashis
authors.initials: A
authors.lastname: Mukherjee
authors.forename: Swagata
authors.initials: S
authors.lastname: Sinha
authors.forename: Chinmay Kumar
authors.initials: CK
authors.lastname: Panda
authors.forename: Keya
authors.initials: K
authors.lastname: Chaudhuri
authors.forename: Kanchan
authors.initials: K
authors.lastname: Mukhopadyay
mesh_terms: D000465:Algorithms; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D015331:Cohort Studies; D019295:Computational Biology; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007194:India; D007938:Leukemia / Q000209:etiology / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D008969:Molecular Sequence Data; D010361:Patients; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D050787:Proto-Oncogene Protein c-ets-2 / Q000737:chemistry / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C494069:ETS2 protein, human; D050787:Proto-Oncogene Protein c-ets-2