Mutational analysis of Erythropoietin gene and its enhancer in anemic cancer patients
Journal Title: Scholars Journal of Applied Medical Sciences - Year 2014, Vol 2, Issue 3
Abstract
Abstract: Erythropoietin (Epo) is a crucial hormone which binds to a cell surface receptor, triggers a set of downstream genes and plays a role in the feedback mechanism involved in correcting cellular hypoxic situation in anemic cancer patients. Mutational status of Epo gene and its enhancer were scrutinized to understand the association between genetic aspects and susceptibility of cancer patients to anemia. PCR followed by SSCP and sequencing was carried out to analyze the mutational status of 225 anemic cancer patients and 130 healthy controls. Odds ratio (OR), Chi square test (χ2), 95% confidence intervals (CI) and relative risk (RR) were analyzed by Medcalc statistical software. Out of 225 cancer patients with anemia, 16 cases showed positive for acceptor splice site deletion mutation at intron2/exon3 junction and deletion of ‘Adenine’ at nucleotide 14 of exon 3 (at position 100,319,598) of Epo gene. Statistically, anemic patients carrying the mutation had 9.8 folds increased risk (OR-9.87; CI: 1.29- 75.35; p=0.02; RR-9.24). In Epo enhancer region, homozygous transition mutation (C/G to T/A) was observed 23bp upstream of hypoxia responsive element (HRE) in 31 patients, 2 controls and prevalence was highest in cervical cancers (70.96%). Anemic cancer patients carrying homozygous C/T mutation had 10.2 times increased risk of predisposition to higher anemic grades. (OR-10.22; CI: 2.40- 43.47; p=0.001; χ2 =13.22; RR- 8.95). Though these mutations exert negative effect, their direct effect on hemoglobin and Epo levels seems to be minimal. We hypothesize from our findings that genetic predisposition can hasten individuals from developing anemia and that variations in the genetic status can predispose cancer patients to develop different grades of anemia. Keywords: Erythropoietin, Mutations, Hypoxia, Cancer.
Authors and Affiliations
Kalyani P, Kaiser Jamil, Kirmani N, Nagalakshmi K, Mohan Reddy N, Archana .
Keywords
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