Association of strong risk of hTERT gene polymorphic variants to malignant glioma and its prognostic implications with respect to different histological types and survival of glioma cases.

Autor: Pandith, Arshad A., Wani, Zahoor A., Qasim, Iqbal, Afroze, Dil, Manzoor, Usma, Amin, Ina, Baba, Shahid M., Koul, Aabid, Anwar, Iqra, Mohammad, Fozia, Bhat, Abdul R., Shah, Parveen
Zdroj: Journal of Gene Medicine; Nov2020, Vol. 22 Issue 11, p1-9, 9p
Abstrakt: Background: Germline genetic variants of human telomerase reverse transcriptase (hTERT) are known to predispose for various malignancies, including glioma. The present study investigated genetic variation of hTERT T/G (rs2736100) and hTERT G/A (rs2736098) with respect to glioma risk. Methods: Confirmed cases (n = 106) were tested against 210 cancer‐free healthy controls by the polymerase chain reaction‐restriction fragment length polymorphism technique for genotyping. Results: Homozygous variant 'GG' genotype of rs2736100 frequency was > 4‐fold significantly different in cases versus controls (39.6% 17.2%; p < 0.0001). Furthermore, variant 'G' allele was found to be significantly associated with cases (0.5 versus 0.2 in controls; p < 0.0001). Homozygous variant rs2736098 'AA' genotype (35.8% versus 23.8%) and allele 'A' (0.49 versus 0.34) showed a marked significant difference in cases and controls, respectively (p < 0.05). In hTERT rs2736100, the GG genotype significantly presented more in higher grades and GBM (p < 0.0001). Furthermore, the GG variant of hTERT rs2736100 had a poor probability with respect to the overall survival of patients compared to TG and TT genotypes (log rank p = 0.03). Interestingly, two haplotypes of hTERT rs2736100/rs2736098 were identified as GG and GA that conferred a > 3‐ and 5‐fold risk to glioma patients respectively, where variant G/A haplotype was observed to have the highest impact with respect to glioma risk (p < 0.0001). Conclusions: The results of the present study indicate that hTERT rs2736098 and rs2736100 variants play an important role in conferring a strong risk of developing glioma. Furthermore, hTERT rs2736100 GG variant appears to play a role in the bad prognosis of glioma patients. Haplotypes GG and GA could prove to be vital tools for monitoring risk in glioma patients. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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