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Association between functional TERT promoter polymorphism rs2853669 and cervical cancer risk in South Indian women.

ABSTRACT: A single nucleotide polymorphism (SNP) rs2853669 (A>G) in the telomerase reverse transcriptase (TERT) promoter has recently been reported in chr5:1,295,349 T>C (T349C), and was shown to be associated with increased cancer risk and poor survival in a specific population. However, at present, the role of this particular SNP with TERT promoter driver mutations and its genetic association with human papilloma virus (HPV) in patients with cervical cancer has not been determined. In the present study, the genetic association of the functional SNP rs2853669 in the presence/absence of TERT promoter hotspot mutations and HPV in patients with cervical cancer of South Indian origin was evaluated. To understand and compare the frequency of the variant allele and its risk association in different cancer types of various populations, the SNP was genotyped in 257 cervical cancer samples and 295 controls, and its associations with TERT promoter hotspot mutations and HPV were analyzed. Furthermore, an extensive search of previously published articles in PubMed, Embase and Web of Science was conducted; a meta-analysis was carried out to elucidate the association of the SNP with different cancer types in global populations. The SNP analysis showed significantly high frequency (41%) of homozygous variant allele rs2853669 (GG) in patients with cervical cancer compared with control samples [Recessive allele model odds ratio (OR)=1.71; 95% CI=1.20-2.43; P=0.003]. No significant interaction was observed between the TERT SNP rs2853669 and HPV status as well as other hotspot TERT promoter (C228T and C250T) mutations determined in our previous study. In addition, the overall meta-analysis revealed a significant association of the SNP rs2853669 with other cancer types in different ethnic populations (OR=1.09; 95% CI=1.03-1.16; P=0.004). The present results suggested that the TERT SNP rs2853669 could play an important role in the risk of cervical cancer in a South Indian population.

SUBMITTER: Vinothkumar V

PROVIDER: S-EPMC7087481 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Association between functional TERT promoter polymorphism rs2853669 and cervical cancer risk in South Indian women.

Vinothkumar Vilvanathan V Arun Kanagaraj K Arunkumar Ganesan G Revathidevi Sundaramoorthy S Ramani Rajendren R Bhaskar Lakkakula V K S LVKS Murugan Avaniyapuram Kannan AK Munirajan Arasambattu Kannan AK

Molecular and clinical oncology 20200226 5

A single nucleotide polymorphism (SNP) rs2853669 (A>G) in the telomerase reverse transcriptase (TERT) promoter has recently been reported in chr5:1,295,349 T>C (T349C), and was shown to be associated with increased cancer risk and poor survival in a specific population. However, at present, the role of this particular SNP with TERT promoter driver mutations and its genetic association with human papilloma virus (HPV) in patients with cervical cancer has not been determined. In the present study, ...[more]

PMID: 32257207

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Project description:One of the markers of aging is lymphocyte telomere length (LTL), which is affected by genetic constitution of the organism and environmental conditions, such as development and diseases, including diabetes. The relationship of the later seems to be bilateral. The enzyme responsible for the maintenance of telomere length is a subunit of telomerase-telomerase reverse transcriptase (TERT). The aims of the present study were to (1) determine the influence of the TERT promoter sequence SNP variants on relative telomere length (RTL) in an elderly Polish population and (2) explore the potential associations of the SNPs with the type 2 diabetes mellitus (T2DM) in the obese individuals. Two highly homogenous subgroups of PolSenior participants were investigated, the first constituted 70 relatively healthy respondents and the second 70 individuals with T2DM. Telomere length ratio (T/S value) was measured; 1.5 kb part upstream of the transcription start site of the TERT promoter was sequenced, and the frequencies of polymorphisms were calculated and compared against analysed data. Low-frequency SNPs were evaluated but excluded from further comparative analyses to RTL and glucose metabolism markers. No significant difference in telomere length was found between the two studied subgroups. Univariate statistical analyses showed only a weak association of environmental or genetic factors altering this marker of aging. Approximate frequency of four SNPs in TERT promoter sequence was assessed in Polish population aged 65-95 years, but three of them (rs2735940, rs7712562 and rs2853669) were selected for further analyses. The SNP selection was based on their minor allele frequencies in general population and on published data. The univariate analysis has revealed that carriers of CC SNP (rs2853669) have had the shortest RTL in the T2DM group. Multivariate analysis has also revealed that the genetic effect of TERT promoter CC SNP was strengthened by the incidence of T2DM. The additional variation in RTL in paired groups indicates that in addition to T2DM and genetics, there are other factors contributing to development of the age-related diseases.

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Association between functional TERT promoter polymorphism rs2853669 and cervical cancer risk in South Indian women.

Publications

Association between functional TERT promoter polymorphism rs2853669 and cervical cancer risk in South Indian women.

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