Analysis of ANRIL gene polymorphism rs4977574 association with kidney cancer development in Ukrainian population.

Volkogon, A. D.; Harbuzova, V. Yu.; Атаман, Олександр Васильович

doi:10.26641/2307-0404.2020.2.206360

Cited by 4 publications

(4 citation statements)

References 16 publications

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“…For instance, rs1333048 ( Figure 1 ) is a biomarker of breast cancer susceptibility, and it is associated with the risk of toxicity after chemotherapeutic drug (cisplatin) treatment in lung cancer patients [ 61 , 62 ]. Moreover, rs4977574 is associated with kidney cancer development in the Ukrainian population [ 63 ] while rs10757278 is associated with ANRIL expression levels and cisplatin resistance in cancer [ 58 , 61 ] ( Figure 1 ). The GTEX track of the UCSC Genome Browser shows that CDKN2B-AS1 has the highest median expression in the colon and small intestine.…”

Section: Resultsmentioning

confidence: 99%

LncRNA-Associated Genetic Etiologies Are Shared between Type 2 Diabetes and Cancers in the UAE Population

Giordo

Gulsha

Kalla

et al. 2022

Cancers

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Numerous epidemiological studies place patients with T2D at a higher risk for cancer. Many risk factors, such as obesity, ageing, poor diet and low physical activity, are shared between T2D and cancer; however, the biological mechanisms linking the two diseases remain largely unknown. The advent of genome wide association studies (GWAS) revealed large numbers of genetic variants associated with both T2D and cancer. Most significant disease-associated variants reside in non-coding regions of the genome. Several studies show that single nucleotide polymorphisms (SNPs) at or near long non-coding RNA (lncRNA) genes may impact the susceptibility to T2D and cancer. Therefore, the identification of genetic variants predisposing individuals to both T2D and cancer may help explain the increased risk of cancer in T2D patients. We aim to investigate whether lncRNA genetic variants with significant diabetes and cancer associations overlap in the UAE population. We first performed an annotation-based analysis of UAE T2D GWAS, confirming the high prevalence of variants at or near non-coding RNA genes. We then explored whether these T2D SNPs in lncRNAs were relevant to cancer. We highlighted six non-coding genetic variants, jointly reaching statistical significance in T2D and cancer, implicating a shared genetic architecture between the two diseases in the UAE population.

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Section: Resultsmentioning

confidence: 99%

LncRNA-Associated Genetic Etiologies Are Shared between Type 2 Diabetes and Cancers in the UAE Population

Giordo

Gulsha

Kalla

et al. 2022

Cancers

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“…Therefore, regional studies are of particular interest today. As for residents of the Sumy Oblast, Ukraine, active research is being conducted on specific genetic markers of acute coronary syndrome [20,21], ischemic stroke [22], diabetes mellitus [23], and tumors of the genitourinary system [24,25], including benign diseases of the female reproductive system [26]. The relevance of our study is attributable to the lack of research on the role of estrogen receptor alpha gene polymorphisms in the development of EHP in the Sumy Oblast, as well as to the high frequency of EHP and the high risk of EHP transformation into a malignant process.…”

Section: Discussionmentioning

confidence: 99%

Pvuii (Rs2234693) Polymorphism of the Estrogen Receptor Alpha Gene in Women From Sumy Oblast, Ukraine, With Endometrial Hyperplastic Process

Tsyndrenko,

Romaniuk

2024

EUMJ

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Introduction. The endometrial hyperplastic process is an estrogen-dependent benign condition of the uterus, which is frequently a cause of infertility, ovarian-menstrual cycle disorders, and malignant transformation into uterine cancer. The effect of estrogen on the endometrium is realized through the estrogen receptor alpha. It is manifested by a whole range of biological changes, including cell reproduction and growth, tissue development, etc. Estrogen receptor alpha is encoded by the ESR1 gene, which is located on chromosome 6q25 and has eight exons and seven introns. Today, about 9,000 polymorphisms of the ESR1 gene have been described, some of which are associated with gene activity changes. Such functional polymorphisms include the PvuII polymorphism (rs2234693), which occurs due to the substitution of thymine (T) for cytosine (C) in the first intron of the gene. Objective. The purpose of this study was to assess the frequency of allelic variants of the estrogen receptor alpha gene for the PvuII polymorphism in patients with endometrial hyperplastic process living in the Sumy Oblast of Ukraine and to study its relationship with the histological variant of endometrial hyperplastic process, anthropometric parameters, age categories, medical history, and concomitant diseases. Materials and Methods. Genomic DNA was isolated from blood samples of 95 women with endometrial hyperplastic processes and 80 healthy women. The rs2234693 polymorphism was studied using a polymerase chain reaction with subsequent restriction fragment length polymorphism analysis (PCR-RFLP). The data were processed and statistically analyzed with Microsoft Excel and SPSS Statistics 29.0 for Windows software package. Descriptive statistics, Student's test, ANOVA method, and Pearson's chi-squared test were used in this study. Results with P < 0.05 were considered statistically significant. Results. The distribution of genotype variants for the PvuII polymorphism of the ESR1 gene in women with endometrial hyperplastic process was: homozygotes for the major allele (T/T) – 31.6%, heterozygotes (T/C) – 49.5%, homozygotes for the minor allele (C/C) – 18.9%; in the control group, these values were 30%, 52.5%, and 17.5%, respectively. There was no difference in the distribution of genotypes in patients with endometrial hyperplastic processes and healthy women (χ2 = 0.163, P = 0.922). No associations were found between the PvuII polymorphism and the histological variant of endometrial hyperplastic processes (χ2 = 4.14, P = 0.387), anthropometric parameters (P > 0.05), age (χ2 = 2.98, P = 0.560), medical history (P > 0.05), or concomitant genital and extragenital conditions (P > 0.05). Conclusions. There was no difference in the distribution of T/T, T/C, and C/C genotypes for the PvuII polymorphism in the estrogen receptor alpha gene between patients with endometrial hyperplastic process and the control group. There was no correlation between the genotype variant for the studied polymorphism and the histological variant of the endometrial hyperplastic process, anthropometric parameters, age, medical history, concomitant genital and extragenital conditions in patients of the Sumy Oblast, Ukraine.

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“…Several studies have reported the significance and the possible roles of lncRNA ANRIL in cancer development mechanisms. ANRIL is demonstrated to enhance in multiple cancers and diseases, including hepatocellular carcinoma [ 21 ], esophageal SCC [ 22 ], bladder cancer [ 23 ], prostate cancer [ 16 ], kidney malignancies [ 24 ], lung cancer [ 25 ], OSCC [ 12 ], and so forth [ 26 ]. This lncRNA seems to take part in cancer progression through various mechanisms, including epithelial–mesenchymal transition (EMT) [ 27 ], enhancement of cell proliferation [ 12 ], migration, and invasion, and eventually ceasing cell apoptosis [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

Allelic and Genotypic Analysis of LncRNA ANRIL rs4977574 A/G Mutations in Oral Squamous Cell Carcinoma Patients: Insights into Tumor Characteristics and Genotypic Correlations

Amiri,

Mokhtari

et al. 2023

International Journal of Dentistry

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Aim. Long noncoding RNAs (lncRNA) ANRIL and its genetic polymorphisms are shown to be associated with the risk of several cancers. However, the single nucleotide polymorphisms (SNPs) of lncRNA ANRIL are not thoroughly assessed in oral squamous cell carcinoma (OSCC) which is the most prevalent cancer in the head and neck area. Thus, this study aimed to assess the association of SNP of lncRNA ANRIL rs4977574 in patients with OSCC. Methods and Materials. 106 blood samples from the patients with OSCC were obtained with a gender- and age-matched control group to evaluate the SNP of rs4977574 of lncRNA ANRIL. The DNA was extracted using the salt-out technique and DNA genotyping was undertaken using specific primer pairs in the tetra-primer ARMS-PCR technique. Eventually, the frequency of wild-type (A) and the mutated allele (G), as well as the genotypes were estimated between the groups of patients with OSCC and healthy individuals. Results. The results of our study indicated no statistically significant difference in the frequency of rs4977574 A/G of lncRNA ANRIL among the patients with OSCC and healthy individuals ( p > 0.05 ). Likewise, no significant difference was found in the genotypes’ frequencies ( p > 0.05 ). Nevertheless, the marked association of GG with smaller tumor size and the high level of differentiation of OSCC cells in the presence of AA or AG genotypes were interesting outcomes of this study ( p < 0.05 ). Similarly, all the genotypes AA, AG, and GG were correlated with the site of the occurrence of OSCC. Furthermore, the association of the genotypes with the lymph node metastasis and the tumors stage was not found to be significant ( p > 0.05 ). Conclusions. The results of our study indicate that rs4977574 A/G and its genotypes do not have any direct correlation with the presence of OSCC; however, its association with the smaller tumor size and the level of the cancer cells differentiation could imply its possible indirect role.

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Analysis of ANRIL gene polymorphism rs4977574 association with kidney cancer development in Ukrainian population.

Cited by 4 publications

References 16 publications

LncRNA-Associated Genetic Etiologies Are Shared between Type 2 Diabetes and Cancers in the UAE Population

LncRNA-Associated Genetic Etiologies Are Shared between Type 2 Diabetes and Cancers in the UAE Population

Pvuii (Rs2234693) Polymorphism of the Estrogen Receptor Alpha Gene in Women From Sumy Oblast, Ukraine, With Endometrial Hyperplastic Process

Allelic and Genotypic Analysis of LncRNA ANRIL rs4977574 A/G Mutations in Oral Squamous Cell Carcinoma Patients: Insights into Tumor Characteristics and Genotypic Correlations

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