Association between 5'-UTR and 3'-UTR Polymorphisms of the TYMS Gene and Breast Cancer in Kurdish Women of Iraq.
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ABSTRACT: Materials and methods
DNA was extracted from EDTA-treated peripheral blood samples and included 100 patients affected by breast cancer and 100 controls. Genotyping was performed by PCR-electrophoresis.Results
Our results showed a significant association between 6bp deletion homozygote genotype in breast cancer patients compared to healthy individuals (P = 0.042). No significant differences were observed for other allelic and genotypic frequencies.Conclusion
This study, performed for the first time on the Kurdish population, highlighted the need for further studies of the TYMS gene polymorphisms.
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SUBMITTER: Mohamad KS
PROVIDER: S-EPMC8408396 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND AND OBJECTIVE:Insulin-like growth factor 1 (IGF1) gene three prime untranslated region (3'-UTR) polymorphisms have been reported to be associated with cancer risk. However, the conclusions of the relevant studies are not consistent. The present meta-analysis evaluates the relationship between IGF1 gene 3'-UTR polymorphisms (rs5742714, rs6214, and rs6220) and cancer risk. METHODS:Articles regarding the relationship between IGF1 rs5742714, rs6214, and rs6220 polymorphisms and cancer risk were selected by searching the PubMed, Embase, and Web of Science databases before April 30, 2018. Altogether, we obtained 34 case-controlled studies from 20 articles, including 21,568 cases and 31,199 controls. The strength of associations was quantified using odds ratios (ORs) and the corresponding 95% confidence intervals (CIs). RESULTS:In the present meta-analysis, no significant associations were detected between rs5742714, rs6214, and rs6220 and overall cancer risk. Thus, in stratified analyses, we found that rs6214 was associated with a significantly reduced risk of breast cancer under the allele, heterozygote, and dominant models (A vs G: OR, 0.94, 95% CI,0.88-1.00, P?=?.044; GA vs GG: OR, 0.88, 95% CI, 0.80-0.97, P?=?.012; AA?+?GA vs GG: OR, 0.89, 95% CI, 0.81-0.97, P?=?.011), as well as pancreatic cancer under the recessive model (AA vs GA?+?GG: OR, 0.68, 95% CI,0.53-0.87, P?=?.003). Also, rs6220 was associated with a significantly increased risk of breast cancer under the homozygote model (GG vs AA: OR, 1.23, 95% CI, 1.02-1.48, P?=?.031). In addition, rs6220 was found to increase overall cancer risk among Caucasians under the allele model (G vs A: OR, 1.06, 95% CI, 1.00-1.13, P?=?.043). CONCLUSIONS:In this meta-analysis, we investigated and reviewed the relationship between IGF1 gene 3'-UTR polymorphisms (rs5742714, rs6214, and rs6220) and cancer risk based on present epidemiological studies. Further studies are needed to draw more precise conclusions in the future.
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Project description:BackgroundBreast cancer is reported to cause the highest mortality among female cancer patients. Previous studies have explored the association of silent mating-type information regulator 2 homolog 1 (SIRT1) gene expression with prognosis in breast cancer. However, no studies exist, so far, on the role of SIRT1 gene polymorphism in breast cancer risk or prognosis. The present study aimed to assess the association between SIRT1 gene polymorphisms and breast cancer in Egyptians.MethodsThe study comprised 980 Egyptian females divided into a breast cancer group (541 patients) and a healthy control group (439 subjects). SIRT1 gene single nucleotide polymorphisms (SNPs) rs3758391, rs3740051 and rs12778366 were genotyped using real-time polymerase chain reaction (RT-PCR). Allelic and genotypic frequencies were determined in both groups and association with breast cancer and clinicopathological characteristics was assessed.ResultsBreast cancer patients exhibited elevated serum SIRT1 levels which varied among different tumor grades. SIRT1 rs3758391 and rs12778366 TT genotypes were more frequent, exhibited higher SIRT1 levels than CC and CT genotypes and were associated with histologic grade and lymph node status. SIRT1 rs12778366 TT genotype also correlated with negative estrogen receptor (ER) and progesterone receptor (PR) statuses. The T allele frequency for both SNPs was higher in breast cancer patients than in normal subjects. Combined GG and AG genotypes of rs3740051 were more frequent, showed higher serum SIRT1 levels than the AA genotype, and were associated with ER and PR expression. Furthermore, inheritance of the G allele was associated with breast cancer.ConclusionsOur findings reveal that rs3758391 and rs12778366 polymorphisms of SIRT1 gene are associated with breast cancer risk and prognosis in the Egyptian population.
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Project description:BackgroundAllergic rhinitis (AR) is the most common inflammatory disorder of the upper airway caused by aberrant immune responses to allergens in genetically predisposed individuals. Recently, the long noncoding RNA (lncRNA) antisense noncoding RNA in the INK4 locus (ANRIL) has been identified as a novel genetic factor associated with increased AR risk.ObjectivesThis study aimed to evaluate the potential correlation of ANRIL gene single nucleotide polymorphisms (SNPs) with AR risk in the Kurdish population of Kermanshah, Iran.MethodsIn this case-control study, 130 AR patients and 130 healthy controls were recruited to genotype for two SNPs of the ANRIL gene (rs1333048 and rs10757278) using the Tetra-primer amplification refractory mutation system polymerase chain reaction (T-ARMS-PCR) method.ResultsOur results showed no significant difference for the alleles and genotypes frequency distribution of lncRNA ANRIL SNPs (rs1333048 and rs10757278) between AR patients and healthy controls (p > 0.05). Additionally, the dominant, additive and recessive genetic models of both SNPs were not associated with altered susceptibility to AR risk (p > 0.05).ConclusionThe results demonstrated that the ANRIL gene rs1333048 and rs10757278 polymorphisms might not be associated with susceptibility to AR in the Kurdish population of Kermanshah, Iran.
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| S-EPMC2644736 | biostudies-literature
Project description:Objective: Previous genome-wide sequencing revealed that Ras-related protein Rab-5B (RAB5B) is a susceptible target in patients with polycystic ovary syndrome (PCOS).Methods: Direct sequencing was performed to analyze the RAB5B gene rs1045435, rs11550558, rs34962186, rs705700, rs58717357, rs11171718, rs60028217, rs772920 loci genotypes in 300 PCOS patients and 300 healthy controls. The plasma microRNA (miRNA)-24, miR-320 levels were measured by reverse transcription fluorescent quantitative PCR (RT-qPCR).Results: The risk of PCOS in C allele carriers of RAB5B gene rs1045435 locus was 3.91 times higher than that of G allele. The risk of PCOS in rs11550558 locus G allele was 4.09 times higher than A allele. The risk of PCOS in rs705700 locus C allele was 1.66 times greater than T allele. The risk of PCOS in rs11171718 locus A allele carrier was 3.84 times higher than G allele. The rs11550558 SNP was associated with PCOS risk only in those with age ≥ 31.1 years. And RAB5B gene rs11550558, rs1045435, and rs11171718 SNPs were significantly associated with PCOS risk only in subjects with BMI ≥ 23.8 kg/m2 We also found that the RAB5B gene rs1045435 SNP was associated with plasma miR-24 levels. The RAB5B gene rs11550558, rs705700, rs11171718 SNPs were correlated with plasma miR-230 levels.Conclusion: The single nucleotide polymorphisms of the rs1045435, rs11550558, rs705700, and rs11171718 loci of the RAB5B gene are associated with PCOS risk. The rs1045435 locus is likely an miR-24 binding site, while rs11550558, rs705700, and rs11171718 loci may be miR-320 binding sites.
| S-EPMC6522744 | biostudies-literature
Project description:BackgroundThymidylate synthase (TYMS) polymorphisms are reported to be related to susceptibility to some cancers. However, no study exists on TYMS polymorphisms and glioma risk. This study aimed to evaluate the relationship between two common TYMS gene variants (rs1059394 C>T, rs2847153 G>A) and glioma susceptibility.MethodsThis case-control study included 605 patients and 1300 cancer-free individuals. Genotyping was performed using Sequenom Mass-ARRAY. We determined odds ratios (ORs) and their 95% confidence intervals (CIs) to estimate the correlations.ResultsThe analysis revealed that rs1059394 TT and CT+TT genotype had significantly low glioma risk (TT to CC: OR = 0.71, 95% CI = 0.52-0.97, P = 0.03; CT+TT to CC: OR = 0.74, 95% CI = 0.55-0.99, P = 0.04). However, no significant difference was found between rs2847153 and glioma risk in any genetic model (P﹥0.05). In high-grade gliomas, the GA and GA+AA genotypes of rs2847153 made the majority of genotypes, compared with GG genotype (GA to GG: OR = 2.01, 95% CI = 1.39-2.91, P < 0.001; GA+AA to GG: OR = 1.78, 95% CI =1.25-2.54, P < 0.001). Moreover, online expression quantitative trait locus (eQTL) analysis indicated that these two polymorphisms may alter TYMS gene expression in transformed fibroblast cells.ConclusionOur study provides evidence of the effect of TYMS rs1059394 on the susceptibility of glioma. In high-grade gliomas, compared with GG genotype, the GA and GA+AA genotypes of rs2847153 comprise a larger proportion.
| S-EPMC6790345 | biostudies-literature
Project description:BackgroundPolycystic ovary syndrome (PCOS) is the known endocrinopathy disorder in the reproductive phase of women's life. More than half of the women with PCOS suffer from obesity which impacts the ovarian functions by leptin levels. Here the R223Q and P1019P polymorphisms of leptin receptor (LEPR) gene were examined in PCOS patients of Kurdish women from west of Iran.Materials and methodsIn this case-control study, one hundred women with PCOS and 100 healthy women bearing similar age range were selected based on Rotterdam diagnostic criteria. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to genotype polymorphisms LEPR (R223Q and P1019P), by respectively the BsaWI and NcoI restriction enzymes. Pearson's chi-square (χ2) test was used to analyze the variation in genetic distributions and unconditional logistic regression model was used to calculate the odds ratio (OR; 95% CI).ResultsGenotype frequencies of the R223Q and P1019P polymorphisms showed significant difference between the patients with PCOS compared to the controls. G allele (R223Q) reduced the risk of PCOS about 0.49-fold (P<0.001). While, T allele (P1019P) increased the risk of PCOS 2.69-fold (P<0.001).ConclusionIt can be concluded that the R223Q and P1019P polymorphisms showed a significant association with PCOS susceptibility risk. It seems that G allele (R223Q) with reducing OR had a protective effect on this syndrome, while T allele (P1019P) with increasing OR was a risk factor for PCOS.
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