RE: Comment On: Association of HOTAIR rs1899663 G>T Polymorphism with Colorectal Cancer in the Turkish Population: A Case-Control Study.
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SUBMITTER: Yalınbas Kaya B
PROVIDER: S-EPMC10441144 | biostudies-literature | 2023 Jul
REPOSITORIES: biostudies-literature
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RE: Comment On: Association of HOTAIR rs1899663 G>T Polymorphism with Colorectal Cancer in the Turkish Population: A Case-Control Study.
Yalınbaş Kaya Berrin B Peker Betül B Tuğrul Fuzuli F Alkan Tali Özge Ö Bayram Süleyman S
The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 20230701 7
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Project description:BackgroundLong noncoding RNAs increase the overexpression of oncogenes. Cancer development and metastasis of cancer may occur as a result of overexpression of oncogenes. Polymorphisms in the genes (such as HOTAIR, etc.) in which long noncoding RNAs are synthesized affect the expression of these genes. Therefore, these polymorphisms may play a role in cancer development and cancer metastasis. The present study aimed to evaluate the association between HOTAIR gene rs1899663 G>T polymorphism with colorectal cancer.MethodsThe current study examined the HOTAIR gene rs1899663 G>T polymorphism in 100 patients with colorectal cancer and 93 healthy persons by a real-time polymerase chain reaction.ResultsThe G and T allele frequencies of the HOTAIR rs1899663 polymorphism were significantly different between the case and control groups (P = .01). The persons carrying the G allele had a protective effect against colorectal cancer, while individuals carrying the T allele were predisposed to colorectal cancer (P = .001). Four of 5 colorectal cancer recurrence patients had the TT genotype (P = .02).ConclusionThis research is the first to demonstrate the relationship between colorectal cancer and the HOTAIR gene rs1899663 polymorphism in the Turkish population, which is a Caucasian population. Our results suggest that the rs1899663 G allele has a protective role for colorectal cancer in the Turkish population. However, it would be appropriate to conduct this research with a larger sample to confirm this result in the Turkish population.
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Project description:BackgroundCytochrome P450 2J2 is mostly expressed in extrahepatic tissues; it metabolizes arachidonic acid to epoxyeicosatrienoic acids, with various cardio protective and anti-inflammatory effects. CYP2J2 polymorphism has been identified as a risk factor for cardiovascular diseases, but its association with psoriasis remains unknown.ObjectiveTo evaluate CYP2J2 polymorphism as a risk factor for psoriasis in the Turkish population.MethodsThere were 94 patients with psoriasis and 100 age- and sex-matched healthy controls included in the study. Detailed demographic and clinical characteristics were recorded, and Psoriasis Area and Severity Index (PASI) scores were calculated for psoriasis patients. Venous blood samples were collected from all the participants and CYP2J2 50G>T (rs890293) polymorphism was analyzed using polymerase chain reaction (PCR).ResultsBoth T allele and TT+GT genotype frequencies were increased in psoriasis vulgaris patients compared to the control group (p=0.024 and p=0.029 respectively, OR=2.82, 95% CI: 1.11-7.15) No association between CYP2J2 polymorphism and clinical features of psoriasis was identified.Study limitationsA limited number of patients were included in the study.ConclusionCYP2J2 50G>T (rs890293) polymorphism was associated with an increased risk for PsV in the Turkish population.
| S-EPMC7058872 | biostudies-literature
Project description:BackgroundDespite the fact that numerous studies have investigated the association between genetic polymorphisms and colorectal cancer (CRC), more research is required to comprehend the molecular mechanisms of CRC. In the present study, we investigated the association between lncRNA HOTAIR rs2366152 and rs1899663 polymorphisms with CRC susceptibility in the Iranian population.MethodsThis case-control study consisting of 187 CRC patients and 200 healthy samples. The tetra-amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) technique was used for the genotyping of rs2366152 and rs1899663 polymorphisms.ResultsThe findings showed that the AG genotype of the rs2366152 polymorphism has a protective effect on CRC susceptibility (OR = 0.60, 95% CI: 0.38-0.94, p-value = 0.023). Furthermore, rs2366152 polymorphism associated with CRC risk in an over dominant inheritance model (p-value = 0.0089). According to the outcomes of the rs1899663 polymorphism, the GT genotype had protective effects on CRC risk (OR = 0.55, 95% CI: 0.35-0.86, p-value = 0.008). Moreover, statistical analysis has shown that the rs1899663 polymorphism was associated with CRC risk in dominant (p-value = 0.013) and overdominant (p-value = 0.0086) inheritance models in the Iranian population.ConclusionThis study confirmed that HOTAIR rs2366152 and rs1899663 polymorphisms associated with CRC risk in different inheritance models. It is indeed necessary to do additional research to verify our findings.
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Project description:Genetic polymorphism in long noncoding RNA (lncRNA) HOTAIR is linked with the risk and susceptibility of various cancers in humans. The mechanism involved in the development of CRC is not fully understood but single nucleotide polymorphisms (SNPs) can be used to predict its risk and prognosis. In the present case-control study, we investigated the relationship between HOTAIR (rs12826786, rs920778, and rs1899663) polymorphisms and CRC risk in the Saudi population by genotyping using a TaqMan genotyping assay in 144 CRC cases and 144 age- and sex-matched controls. We found a significant (p < 0.05) association between SNP rs920778 G > A and CRC risk, and a protective role of SNPs rs12826786 (C > T) and rs1899663 (C > A) was noticed. The homozygous mutant "AA" genotype at rs920778 (G > A) showed a significant correlation with the female sex and colon tumor site. The homozygous TT in SNP rs12816786 (C > T) showed a significant protective association in the male and homozygous AA of SNP rs1899663 (C > A) with colon tumor site. These results indicate that HOTAIR can be a powerful biomarker for predicting the risk of colorectal cancer in the Saudi population. The association between HOTAIR gene polymorphisms and the risk of CRC in the Saudi population was reported for the first time here.
| S-EPMC10047939 | biostudies-literature
Project description:Epidermal Growth factor (EGF) could induce colorectal cancer (CRC) cell to develop epithelial mesenchymal-transition and enhance their ability to invade and migrate. Several studies have thrown light on the association between EGF gene polymorphism and risk of CRC, but with conflicting results. Therefore, we determined EGF A61G polymorphism by using PCR-restriction fragment length polymorphism method in 341 CRC cases and 472 controls in a Chinese population. Our results showed that EGF A61G polymorphism increased the risk of CRC in a Chinese population (GG vs AA: adjusted OR: 1.92; 95% CI: 1.27-2.91; P=0.002; GG+AG vs AA: adjusted OR: 1.43; 95% CI: 1.05-1.94; P=0.022; GG vs AG+AA: adjusted OR: 1.65; 95% CI: 1.15-2.39, P=0.007; G vs A: OR: 1.39; 95% CI: 1.14-1.69, P=0.001). Stratified analyses revealed that the significant association was more evident in the females, smokers, drinkers, and old subjects (age ≥60 years). Furthermore, the GG and/or AG genotype carriers were more likely to have larger tumor size and lymph node metastasis. In conclusion, EGF A61G polymorphism is a genetic contributor to CRC in a Chinese Han population.
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Project description:BACKGROUND:Considerable interest is directed toward the enzyme aromatase (CYP19A1) and the development of cancer, due to CYP19A1's role in estrogen biosynthesis. Several cancers display excessive intra-tumor accumulation of estrogens, and aromatase inhibitors are used for treatment. The CYP19A1 gene exhibits polymorphism and mutations that can alter its expression or aromatase activity and influence estrogen production. We designed this study to investigate the link between CYP19A1 polymorphism and susceptibility to colorectal cancer (CRC) development in Saudis. PATIENTS AND METHODS:Blood samples from 100 CRC patients and 100 healthy controls were drawn for DNA extractions. Three polymorphic sites, rs4774585, rs936308, and rs4775936, were genotyped using Taqman genotyping by real-time polymerase chain reaction. Allelic and genotype frequencies were calculated and compared in the two groups. RESULTS:All single nucleotide polymorphisms (SNPs) were polymorphic in Saudis, and comparison of allele frequencies showed several differences when compared to other populations. None of the SNPs were associated with the risk of CRC development in Saudis (P>0.05). Some gender and location (colon or rectal) differences were observed. DISCUSSION:The results of this study highlighted the genetic heterogeneity existing between populations in the prevalence of different SNPs and their relation to disease state. It showed that, although rs4774585, rs936308, and rs4775936 are involved in CRC development in several populations, their role is not significant in the etiology of CRC in Saudis; however, some SNPs do increase susceptibility or resistance to CRC development as judged from the odds ratio. Further large-scale studies are warranted to clarify the role of the CYP19A1 development in CRC.
| S-EPMC5604566 | biostudies-literature
Project description:The cell surface adhesion receptor CD44 reportedly affects the development and progression of cancers. Moreover, CD44 gene rs187115 polymorphism appears to be genetic determinant of cancer susceptibility. We investigated whether CD44 rs187115 polymorphism is associated with colorectal cancer (CRC) risk and prognosis. We enrolled 669 CRC cases and 826 controls in this three-center case-control study in a Chinese Han population. All individuals were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Cross-over analysis, multivariate logistic regression, Kaplan-Meier method, and Cox regression analysis were used for analysis. In this study, CD44 rs187115 polymorphism was associated with increased risk for CRC. Stratified analyses revealed that CD44 rs187115 polymorphism was correlated with increased risk for CRC in females, drinkers, smokers, and those aged ≥ 60 years. In addition, rs187115 polymorphism was significantly associated with TNM III+IV stage, lymph node metastasis and tumor size in CRC patients. Combined effects of CD44 rs187115 polymorphism (GG/AG vs. AA) and environmental factors (smoking and drinking) further increased the risk of CRC. GG genotype carriers showed poorer overall survival than AA genotype carriers. Cox regression analysis showed that drinking, CD44 rs187115 polymorphism, and TNM stage were independent prognostic factors affecting CRC. These findings show that CD44 rs187115 polymorphism may be a potential biomarker predictive of CRC susceptibility and prognosis.
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Project description:BackgroundLMTK3 and AKT1 each have a role in carcinogenesis and tumor progression. The analysis of single nucleotide polymorphisms of AKT1 and LMTK3 could lead to more complete and accurate risk estimates for colorectal cancer.AimWe evaluated the association between single nucleotide polymorphisms (SNPs) of AKT1 and LMTK3 and the risk of colorectal cancer in a case-control study in Moroccan population.MethodsGenomic DNA from 70 colorectal cancer patients and 50 healthy control subjects was extracted from whole blood. Genotyping was performed by direct sequencing after polymerase chain reactions for the 7 SNPs (AKT1rs1130214G/T, AKT1rs10138227C/T, AKT1rs3730358C/T, AKT1rs1000559097G/A, AKT1rs2494737A/T, LMTK3rs8108419G/A, and LMTK3rs9989661A/G.). Study subjects provided detailed information during the collection. All P values come from bilateral tests.ResultsIn the logistic regression analysis, a significantly high risk of colorectal cancer was associated with TC/TT genotypes of rs10138227 with adjusted odds ratio [OR] equal to 2.82 and 95% confidence interval [CI] of 1.15 to 6.91.ConclusionOur results suggest that the SNP AKT1rs10138227 could affect susceptibility to CRC, probably by modulating the transcriptional activity of AKT1. However, larger independent studies are needed to validate our results.
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Project description:ObjectiveTo explore the relationship between the omentin-1 gene rs2274907 A>T polymorphism and colorectal cancer (CRC) in the Chinese Han population.Methodsrs2274907 A>T was assessed by PCR-restriction fragment length polymorphism analysis. Plasma omentin-1 expression from 358 patients with CRC and 286 healthy controls was analyzed by enzyme-linked immunosorbent assay. CRC and control groups were divided into subgroups according to the body mass index (BMI) threshold of 25 kg/m2.ResultsNo significant differences were observed between CRC and control groups in terms of genotype or allele frequencies of rs2274907 A>T. Compared with individuals with BMI <25 kg/m2 and the rs2274907 TT genotype, those with AA+AT genotypes and BMI ≥25 kg/m2 had a 3.027-fold increased risk of CRC. A significant tendency toward a higher stage of colorectal adenocarcinomas and depth of invasion was observed in individuals with the rs2274907 AA genotype compared with other genotypes.ConclusionsThe omentin-1 gene rs2274907 A>T polymorphism does not seem to play a critical role in the development of CRC in the Chinese Han population, but an interaction between the rs2274907 A allele and BMI may increase the CRC risk. The rs2274907 AA genotype is a potential biomarker for CRC stage progression.
| S-EPMC8033482 | biostudies-literature
Project description:BackgroundLung cancer mortality is higher than other forms of cancer. Genetic tendencies in cancer patients have long been known. Given the link between A1ATD and numerous lung disorders, it is worth investigating if this genetic trait is linked to a higher risk of developing LC, as the lung is the most afflicted organ in individuals with severe A1ATD. This study is intended to investigate the possible association between AAT rs17580 and rs8004738 gene polymorphisms and susceptibility to non-small cell lung cancer for early prediction in Egyptians.MethodsA case-control study was performed on 124 NSCLC cases and 124 healthy controls from 2021 to 2022 in the oncology center of Mansoura University. Peripheral blood was used to obtain genomic DNA. ARMS-PCR was used to genotype SNPs and other chemical parameters. Windows SPSS Statistics was used to review, encode, and tabulate the acquired data.ResultsA molecular study for A1AT rs17580 and rs8004738 genotypes showed that NSCLC cases were significantly associated with a higher proportion of mutant S (T) and mutant Z (A) alleles (p = 0.042, 0.041, respectively). Different A1AT genotypes (MS, MZ, SS, SZ, and ZZ) showed no significant association with NSCLC or NLR.ConclusionS and Z alleles might have significant impacts on NSCLC risk and can be useful for detecting and protecting individuals who may be vulnerable to carcinogens. Further research with larger sample sizes is needed to confirm the current findings.
| S-EPMC10373285 | biostudies-literature