scholarly journals rs2682818/miR-618 is a novel marker associated with increased risk of breast cancer in the Iranian population

2021 ◽  
pp. 39-39
Atefeh Najafian-Najafabady ◽  
Nasim Ebrahimi ◽  
Sadeq Vallian

The presence of single nucleotide variations in the coding region of micro-RNA (miRNA)- encoding genes plays a significant role in the expression and function of these molecules in oncogenesis and cancer. The association of rs2682818 in miR-618 with increased risk of breast cancer was investigated in the Iranian population. rs2682818/miR-618 was genotyped using amplification-refractory mutation system PCR (ARMS-PCR) in 200 healthy individuals and patients with breast cancer. The data revealed the presence of Hardy-Weinberg equilibrium (HWE) for this marker. The frequency of alleles C and A was 70% and 30%, respectively, in healthy individuals; the frequency of alleles C and A was 44% and 56%, respectively, in patients with breast cancer. Analysis of odd ratios showed that the rs2682818/miR-618 polymorphism is associated with increased probability of breast cancer and is statistically significant (OR=2.97, P=0.0003). The data suggest that rs2682818/miR-618 could be considered a novel marker of increased risk of breast cancer.

Saman SARGAZI ◽  
Shekoufeh MIRINEJAD ◽  
Mahdiyeh MOUDI ◽  

Background: KIF26B gene is found to play essential roles in regulating different aspects of cell proliferation and development of the nervous system. We aimed to determine if rs12407427 T/C polymorphism could affect susceptibility to schizophrenia (SZN) and breast cancer (BC), the two genetically correlated diseases. Methods: The current case-control study was performed from Aug 2018 to Dec 2018. Briefly, 159 female pathologically confirmed BC cases referring to Alzahra Hospital, Isfahan, Iran, and 102 psychologically confirmed SZN patients (60 males and 42 females) admitted to Baharan Hospital, Zahedan, Iran, were enrolled. Using the salting-out method, genomic DNA was extracted, and variants were genotyped using allele-specific amplification refractory mutation system polymerase chain reaction (ARMS-PCR) method. Results: The results revealed a significant association between the KIF26B rs12407427 codominant CT (P=0.001), CC (P=0.0001), dominant CT+CC, and recessive CC (P=0.001) genotypes with the risk of developing SZN. Significant correlations were also found regarding rs12407427 and BC susceptibility in different inheritance models, including over-dominant CT (P=0.026), dominant CT+CC (P=0.001), recessive CC (P=0.009), and codominant CT and CC (P=0.001) genotypes. The over-presence of the C allele was also correlated with an increased risk for SZN (P=0.0001) and BC (P=0.0001). Finally, computational analysis predicted that T/C variation in this polymorphism could change the binding sites in proteins involved in splicing. Conclusion: rs12407427 T/C as a de novo KIF26B variant might be a novel genetic biomarker for SZN and/or BC susceptibility in a sample of the Iranian population.

2012 ◽  
Vol 113 (3) ◽  
pp. 217-222 ◽  
M. Taheri ◽  
Mohammad Hashemi ◽  
E. Eskandari-Nasab ◽  
A. Fazaeli ◽  
F. Arbabi ◽  

It is known that interleukin-18 (IL-18) is a proinflammatory cytokine with dual effects on tumor development and progression. It can increase the immune defense against tumor cells. Polymorphisms in the IL-18 genes are known to influence both expression levels and may be associated with outcome of cancers. This study was aimed to find out the possible association of IL-18 polymorphism at position –607 C/A (rs1946518) with breast cancer in a sample of Iranian population. We investigated IL-18 rs1946518 polymorphism on 72 breast cancer patients and 93 cancer free women. Genotyping was done using amplification refractory mutation system-PCR (ARMS-PCR). We found no significant differences between breast cancer patients and control subjects regarding IL-18 rs1946518 polymorphism (χ2=1.78, p=0.411). In conclusion, our finding showed that IL-18 rs1946518 polymorphism was not associated with breast cancer in a sample of Iranian population.

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Ihsan A. Hussein ◽  
Saddam H. Jaber

This study is the first investigation in Iraq dealing with genotyping of IL-4 −590 (C>T) gene, especially in Iraqi patients with asthma. We studied forty-eight blood samples collected from patients with asthma and compared with age-matched 25 healthy individuals as controls. The polymorphism results of IL-4 −590 (C>T) gene by using amplification refractory mutation system (ARMS-PCR) showed the presence of C and T alleles and three genotypes (CC, CT, and TT). Interestingly the frequency of C allele and CC genotype was higher in patients with asthma in comparison with the same allele and genotype in control (P 1 × 10−6). This increase was associated with an increased risk factor of asthma (odds ratio [OR] 9.21; 95% confidence interval [CI] 3.58–23.71). Genotypes analysis by using Hardy-Weinberg distribution showed no significant differences between patients with asthma and healthy subjects. In conclusion, the increasing risk of asthma was associated with C allele and the CC genotype and these are revealed as etiological fraction with risk by having this disease, while the T allele percentage ratio in controls was higher when it is compared with asthma patients suggesting that these alleles have a protective effect (preventive fraction).

2021 ◽  
pp. 1-7
Jian Gao ◽  
Sheng Lin ◽  
Shiguo Chen ◽  
Qunyan Wu ◽  
Kaifeng Zheng ◽  

<b><i>Background:</i></b> Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. This study aimed to characterize the G6PD gene variant distribution in Shenzhen of Guangdong province. <b><i>Methods:</i></b> A total of 33,562 individuals were selected at the hospital for retrospective analysis, of which 1,213 cases with enzymatic activity-confirmed G6PD deficiency were screened for G6PD gene variants. Amplification refractory mutation system PCR was first used to screen the 6 dominant mutants in the Chinese population (c.1376G&#x3e;T, c.1388G&#x3e;A, c.95A&#x3e;G, c.1024C&#x3e;T, c.392G&#x3e;T, and c.871G&#x3e;A). If the 6 hotspot variants were not found, next-generation sequencing was then performed. Finally, Sanger sequencing was used to verify all the mutations. <b><i>Results:</i></b> The incidence of G6PD deficiency in this study was 3.54%. A total of 26 kinds of mutants were found in the coding region, except for c.-8-624T&#x3e;C, which was in the noncoding region. c.1376G&#x3e;T and c.1388G&#x3e;A, both located in exon 12, were the top 2 mutants, accounting for 68.43% of all individuals. The 6 hotspot mutations had a cumulative proportion of 94.02%. <b><i>Conclusions:</i></b> This study provided detailed characteristics of G6PD gene variants in Shenzhen, and the results would be valuable to enrich the knowledge of G6PD deficiency.

Reza Zare-Feyzabadi ◽  
Majid Mozaffari ◽  
Majid Ghayour-Mobarhan ◽  
Mohsen Valizadeh

Background: Metabolic Syndrome (MetS) is defined by a clustering of metabolic abnormalities associated with an increased risk of cardiovascular disease and type 2 diabetes mellitus. There has been an increasing interest in the associations of genetic variants involved in diabetes and obesity in the FABP1 pathway. The relationship between the rs2241883 polymorphism of FABP1 and risk of MetS remains unclear. Objective: We aimed to examine the association between this genetic polymorphism and the presence of MetS and its constituent factors. Methods: A total of 942 participants were recruited as part of the Mashhad Stroke and Heart Atherosclerosis Disorders (MASHAD study) Cohort. Patients with MetS were identified using the International Diabetes Federation (IDF) criteria (n=406) and those without MetS (n=536) were also recruited. DNA was extracted from peripheral blood samples and used for genotyping of the FABP1 rs2241883T/C polymorphism using Tetra-Amplification Refractory Mutation System Polymerase Chain Reaction (Tetra-ARMS PCR). Genetic analysis was confirmed by gel electrophoresis and DNA sequencing. Results: Using both univariate and multivariate analyses after adjusting for age, sex and physical activity, carriers of C allele (CT/CC genotypes) in FABP1 variant were related to an increased risk of MetS, compared to non-carriers (OR: 1.38, 95%CI: 1.04,1.82, p=0.026). Conclusion: The present study shows that C allele in the FABP1 variant can be associated with an increased risk of MetS. The evaluation of these factors in a larger population may help further confirm these findings.

2016 ◽  
Vol 24 (4) ◽  
pp. 423-430 ◽  
Ramin Saravani ◽  
Zahra Irani ◽  
Hamid Reza Galavi

Abstract Type 2 diabetes (T2D) is a chronic disorder with different genetics and environmental factors. It is one of growing diseases in the world. Previous studies show association between Transcription Factor 7 Like2 (TCF7L2) and T2D. The current study set to evaluate the relation between TCF7L2 polymorphisms and T2D in Southeast Iran. The present case-control study was done on 250 T2D and 250 healthy controls (HCs). For genotyping polymorphisms TCF7L2 (rs11196205) and (rs4132670) Amplification-Refractory Mutation System-Polymers Chain Reaction (ARMS-PCR) was used. The results showed frequency rates of GC and CC genotypes increased in patients compared to controls (31% vs. 6% and 55% vs. 8%, respectively), showing a statistically significant difference (OR=2.67(1.37-5.21), P<0.05 and OR=3.31(1.92-5.71), P< 0.05, respectively). The C allele was associated with an increased risk of T2D, with the frequency of 28% and 11% in patients and controls, respectively (OR=3.11 (2.22-4.37), P< 0.05). Another Polymorphism of this gene TCF7L2 (rs4132670) was not associated with T2D. Furthermore, the haplotype analysis revealed that rs11196205C/rs4132670C and rs11196205C/rs4132670T are risk factors against T2D (OR=2.08 (1.49-2.86, P<0.05 and OR=1.72 (1.06-2.78) P<0.05, respectively). The findings demonstrated that TCF7L2 (rs11196205) genotypes GC, CC, and allele (C) confer risk for susceptibility to T2D.

2016 ◽  
Vol 117 (2-3) ◽  
pp. 90-97 ◽  
Hamid Reza Kouhpayeh ◽  
Mohsen Taheri ◽  
Mana Baziboroon ◽  
Mohammad Naderi ◽  
Gholamreza Bahari ◽  

Cysteine-cysteine chemokine ligand 5 (CCL5) with immunoregulatory and inflammatory activities has an important role in granuloma formations that activates and stimulates T-cells and macrophages. Cysteine-cysteine chemokine receptor 5 (CCR5) is a chemokine receptor, which is important for migration of immune cells to site of infection. In the present study we investigated the possible association between CCL5 –403G/A (rs2107538), CCL5 –28C/G (rs2280788) and CCR5 Δ32 polymorphisms and pulmonary tuberculosis (PTB) in an Iranian population. This case-control study was performed on 160 patients with pulmonary tuberculosis and 160 unrelated healthy subjects. The CCL5 –403G/A, CCL5 –28C/G and CCR5 Δ32 polymorphisms were genotyped by allele-specific polymerase chain reaction (AS-PCR), tetra amplification refractory mutation system polymerase chain reaction (T-ARMS PCR) and PCR, respectively. Our results showed that GA as well as GA+AA genotypes of CCL5 –403G/A (rs2107538) increased the risk of PTB in comparison with GG genotype (OR=1.70, 95% CI=1.03–2.81, P=0.038 and OR=1.64, 95% CI=1.00–2.68, P=0.049, respectively). No significant association was found between CCL5 –28C/G as well as CCR5 Δ32 polymorphism and PTB risk. In conclusion, our findings proposed that CCL5 –403G>A polymorphism may be a risk factor for susceptibility to PTB in our population. Larger sample sizes with different ethnicities are required to validate our findings.

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 10511-10511
L. Raskin ◽  
F. Lejbkowicz ◽  
O. Barnett-Griness ◽  
D. Reisfeld ◽  
S. Dishon ◽  

10511 Background: The lack of full penetrance of mutations in the BRCA genes suggests the possible existence of other modifying genes and/or environmental factors. Exposure to sex hormones is an established major risk factor for breast cancer. The polymorphisms ( rs700518 (Val80), [TTTA]n) in CYP19, a gene encoding the estrogen synthesizing enzyme P450 aromatase, may be associated with risk of breast cancer in BRCA carriers and/or non-carriers. Methods: An analysis of 922 breast cancer cases and 901 healthy controls, including 408 BRCA carriers and 1,415 non-carriers was carried out. Cases and controls of Ashkenazi origin came from a population-based case-control study of breast cancer in Northern Israel, enriched with BRCA carriers (with and without cancer) from a clinical familial cancer service. DNA samples were genotyped for Ashkenazi BRCA1,2 mutations (185delAG, 5382insC, 6174delT) and CYP19 polymorphisms by allelic discrimination using 7900HT ABI sequence detection system. Statistical analyses were performed using SPSS, SAS, and R language. Results: The Val80 G/G genotype was associated with a significantly increased risk of breast cancer as compared to the A/A genotype in BRCA1 carriers (OR=2.2; 95%CI=1.04–4.53; p=0.039) but not in BRCA2 carriers (OR=0.45, 95%CI=0.17–1.16; p=0.098). A similar magnitude association, though not statistically significant, was found between the Val80 and ER-negative status of breast tumors. A reconstructed common haplotype composed of four haplotype-tagging SNPs in Haplotype Block 4, covering the CYP19 coding region, was also significantly associated with breast cancer risk in 210 carriers of BRCA1 (OR=3.4; 95%CI=1.5–7.8; p=0.004). No significant association between CYP19 polymorphisms and breast cancer risk was found in non-carriers. Conclusions: Our data suggest that the CYP19 Val80 polymorphism and a haplotype including this polymorphism are associated with increased breast cancer risk in BRCA1 carriers. As a higher number of repeats in intron 4 ([TTTA]n polymorphism) is found in complete linkage disequilibrium with the Val80 G allele and is associated with higher estrogen levels, this mechanism could explain the phenotypic uniqueness of the carriers. No significant financial relationships to disclose.

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Mohadese Rezaei ◽  
Mohammad Javad Mokhtari ◽  
Mahnaz Bayat ◽  
Anahid Safari ◽  
Mehdi Dianatpuor ◽  

Abstract Background Efforts to identify potential biomarkers for the diagnosis of ischemic stroke (IS) are valuable. The H19 gene plays a functional role in increasing the prevalence of IS risk factors. We evaluated the correlation between H19 rs217727 polymorphism and the expression level of H19 lncRNA with susceptibility to IS among the Iranian population. Methods Blood samples were collected from IS patients (n = 114) and controls (n = 114). We concentrated on the expression pattern of H19 at different time points (i.e., 0–24, 24–48, and 48–72 h after stroke). The tetra-amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) method was applied for DNA genotyping. We used the quantitative real-time PCR to evaluate H19 expression levels. We used the receiver operating characteristic (ROC) curve to evaluate the diagnosis and prognosis of IS. Results The rs217727polymorphism of H19 was related with IS susceptibility in the co-dominant (OR = 2.92, 95% CI = 0.91–10.92, P = 0.04) and recessive models (OR = 2.80, 95% CI = 0.96–8.15, P = 0.04). H19 expression was significantly upregulated in IS and remained high for 72 h after stroke. ROC curves showed that H19 expression within the first 24 h from stroke onset might serve as a biomarker for the early diagnosis of IS with 79.49% sensitivity and 80.00% specificity. H19 expression in small vessel occlusion (SVO) and large-artery atherosclerosis (LAA) patients were 3.74 and 3.34 times higher than the undetermined (UD) subtype, respectively [OR = 3.74 95% CL (1.14–12.27) P = 0.030 and OR = 3.34 95% CL (1.13–9.85) P = 0.029]. Conclusion The rs217727 polymorphism of the H19 is correlated with IS susceptibility, and H19 expression levels were higher in SVO and LAA patients. The upregulation of H19 may be considered as a diagnostic biomarker in IS among the Iranian population, but it cannot serve as a useful prognostic marker.

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