Development of a Multiplex Tetra-Primer Amplification Refractory Mutation System PCR to Detect Three Single Nucleotide Polymorphisms Associated with Breast Cancer

2012 ◽  
Vol 42 (2) ◽  
pp. 143-147 ◽  
Author(s):  
Chen ZHANG ◽  
Ying LIU ◽  
XiYang WU ◽  
Miao WANG ◽  
XueJun MA
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Amplification Refractory Mutation System ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mutation System

Association between single nucleotide polymorphisms rs12722489 and multiple sclerosis in Iranian patients with multiple sclerosis

2020 ◽  
Author(s):  
Habib Ahmadi ◽  
Vahid Reza Yassaee ◽  
Reza Mirfakhraie ◽  
Feyzollah Hashemi-Gorji
Keyword(s):  
Multiple Sclerosis ◽  
Single Nucleotide Polymorphisms ◽  
Interleukin 2 ◽  
European Population ◽  
Control Group ◽  
Amplification Refractory Mutation System ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mutation System ◽  
Iranian Patients

Abstract Background: Multiple sclerosis (MS) is a complex incurable neurodegenerative disease featuring demyelination of neurons, resulting in impairment of neuron impulses. Recently, an association of two single nucleotide polymorphisms (SNP) (rs2104286 and rs12722489) in interleukin 2 receptor subunit alpha (IL2RA) gene was found to be a risk factor of MS in white European population. Therefore, we performed a study to investigate the contribution of these two intronic variations in Iranian patients with MS. Methods: We determined the genotypes of rs2104286 and rs12722489 in patients with MS (n = 100) and in the control group (n = 111). The SNPs were genotyped using tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) for both of SNPs. Statistical analysis was performed by SPSS software. Also, odds ratios (ORs) and 95% confidence interval (CI) were calculated. Results: Logistic regression revealed that various genotypes of rs12722489, regarding sex-adjusted effect, yielded meaningful association with MS risk in Iranian patients (OR = 2.67, 95% CI: 1.03-6.90). However, no association was obtained for rs2104286 and rs12722489 with MS. Conclusion: The results confirmed partially the reports in white European population performed recently. However, further investigation in larger scale is necessary to validate our study.

scholarly journals Lack of association between common UGT2B nonsynonymous single-nucleotide polymorphisms and breast cancer in populations of African ancestry

2011 ◽  
Vol 130 (11) ◽  
pp. 2740-2742 ◽  
Author(s):  
Chang Sun ◽  
Dezheng Huo ◽  
Barbara Nemesure ◽  
Anselm Hennis ◽  
M. Cristina Leske ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
African Ancestry ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals The role of functional polymorphisms in oxidative stress-related genes on early-stage breast cancer survival

2021 ◽  
pp. 172460082110111
Author(s):  
Erika Korobeinikova ◽  
Rasa Ugenskiene ◽  
Ruta Insodaite ◽  
Viktoras Rudzianskas ◽  
Jurgita Gudaitiene ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Overall Survival ◽  
Single Nucleotide Polymorphisms ◽  
Early Stage ◽  
Disease Free Survival ◽  
Early Stage Breast Cancer ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Free Survival ◽  
Disease Free

Background: Genetic variations in oxidative stress-related genes may alter the coded protein level and impact the pathogenesis of breast cancer. Methods: The current study investigated the associations of functional single nucleotide polymorphisms in the NFE2L2, HMOX1, P21, TXNRD2, and ATF3 genes with the early-stage breast cancer clinicopathological characteristics and disease-free survival, metastasis-free survival, and overall survival. A total of 202 Eastern European (Lithuanian) women with primary I–II stage breast cancer were involved. Genotyping of the single nucleotide polymorphisms was performed using TaqMan single nucleotide polymorphisms genotyping assays. Results: The CA+AA genotypes of P21 rs1801270 were significantly less frequent in patients with lymph node metastasis and larger tumor size ( P=0.041 and P=0.022, respectively). The TT genotype in ATF3 rs3125289 had significantly lower risk of estrogen receptor (ER), progesterone receptor (PR) negative, and human epidermal growth factor receptor 2 (HER2) positive status ( P=0.023, P=0.046, and P=0.040, respectively). In both, univariate and multivariate Cox analysis, TXNRD2 rs1139793 GG genotype vs. GA+AA was a negative prognostic factor for disease-free survival (multivariate hazard ratio (HR) 2.248; P=0.025) and overall survival (multivariate HR 2.248; P=0.029). The ATF3 rs11119982 CC genotype in the genotype model was a negative prognostic factor for disease-free survival (multivariate HR 5.878; P=0.006), metastasis-free survival (multivariate HR 4.759; P=0.018), and overall survival (multivariate HR 3.280; P=0.048). Conclusion: Our findings suggest that P21 rs1801270 is associated with lymph node metastasis and larger tumor size, and ATF3 rs3125289 is associated with ER, PR, and HER2 status. Two potential, novel, early-stage breast cancer survival biomarkers, TXNRD2 rs1139793 and ATF3 rs11119982, were detected. Further investigations are needed to confirm the results of the current study.

Single nucleotide polymorphisms in the 20q13 amplicon genes in relation to breast cancer risk and clinical outcome

2011 ◽  
Vol 130 (3) ◽  
pp. 905-916 ◽  
Author(s):  
Hong Shi ◽  
Melanie Bevier ◽  
Robert Johansson ◽  
Ewa Grzybowska ◽  
Bowang Chen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Single Nucleotide Polymorphisms ◽  
Clinical Outcome ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide
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