scholarly journals Association of HER1 and HER2 Gene Variants in the Predisposition of Colorectal Cancer

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Ibrahim O. Alanazi ◽  
Jilani Purusottapatnam Shaik ◽  
Narasimha Reddy Parine ◽  
Nahla A. Azzam ◽  
Othman Alharbi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Health Concern ◽  
Nucleotide Polymorphism ◽  
Her2 Gene ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Major Health ◽  
Risk Of Cancer ◽  
Control Study

Background. Colorectal cancer (CRC) is a major health concern worldwide. A series of sequential accumulation of genetic and epigenetic changes are responsible for the initiation and progression of diseases via the normal > adenoma > carcinoma sequence. Genetic variants in crucial cancer-causing genes are known to mediate the risk of cancer. Objective. In this case-control study, we examined single nucleotide polymorphism (SNP) in HER1 (rs763317 and rs3752651) and HER2 (rs1136201 and rs1058808) genes to assess their role in the susceptibility of CRC in a Saudi population. Methods. TaqMan allelic discrimination assay was utilized to identify the genotypes in 163 normal and 143 CRC patients. Results. In the overall analysis, the rs3752651 and rs1136201 were significantly associated with the risk of CRC. Although none of the examined SNPs had any impact on the age at which CRC was diagnosed, interestingly, three SNPs showed a significant association based on gender. The rs3752651 conferred significant protection only in men, whereas rs1136201 diminished the risk and rs1058808 considerably increased the susceptibility of CRC only in women. Conclusions. Our result suggests that these SNPs in HER1 and HER2 after validation in larger cohorts of different ethnicities may be utilized as genetic screening markers for predicting colorectal cancer predisposition.

Interleukin-1β (IL-1β) -31C/T and -511T/C promoter single nucleotide polymorphism in colorectal cancer in ethnic Kashmiri population - a case control study

Meta Gene ◽  
2017 ◽  
Vol 12 ◽  
pp. 94-103 ◽  
Author(s):  
Mujeeb Zafar Banday ◽  
Ashaq Hussain Mir ◽  
Aga Syed Sameer ◽  
Nissar A Chowdri ◽  
Ehtishamul Haq
Keyword(s):  
Colorectal Cancer ◽  
Single Nucleotide Polymorphism ◽  
Case Control Study ◽  
Case Control ◽  
Interleukin 1Β ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Kashmiri Population ◽  
Control Study

scholarly journals Single-Nucleotide Polymorphisms in Oxidative Stress-Related Genes and the Risk of a Stroke in a Polish Population—A Preliminary Study

2021 ◽  
Vol 11 (3) ◽  
pp. 391
Author(s):  
Ewelina Synowiec ◽  
Paulina Wigner ◽  
Natalia Cichon ◽  
Cezary Watala ◽  
Piotr Czarny ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Single Nucleotide Polymorphisms ◽  
Polish Population ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Potential Association ◽  
Stress Related Genes ◽  
Control Study

The present preliminary case-control study was undertaken to detect the potential association of six single nucleotide polymorphisms (SNPs) in oxidative stress-related genes: SOD2 (c.47T > C; rs4880), CAT (c.-89A > T; rs7943316), GPX4 (c.660T > A; rs713041), NOS1 (g.117803515C > T; rs1879417) and NOS2 (c.1823C > T; rs2297518 and c.-227G > C; rs10459953) and the occurrence of a stroke. The SNPs were determined using the TaqMan® Allelic Discrimination Assay in 107 patients with strokes and 107 age- and sex-matched individuals who had not experienced cerebrovascular accidents. The T alleles of the rs4880 were positively correlated with a stroke (bootstrap OR 1.31; 1.07–1.59 95% CI). In the case of the rs713041, an association with the T allele was found (bootstrap OR 1.36; 1.12–1.67). In addition, the occurrence of a stroke was associated with the presence of the C allele of the rs1879417 (bootstrap OR 1.32; 1.09–1.61). We also found that the C/C genotype and C allele of the rs2297518 increased the risk of a stroke (bootstrap ORs 7.00; 4.34–11.29 and 4.96; 3.88–6.34, respectively). Moreover, the C allele of the rs10459953 was associated with an increased occurrence of this disease (bootstrap OR 1.31; 1.08–1.60). These results indicated that genetics variants in the SOD2, GPX4, NOS1 and NOS2 might be associated with susceptibility to strokes in the Polish population.

scholarly journals Genetic polymorphism for IFNγ +874T/A in patients with acute toxoplasmosis

2012 ◽  
Vol 45 (6) ◽  
pp. 757-760 ◽  
Author(s):  
Elizabeth de Souza Neves ◽  
André Luis Land Curi ◽  
Maira Cavalcanti de Albuquerque ◽  
Cassius Schnel Palhano-Silva ◽  
Laura Berriel da Silva ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Case Control Study ◽  
Severe Disease ◽  
Clinical Manifestations ◽  
Nucleotide Polymorphism ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Duration Of Disease ◽  
Acute Toxoplasmosis ◽  
Control Study

INTRODUCTION: A single nucleotide polymorphism (SNP) in the gene encoding gamma interferon influences its production and is associated with severity of infectious diseases. This study aimed to evaluate the association of IFNγ+874T/A SNP with duration of disease, morbidity, and development of retinochoroiditis in acute toxoplasmosis. METHODS: A case-control study was conducted among 30 patients and 90 controls. RESULTS: Although statistical associations were not confirmed, A-allele was more common among retinochoroiditis cases and prolonged illness, while T-allele was more frequent in severe disease. CONCLUSIONS: Despite few cases, the results could indicate a relation between IFNγ+874T/A single nucleotide polymorphism and clinical manifestations of toxoplasmosis.

scholarly journals Association of a single nucleotide polymorphism in Tbx4 with developmental dysplasia of the hip: a case-control study

2010 ◽  
Vol 18 (12) ◽  
pp. 1592-1595 ◽  
Author(s):  
K. Wang ◽  
D. Shi ◽  
P. Zhu ◽  
J. Dai ◽  
L. Zhu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Case Control Study ◽  
Case Control ◽  
Developmental Dysplasia ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Dysplasia Of The Hip ◽  
Control Study

Highly specific detection of KRAS single nucleotide polymorphism by asymmetric PCR/SERS assay

The Analyst ◽  
2021 ◽  
Author(s):  
Nana Lyu ◽  
Vinoth Kumar Rajendran ◽  
Jun Li ◽  
Alexander Engel ◽  
Mark P. Molloy ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Decision Making ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Nucleotide Polymorphism ◽  
Asymmetric Pcr ◽  
Specific Detection ◽  
Kras Mutations ◽  
Single Nucleotide ◽  
The Common

The molecular diagnosis of KRAS mutations has become crucial for clinical decision-making in colorectal cancer (CRC) treatments. Currently, the common methods for detecting mutations are based on quantitative PCR, DNA...

scholarly journals Thymidylate synthase expression pattern, expression level and single nucleotide polymorphism are predictors for disease-free survival in patients of colorectal cancer treated with 5-fluorouracil

2006 ◽  
Author(s):  
María-Encarnación Fernández-Contreras ◽  
Sandra Sánchez-Prudencio ◽  
José-Javier Sánchez-Hernández ◽  
María-Luisa García de Paredes ◽  
Javier Gisbert ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Single Nucleotide Polymorphism ◽  
Expression Pattern ◽  
Thymidylate Synthase ◽  
Disease Free Survival ◽  
Expression Level ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Free Survival ◽  
Disease Free

scholarly journals Single Nucleotide Polymorphism in SMAD7 and CHI3L1 and Colorectal Cancer Risk

2018 ◽  
Vol 2018 ◽  
pp. 1-23 ◽  
Author(s):  
Amal Ahmed Abd El-Fattah ◽  
Nermin Abdel Hamid Sadik ◽  
Olfat Gamil Shaker ◽  
Amal Mohamed Kamal
Keyword(s):  
Colorectal Cancer ◽  
Genetic Variation ◽  
Sequence Variation ◽  
Regulatory Protein ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
The Third ◽  
Common Cancer ◽  
Cancer Initiation

Colorectal cancer (CRC) is one of the leading cancers throughout the world. It represents the third most common cancer and the fourth in mortality. Most of CRC are sporadic, arise with no known high-penetrant genetic variation and with no previous family history. The etiology of sporadic CRC is considered to be multifactorial and arises from the interaction of genetic variants of low-penetrant genes and environmental risk factors. The most common well-studied genetic variation is single nucleotide polymorphisms (SNPs). SNP arises as a point mutation. If the frequency of the sequence variation reaches 1% or more in the population, it is referred to as polymorphism, but if it is lower than 1%, the allele is typically considered as a mutation. Lots of SNPs have been associated with CRC development and progression, for example, genes of TGF-β1 and CHI3L1 pathways. TGF-β1 is a pleiotropic cytokine with a dual role in cancer development and progression. TGF-β1 mediates its actions through canonical and noncanonical pathways. The most important negative regulatory protein for TGF-β1 activity is termed SMAD7. The production of TGF-βcan be controlled by another protein called YKL-40. YKL-40 is a glycoprotein with an important role in cancer initiation and metastasis. YKL-40 is encoded by the CHI3L1 gene. The aim of the present review is to give a brief introduction of CRC, SNP, and examples of some SNPs that have been documented to be associated with CRC. We also discuss two important signaling pathways TGF-β1 and CHI3L1 that influence the incidence and progression of CRC.

scholarly journals Polymorphisms of Fatty Acid Elongase 2 Gene Afftects Risk of Pulmonary Tuberculosis in China Han Population

2021 ◽  
Author(s):  
Min Mu ◽  
Li Jing ◽  
Yuan-Jie Zou ◽  
Xing-Rong Tao ◽  
Fei Wang ◽  
...  
Keyword(s):  
Epidemiological Survey ◽  
Nucleotide Polymorphism ◽  
Dominance Model ◽  
Fatty Acid Elongase ◽  
Single Nucleotide ◽  
Female Population ◽  
Genetic Modeling ◽  
Male Patients ◽  
The Relationship ◽  
Control Study

Background: As an infectious disease closely related to Mycobacterium tuberculosis, autoimmunity, inflammation, environment and heredity, the relationship between the single nucleotide polymorphism of elongase 2 gene and the susceptibility to tuberculosis is still unknown. Methods: Between January 2016 and November 2018, a hospital-based case-control study was conducted. This epidemiological survey was conducted in both hospitals every three months. rs3798719, rs1570069, and rs2236212 in ELOVL2 gene were detected by Sanger sequencing. Results: Stratified by gender, the genotypes and allele frequencies of rs3798719, rs1570069 and rs2236212 showed significant differences between the two groups (χ2 = 6.987, P = 0.030), Genetic modeling showed that rs3798719 was statistically different in the overdominance model (χ2 = 4.784, OR = 1.414, 95% CI: 1.036-1.929, P < 0.05). The polymorphism of rs2236212 between male TB patients and healthy controls was statistically different in the dominance model. (χ2 = 4.192, OR = 0.507; 95% CI: 0.262-0.981, P < 0.05). Conclusion: The rs3798719 of ELOVL2 gene may be associated with susceptibility to TB in female population and the rs2236212 of ELOVL2 gene may be associated with TB incidence in male patients.

scholarly journals Single Nucleotide Polymorphisms of Indoleamine 2,3-Dioxygenase 1 Influenced the Age Onset of Parkinson’s Disease

2020 ◽  
Author(s):  
Nóra Török ◽  
Rita Maszlag-Török ◽  
Kinga Molnár ◽  
Zoltán Szolnoki ◽  
Ferenc Somogyvári ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Subgroup Analysis ◽  
Snp Analysis ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Indoleamine 2,3 Dioxygenase ◽  
Tryptophan Dioxygenase

Earlier studies reported alterations of the kynurenine (KYN) pathway of tryptophan (TRP) metabolism in Parkinson&rsquo;s disease (PD). The first rate-limiting enzymes indoleamine 2,3-dioxygenase (IDO) and tryptophan dioxygenase were observed upregulated, resulting elevated KYN/TRP ratios in the serum and cerebrospinal fluid samples of patients with PD. An increasing number of single nucleotide polymorphisms (SNPs) have been identified in a population of PD. However, little is known if genetic variations of the IDO contribute to disturbance of the KYN metabolism in and the pathogenesis of PD. SNP analysis of IDO1 was performed by allelic discrimination assay with fluorescently labelled TaqMan probes and a subgroup analysis was conducted according to the age of PD onset. The frame shifts variant rs34155785, intronic variant rs7820268, and promotor region variant rs9657182 SNPs of 105 PD patients without comorbidity were analyzed and compared to 129 healthy controls. No significant correlation was found in three SNPs between PD patients and healthy controls. However, the subgroup analysis revealed that A alleles of rs7820268 SNP or rs9657182 SNP carriers contribute to later onset of PD than non-carriers. The study suggested that SNPs of IDO1 influenced the age onset of PD and genotyping of SNPs in certain alleles potentially serves as a risk biomarker of PD.

scholarly journals A Two-Single-Nucleotide Polymorphism Haplotype in Promoter Region of CYP11B2 Gene Affects Plasma Aldosterone Concentration: A Matched Case-Control Study

10.19082/7767 ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 7767-7775
Author(s):  
Fatemeh Nabizadeh ◽  
Shabnaz Koochakkhani ◽  
Hossein Farshidi ◽  
Zahra Farbood ◽  
Fatemeh Kharaee ◽  
...  
Keyword(s):  
Promoter Region ◽  
Case Control Study ◽  
Case Control ◽  
Plasma Aldosterone ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Plasma Aldosterone Concentration ◽  
Matched Case ◽  
Matched Case Control Study ◽  
Control Study
Sign in / Sign up

Export Citation Format

Share Document