The impact of the CYP2D6 “enhancer” single nucleotide polymorphism on CYP2D6 activity

2021 ◽  
Author(s):  
Jean C Dinh ◽  
Erin C Boone ◽  
Vincent S Staggs ◽  
Robin E Pearce ◽  
Wendy Y Wang ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cyp2d6 Activity ◽  
The Impact

The Impact of Vitamin D Receptor Single Nucleotide Polymorphism on 1.25 (OH) Vitamin D3 and Bone Mineral Density in Egyptian Children with Beta-thalassemia

2017 ◽  
Vol 07 (05) ◽  
Author(s):  
Eman AE Badr ◽  
Samah Ibrahim EL Ghlban ◽  
Mahmoud Ahmed El Hawy ◽  
Sara Hamdey Mohamed Elsaadany ◽  
Ibrahim El Tantawy El Sayed
Keyword(s):  
Bone Mineral Density ◽  
Vitamin D ◽  
Single Nucleotide Polymorphism ◽  
Vitamin D Receptor ◽  
Beta Thalassemia ◽  
Nucleotide Polymorphism ◽  
Mineral Density ◽  
Single Nucleotide ◽  
Egyptian Children ◽  
The Impact

scholarly journals The impact of single nucleotide polymorphism in monomeric alpha-amylase inhibitor genes from wild emmer wheat, primarily from Israel and Golan

2010 ◽  
Vol 10 (1) ◽  
pp. 170 ◽  
Author(s):  
Ji-Rui Wang ◽  
Yu-Ming Wei ◽  
Mei Deng ◽  
Eviatar Nevo ◽  
Ze-Hong Yan ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Wild Emmer Wheat ◽  
Wild Emmer ◽  
Alpha Amylase ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Amylase Inhibitor ◽  
Alpha Amylase Inhibitor ◽  
Inhibitor Genes ◽  
The Impact

scholarly journals The Association of IL-1 and HRAS Gene Polymorphisms with Breast Cancer Susceptibility in a Jordanian Population of Arab Descent: A Genotype–Phenotype Study

Cancers ◽  
2020 ◽  
Vol 12 (2) ◽  
pp. 283 ◽  
Author(s):  
Laith N. AL-Eitan ◽  
Bashar H. Al-Ahmad ◽  
Fouad A. Almomani
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphism ◽  
Genetic Polymorphisms ◽  
Genetic Association ◽  
Risk Allele ◽  
Variable Number Tandem Repeat ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Jordanian Population ◽  
The Impact

Breast cancer (BC) pathogenesis is poorly understood and not yet completely determined. BC susceptibility genes are responsible for 20% to 25% of breast cancer risk. The main objective of this study is to identify the genetic polymorphisms within the Harvey rat sarcoma viral oncogene homolog (HRAS1) and interleukin-1 receptor antagonist (IL1-Ra) genes in Jordanian BC female patients and to investigate the genetic association of these polymorphisms with BC. Samples were collected from 150 Jordanian BC patients and 187 healthy age-matched controls. PCR and PCR-RFLP techniques were used to identify genetic polymorphisms within these candidate genes. The single nucleotide polymorphism single nucleotide polymorphism (SNP) association web tool SNPStats (v. 3.6) was used to investigate the allelic and genotypic association with BC. Different statistical analyses were used to study the correlation between the investigated genetic variants and several prognosis factors of BC. A genetic association between BC susceptibility and Il-1β rs1143634 was found specifically at the allelic level of E1 as a risk allele (72% in the cases vs. 64.2% in the controls). Another genetic association was found in the IL-Ra gene (86-VNTR (variable number tandem repeat)), which presented one repeat allele (24.1% in cases vs. 15.59% in controls) and could be considered as a risk allele in Jordanian women. In contrast, this study found that there is no genetic association between Il-1β SNP rs16944 and BC. In addition, a significant association was found between the allelic level of the HRAS1 gene and BC susceptibility. Since this study is the first to be conducted on the genetic susceptibility of these genes to BC in the Jordanian population, more investigations on the link between BC and these variants are recommended to determine the impact of these polymorphisms on other ethnic groups.

scholarly journals Finding the right coverage: the impact of coverage and sequence quality on single nucleotide polymorphism genotyping error rates

2016 ◽  
Vol 16 (4) ◽  
pp. 966-978 ◽  
Author(s):  
Emily D. Fountain ◽  
Jonathan N. Pauli ◽  
Brendan N. Reid ◽  
Per J. Palsbøll ◽  
M. Zachariah Peery
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Error Rates ◽  
Genotyping Error ◽  
Single Nucleotide Polymorphism Genotyping ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
The Right ◽  
Sequence Quality ◽  
The Impact

scholarly journals Testing the impact of a single nucleotide polymorphism in a Plasmodium berghei ApiAP2 transcription factor on experimental cerebral malaria in mice

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Munir Akkaya ◽  
Abhisheka Bansal ◽  
Patrick W. Sheehan ◽  
Mirna Pena ◽  
Clare K. Cimperman ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Transcription Factor ◽  
Cerebral Malaria ◽  
Plasmodium Berghei ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Experimental Cerebral Malaria ◽  
The Impact

scholarly journals Next-Generation Sequencing Approaches in Genome-Wide Discovery of Single Nucleotide Polymorphism Markers Associated with Pungency and Disease Resistance in Pepper

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Abinaya Manivannan ◽  
Jin-Hee Kim ◽  
Eun-Young Yang ◽  
Yul-Kyun Ahn ◽  
Eun-Su Lee ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Disease Resistance ◽  
Next Generation Sequencing ◽  
Molecular Mechanisms ◽  
Next Generation ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Genome Wide ◽  
The Impact ◽  
Generation Sequencing

Pepper is an economically important horticultural plant that has been widely used for its pungency and spicy taste in worldwide cuisines. Therefore, the domestication of pepper has been carried out since antiquity. Owing to meet the growing demand for pepper with high quality, organoleptic property, nutraceutical contents, and disease tolerance, genomics assisted breeding techniques can be incorporated to develop novel pepper varieties with desired traits. The application of next-generation sequencing (NGS) approaches has reformed the plant breeding technology especially in the area of molecular marker assisted breeding. The availability of genomic information aids in the deeper understanding of several molecular mechanisms behind the vital physiological processes. In addition, the NGS methods facilitate the genome-wide discovery of DNA based markers linked to key genes involved in important biological phenomenon. Among the molecular markers, single nucleotide polymorphism (SNP) indulges various benefits in comparison with other existing DNA based markers. The present review concentrates on the impact of NGS approaches in the discovery of useful SNP markers associated with pungency and disease resistance in pepper. The information provided in the current endeavor can be utilized for the betterment of pepper breeding in future.

scholarly journals The impact of single nucleotide polymorphism selection on prediction of genomewide breeding values

2009 ◽  
Vol 3 (Suppl 1) ◽  
pp. S13 ◽  
Author(s):  
Kacper Żukowski ◽  
Tomasz Suchocki ◽  
Anna Gontarek ◽  
Joanna Szyda
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Breeding Values ◽  
Single Nucleotide Polymorphism Selection ◽  
The Impact

The impact of promoter single nucleotide polymorphism (−11,391 G/a) on type II diabetes mellitus in Iraqi population

Gene Reports ◽  
2021 ◽  
pp. 101115
Author(s):  
Abdulhussein A. Algenabi ◽  
Ahmed N. Kaftan ◽  
Majid K. Hussain ◽  
Fadhil A. Wdaah ◽  
Farah H. Naser
Keyword(s):  
Diabetes Mellitus ◽  
Single Nucleotide Polymorphism ◽  
Type Ii Diabetes ◽  
Type Ii Diabetes Mellitus ◽  
Type Ii ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
The Impact

scholarly journals WHAT IS THE IMPACT OF IL12B+1188 SINGLE NUCLEOTIDE POLYMORPHISM ON IL-12 SERUM LEVEL of MULTIPLE SCLEROSIS IRAQI PATIENTS?

2016 ◽  
Vol 4 (9) ◽  
pp. 2276-2281
Author(s):  
MeeladA. Al-Nasiri ◽  
◽  
EhabD. Salman ◽  
AliH. Ad’hiah ◽  
SarmadA. Al-Mashtah ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Single Nucleotide Polymorphism ◽  
Serum Level ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
The Impact

A Single Nucleotide Polymorphism in Pro-Apoptotique Protein BIM Affects Chronic Myeloid Leukaemia Evolution during Imatinib Treatment

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4227-4227
Author(s):  
Vanessa Augis ◽  
Francis Belloc ◽  
Kelly Airiau ◽  
Claudine Chollet ◽  
Francois-Xavier Mahon
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Chronic Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Genotype Frequency ◽  
Imatinib Treatment ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Coding Sequence ◽  
The Impact ◽  
Tyrosin Kinase

Abstract The tyrosin kinase inhibitor imatinib induces apoptosis in chronic myeloid leukaemia (CML) cells. RNA interference experiments have demonstrated that the pro-apoptotic protein BIM (Bcl-2 interacting mediator of cell death) was absolutely essential to this apoptosis. Thus, mutations in BIM sequence could lead to imatinib resistance independently of BCR-ABL mutations. In the current study, we performed BIM coding sequence analysis, using complementary DNA of leukocytes from CML patients mostly secondary resistant to imatinib. A total of 58 patients were analysed: secondary resistant to imatinib (n=40), or on the contrary sensitive to it (n=18). They were in chronic phase (CP, n=43), in accelerated phase (AP, n= 12), or in blastic phase (BP, n=3). Four patients were mutated in the tyrosin kinase domain of BCR-ABL. We did not find any mutation with amino acid change on the coding sequence of BIM. However, we observed a single nucleotide polymorphism (SNP) located in the fifth exon which encode for the BH3 alpha helix part of the protein. The impact of this previously described silent polymorphism C465T (rs724710) has never been studied before. We found the 3 following genotypes : C/C homozygous, T/T homozygous and T/C heterozygous. T/T genotype was the less frequent (It represents about 5% in the European population described in the international Hapmap project). Although not significant (10%, p=0.1468), we observed an increased T/T genotype frequency in the resistant population. In this resistant group, the T/T genotype frequency was increased in advanced phases (AP+BP, 20%) as compared to CP (4%, p=0.0016) or to sensitive cohort (5.6%, p=0.0153) (Fig.1). T/T genotype could affect RNA stability, translation speed and protein folding as described by Kimchi-Sarfaty et al. for the MDR1 gene (Science2007;315:525–8). This genotype can possibly be in linkage disequilibrium with others SNPs or abnormalities (i.e. in the promoter, in splicing sites) in the non coding sequence. The analysis of this polymorphism could be useful to predict the evolution of the disease during imatinib treatment and discriminate resistant patients particularly in advanced phase of the disease. Fig 1 : Genotypes distribution of the C465T polymorphism. Fig 1. Genotypes distribution of the C465T polymorphism. Fig 1. Genotypes distribution of the C465T polymorphism.

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