scholarly journals Genetic association study of a single nucleotide polymorphism of kallikrein-related peptidase 2 with male infertility

2011 ◽  
Vol 38 (1) ◽  
pp. 6 ◽  
Author(s):  
Sun-Hee Lee ◽  
Suman Lee
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Male Infertility ◽  
Association Study ◽  
Genetic Association ◽  
Genetic Association Study ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica

2010 ◽  
Vol 16 (8) ◽  
pp. 981-984 ◽  
Author(s):  
Marcelo Matiello ◽  
Janet Schaefer-Klein ◽  
Doralina G Brum ◽  
Elizabeth J Atkinson ◽  
Orhun H Kantarci ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Single Nucleotide Polymorphism ◽  
Association Study ◽  
Neuromyelitis Optica ◽  
Genetic Association Study ◽  
Case Control ◽  
Small Populations ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Nuclease Assay

Background: Association of the HLA-DRB1*1501 allele with multiple sclerosis is well established, but its association with neuromyelitis optica has only been evaluated in small populations. Methods: We performed a case-control genetic association study to evaluate the association of HLA-DRB1*1501 with neuromyelitis optica. The single nucleotide polymorphism rs3135388, which tags HLA-DRB1*1501, was genotyped in 164 patients with neuromyelitis optica, 220 patients with multiple sclerosis and 959 controls matched for age, gender and ethnicity. Genotyping for rs3135388 was performed by Taqman-based 5' nuclease assay. Results: Rs3135388*A was positively associated with multiple sclerosis (OR = 3.93; 95% CI = 2.58—5.97, p = 1.18 × 10-09) but negatively associated with NMO (OR = 0.57; 95% CI = 0.36—0.91, p = 0.01). Conclusions: Multiple sclerosis and neuromyelitis optica differ in their associations with DRB1*1501.

Genetic association of CCR5 promoter single nucleotide polymorphism in seronegative and seropositive rheumatoid arthritis

2012 ◽  
Vol 23 (2) ◽  
pp. 25-28
Author(s):  
Guadalupe Lima ◽  
Janette Furuzawa-Carballeda ◽  
Dolores Ramos-Bello ◽  
Juan Jakez-Ocampo ◽  
Virginia Pascual-Ramos ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Single Nucleotide Polymorphism ◽  
Genetic Association ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Seropositive Rheumatoid Arthritis

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.

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