scholarly journals A single nucleotide polymorphism in the 3′UTR of the SNCA gene encoding alpha-synuclein is a new potential susceptibility locus for Parkinson disease

2009 ◽  
Vol 461 (2) ◽  
pp. 196-201 ◽  
Author(s):  
Sotiria Sotiriou ◽  
Gretchen Gibney ◽  
Andreas D. Baxevanis ◽  
Robert L. Nussbaum
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Parkinson Disease ◽  
Alpha Synuclein ◽  
Susceptibility Locus ◽  
Nucleotide Polymorphism ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Snca Gene

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.

Whole-genome single nucleotide polymorphism-based linkage analysis in spondyloarthritis multiplex families reveals a new susceptibility locus in 13q13

2015 ◽  
Vol 75 (7) ◽  
pp. 1380-1385 ◽  
Author(s):  
Félicie Costantino ◽  
Emmanuel Chaplais ◽  
Tifenn Leturcq ◽  
Roula Said-Nahal ◽  
Ariane Leboime ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Linkage Analysis ◽  
Susceptibility Locus ◽  
Whole Genome ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Multiplex Families

scholarly journals A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis

2004 ◽  
Vol 75 (2) ◽  
pp. 330-337 ◽  
Author(s):  
Ann B. Begovich ◽  
Victoria E.H. Carlton ◽  
Lee A. Honigberg ◽  
Steven J. Schrodi ◽  
Anand P. Chokkalingam ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Single Nucleotide Polymorphism ◽  
Protein Tyrosine Phosphatase ◽  
Tyrosine Phosphatase ◽  
Nucleotide Polymorphism ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Protein Tyrosine

Colocation between a gene encoding the bZip factor SPA and an eQTL for a high-molecular-weight glutenin subunit in wheat (Triticum aestivum)

Genome ◽  
2004 ◽  
Vol 47 (4) ◽  
pp. 705-713 ◽  
Author(s):  
Sabine Guillaumie ◽  
Gilles Charmet ◽  
Laurent Linossier ◽  
Valérie Torney ◽  
Nathalie Robert ◽  
...  
Keyword(s):  
Molecular Weight ◽  
Triticum Aestivum ◽  
Single Nucleotide Polymorphism ◽  
Quantitative Trait ◽  
Storage Protein ◽  
Nucleotide Polymorphism ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Protein Activator ◽  
Bzip Factor

The quality of wheat grain is largely determined by the quantity and composition of storage proteins (prolamins) and depends on mechanisms underlying the regulation of expression of prolamin genes. The endosperm-specific wheat basic region leucine zipper (bZIP) factor storage protein activator (SPA) is a positive regulator that binds to the promoter of a prolamin gene. The aim of this study was to map SPA (the gene encoding bZIP factor SPA) and genomic regions associated with quantitative variations of storage protein fractions using F7 recombinant inbred lines (RILs) derived from a cross between Triticum aestivum 'Renan' and T. aestivum 'Récital'. SPA was mapped through RFLP using a cDNA probe and a specific single nucleotide polymorphism (SNP) marker. Storage protein fractions in the parents and RILs were quantified using capillary electrophoresis. Quantitative trait loci (QTLs) for protein were detected and mapped on six chromosome regions. One QTL, located on the long arm of chromosome 1B, explained 70% of the variation in quantity of the x subunit of Glu-B1. Genetic mapping suggested that SPA is located on chromosome arm 1L and is also present in the confidence interval of the corresponding QTL for Glu-B1x on 1BL, suggesting that SPA might be a candidate gene for this QTL.Key words: Triticum aestivum, quantitative trait locus (QTL), single nucleotide polymorphism (SNP), storage protein activator (SPA), high-molecular-weight glutenin subunit (HMW-GS).

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