scholarly journals Joint Linkage and Association of Six Single-Nucleotide Polymorphisms in the Factor XIII-A Subunit Gene Point to V34L As the Main Functional Locus

2006 ◽  
Vol 26 (8) ◽  
pp. 1914-1919 ◽  
Author(s):  
Marlies de Lange ◽  
Toby Andrew ◽  
Harold Snieder ◽  
Dongliang Ge ◽  
T. Simon Futers ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Factor Xiii ◽  
Nucleotide Polymorphisms ◽  
Subunit Gene ◽  
Single Nucleotide ◽  
Functional Locus ◽  
A Subunit

Coagulopathy in Type 2 Diabetes Mellitus: Pathological Mechanisms and the Role of Factor XIII-A Single Nucleotide Polymorphisms

2019 ◽  
Vol 15 (6) ◽  
pp. 446-455
Author(s):  
Marry-ann Ntanyane Phasha ◽  
Prashilla Soma ◽  
Etheresia Pretorius ◽  
Alia Phulukdaree
Keyword(s):  
Oxidative Stress ◽  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Single Nucleotide Polymorphisms ◽  
Factor Xiii ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Underlying Mechanisms

The prevalence of type 2 diabetes mellitus (T2DM) has quadrupled within three decades since 1980, affecting 422 million adults in 2016. It remains one of the most common noncommunicable chronic diseases and the underlying risk factor for cardiovascular diseases worldwide. There are different underlying mechanisms that play a role in the development of pathologies associated with the disease such as hyperglycaemia, oxidative stress, obesity, inflammation and hypercoagulation; each of which are interlinked. Hyperglycaemia, oxidative stress and obesity play a huge role in the activation of inflammation and coagulation. Activation of inflammatory pathways increases the production of thrombin which predisposes the development of thrombotic related diseases. One of the factors that contribute to the increase of thrombin is the impairment of the fibrinolysis process due to decreased expression of tissue-plasminogen activator (tPA) by increased levels of plasminogen activator inhibitor-1 (PAI-1). Coagulation factor XIII (FXIII), a transglutaminase that is composed of subunits A and B (FXIII-A2B2), is essential for the last step of fibrin clot formation in the coagulation pathway. Genetic variation of FXIII-A in the form of single nucleotide polymorphisms (SNPs) alters the activity of FXIII, altering clot properties which influence disease outcomes. This review discusses the link between underlying mechanisms of T2DM, well known FXIII-A variants and coagulation.

Association between factor XIII single nucleotide polymorphisms and aneurysmal subarachnoid hemorrhage

2009 ◽  
Vol 110 (3) ◽  
pp. 475-481 ◽  
Author(s):  
Claes Ladenvall ◽  
Ludvig Csajbok ◽  
Karin Nylén ◽  
Katarina Jood ◽  
Bengt Nellgård ◽  
...  
Keyword(s):  
Subarachnoid Hemorrhage ◽  
Single Nucleotide Polymorphisms ◽  
Plasminogen Activator ◽  
Factor Xiii ◽  
Aneurysmal Subarachnoid Hemorrhage ◽  
Tissue Type ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pai 1

Object Family studies have suggested a role of genetic factors in susceptibility to aneurysmal subarachnoid hemorrhage (aSAH), but the underlying genetic risk factors remain poorly defined. There is an activation of the fibrinolytic system in aSAH, and fibrinolytic markers may be useful in predicting outcome. The authors investigate associations between putative functional variants in genes of importance for fibrinolysis and aSAH and/or outcome following aSAH. Methods One hundred eighty-three patients presenting with aSAH at a neurointensive care unit were consecutively recruited. Two healthy controls per case, matched for age, sex, and geographic region, were randomly recruited. Outcome was assessed after 1 year according to the extended Glasgow Outcome Scale. Single nucleotide polymorphisms (SNPs) in the tissue-type plasminogen activator (tPA), plasminogen activator inhibitor type 1 (PAI-1), thrombin activatable fibrinolysis inhibitor (TAFI), and factor XIII (FXIII) genes were investigated. Results Participants carrying the FXIII 34Leu allele showed an increased risk of aSAH. When adjusting for smoking and hypertension, 2 haplotypes, differing on either the FXIII Val34Leu or the Pro564Leu position, showed an association to aSAH. No significant association was observed for the tPA -7351 C > T, PAI-1 -675 4G > 5G, or TAFI Ala147Thr SNPs. No specific SNP or haplotype was associated with outcome after aSAH, whereas a weak association was observed for a tPA/PAI-1 genotype combination. Conclusions Polymorphisms in the FXIII gene showed association to aSAH. The finding of an increased risk of bleeding in FXIII 34Leu carriers is biologically plausible.

scholarly journals Identification of novel single nucleotide polymorphisms in the PRKAG3 gene of Pakistani river buffalo

2019 ◽  
Vol 22 (3) ◽  
pp. 353-358
Author(s):  
W. A. Khan ◽  
T. Hussain ◽  
M. E. Babar ◽  
A. Nadeem ◽  
A. R. Awan ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Catalytic Subunit ◽  
Meat Production ◽  
River Buffalo ◽  
The Novel ◽  
Nucleotide Polymorphisms ◽  
Subunit Gene ◽  
Single Nucleotide ◽  
First Report ◽  
Relationship Of

Pakistani river buffalo is classified in five breeds out of which Kundi buffalo has been least documented. This study is designed to find single nucleotide polymorphisms (SNPs) in exonic and in-tronic regions of PRKAG3 (AMP-activated, Gamma3 non-catalytic subunit) gene in the Kundi buf-falo. The PRKAG3 gene of 95 animals each from Kundi and Nili-Ravi were sequenced for identifica-tion of novel SNPs. Comparing with the Nili Ravi breed of buffalo PRKAG3 gene, six SNP sites were identified in the Kundi buffalo. The novel SNPs found in this work can function as a genomic indicator for genetic-phenotypic relationship of PRKAG3 gene with milk and meat production in buffalo. This is the first report of SNPs in PRKAG3 gene of Kundi Buffalo.

Development of a simple method for the determination of single nucleotide polymorphisms

2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Simple Method ◽  
Single Nucleotide
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