scholarly journals Association of vWA and TPOX Polymorphisms with Venous Thrombosis in Mexican Mestizos

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Marco Antonio Meraz-Ríos ◽  
Abraham Majluf-Cruz ◽  
Carla Santana ◽  
Gino Noris ◽  
Rafael Camacho-Mejorado ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Critical Role ◽  
Preliminary Evidence ◽  
Human Thyroid ◽  
Thyroid Peroxidase ◽  
Nucleotide Polymorphisms ◽  
Phenotypic Effect ◽  
Human Thyroid Peroxidase ◽  
Mexican Mestizos ◽  
Von Willebrand

Objective. Venous thromboembolism (VTE) is a multifactorial disorder and, worldwide, the most important cause of morbidity and mortality. Genetic factors play a critical role in its aetiology. Microsatellites are the most important source of human genetic variation having more phenotypic effect than many single nucleotide polymorphisms. Hence, we evaluate a possible relationship between VTE and the genetic variants in von Willebrand factor, human alpha fibrinogen, and human thyroid peroxidase microsatellites to identify possible diagnostic markers.Methods.Genotypes were obtained from 177 patients with VTE and 531 nonrelated individuals using validated genotyping methods. The allelic frequencies were compared; Bayesian methods were used to correct population stratification to avoid spurious associations.Results.The vWA-18, TPOX-9, and TPOX-12 alleles were significantly associated with VTE. Moreover, subjects bearing the combination vWA-18/TPOX-12 loci exhibited doubled risk for VTE (95% CI = 1.02–3.64), whereas the combination vWA-18/TPOX-9 showed an OR = 10 (95% CI = 4.93–21.49).Conclusions.The vWA and TPOX microsatellites are good candidate biomarkers in venous thromboembolism diseases and could help to elucidate their origins. Additionally, these polymorphisms could become useful markers for genetic studies of VTE in the Mexican population; however, further studies should be done owing that this data only show preliminary evidence.

An Analysis of the Structure and Antigenicity of Different Forms of Human Thyroid Peroxidase

Thyroid ◽  
1994 ◽  
Vol 4 (2) ◽  
pp. 173-178 ◽  
Author(s):  
JAMES R. BAKER ◽  
PATRICIA ARSCOTT ◽  
JENNIFER JOHNSON
Keyword(s):  
Human Thyroid ◽  
Thyroid Peroxidase ◽  
Human Thyroid Peroxidase

scholarly journals Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism

2005 ◽  
Vol 152 (2) ◽  
pp. 193-198 ◽  
Author(s):  
Carina Rodrigues ◽  
Paula Jorge ◽  
José Pires Soares ◽  
Isaura Santos ◽  
Regina Salomão ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Mutation Screening ◽  
Gene Mutations ◽  
Human Thyroid ◽  
Thyroid Peroxidase ◽  
Molecular Testing ◽  
Missense Mutations ◽  
Human Thyroid Peroxidase ◽  
Iodide Organification Defect ◽  
Organification Defect

Objective: Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to a total iodide organification defect. The aim of the present study was to determine the nature and frequency of TPO gene mutations in patients with CH, characterised by elevated TSH levels and orthotopic thyroid gland, identified in the Portuguese National Neonatal Screening Programme. Subjects and methods: The sample comprised 55 patients, from 53 unrelated families, with follow-up in the endocrinology clinics of the treatment centres of Porto and Lisbon. Mutation screening in the TPO gene (exons 1–17) was performed by single-strand conformational analysis followed by sequencing of fragments with abnormal migration patterns. Results: Eight different mutations were detected in 13 patients (seven homozygotes and six compound heterozygotes). Novel mutations included three missense mutations, namely 391T > C (S131P), 1274A > G (N425S) and 2512T > A (C838S), as well as the predictable splice mutation 2748G > A (Q916Q/spl?). The undocumented polymorphism 180-47A > C was also detected. Conclusion: The results are in accordance with previous observations confirming the genetic heterogeneity of TPO defects. The proportion of patients in which the aetiology was determined justifies the implementation of this molecular testing in our CH patients with dyshormonogenesis.

Purification of recombinant human thyroid peroxidase (hTPO) from AD293 mammalian cells

2018 ◽  
Vol 106 ◽  
pp. 87-94
Author(s):  
Parvinder Kaur ◽  
Harshada Patil ◽  
Paresh B. Bhanushali ◽  
Shamkant B. Badgujar ◽  
Anuj Kumar Gupta
Keyword(s):  
Mammalian Cells ◽  
Human Thyroid ◽  
Thyroid Peroxidase ◽  
Human Thyroid Peroxidase

scholarly journals The key residues in the immunodominant region 353–363 of human thyroid peroxidase were identified

2006 ◽  
Vol 18 (7) ◽  
pp. 1091-1099 ◽  
Author(s):  
Sandra A. Rebuffat ◽  
Damien Bresson ◽  
Brigitte Nguyen ◽  
Sylvie Péraldi-Roux
Keyword(s):  
Human Thyroid ◽  
Thyroid Peroxidase ◽  
Immunodominant Region ◽  
Human Thyroid Peroxidase ◽  
Key Residues

scholarly journals Analysis of a conformational B cell epitope of human thyroid peroxidase: identification of a tyrosine residue at a strategic location for immunodominance

2002 ◽  
Vol 14 (4) ◽  
pp. 359-366 ◽  
Author(s):  
Valérie Estienne ◽  
Christine Duthoit ◽  
Stéphanie Blanchin ◽  
Roland Montserret ◽  
Josée‐Martine Durand‐Gorde ◽  
...  
Keyword(s):  
B Cell ◽  
Cell Epitope ◽  
Human Thyroid ◽  
Thyroid Peroxidase ◽  
Tyrosine Residue ◽  
B Cell Epitope ◽  
Strategic Location ◽  
Human Thyroid Peroxidase
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