Haplotype of thrombomodulin gene associated with plasma thrombomodulin level and deep vein thrombosis in the Japanese population

Thrombosis Research
Shoko SugiyamaToshiyuki Miyata

Abstract

Thrombomodulin (TM) is an essential cofactor in protein C activation by thrombin. Here, we evaluated the contribution of genetic variations in the TM gene to soluble TM (sTM) level and deep vein thrombosis (DVT) in Japanese. We sequenced the TM putative promoter, exon, and 3'-untranslated region in DVT patients (n=118). Among 17 genetic variations we identified, two missense mutations (R385K, D468Y) and three common single nucleotide polymorphisms (-202G>A, 2487A>T, 2729A>C) were genotyped in a general population of 2247 subjects (1032 men and 1215 women) whose sTM levels were measured. We then compared the frequency of these mutations in DVT patients with that in the age, body mass index-adjusted population-based controls. We identified one neutral mutation (H381) and three missense mutations (R385K; n=2, A455V; n=53 heterozygous, n=14 homozygous, D468Y; n=2) of TM in the DVT patients. Age-adjusted mean values of sTM were lower in C-allele carriers of 2729A>C than in noncarriers in the Japanese general population (women: 16.7+/-0.3 U/ml vs. 17.9+/-0.2 U/ml, p<0.01, men: 19.4+/-0.3 U/ml vs. 20.4+/-0.3 U/ml, p=0.03). Additionally, the CC genotype of this mutation was more common in the male DVT patients than in the male individu...Continue Reading

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Citations

Apr 4, 2008·Pharmacogenomics·Judith Maria LeitnerBernd Jilma
Nov 16, 2013·Journal of Thrombosis and Thrombolysis·Tong Yin, Toshiyuki Miyata
Oct 14, 2011·Circulation·Robert L LobatoUNKNOWN Duke Perioperative Genetics and Safety Outcomes (PEGASUS) Investigative Team
Nov 3, 2010·Clinical Chemistry and Laboratory Medicine : CCLM·Valeria Bafunno, Maurizio Margaglione
Jan 9, 2016·Journal of Thrombosis and Thrombolysis·Abrar AhmadAshfaque A Memon
Jan 22, 2013·American Journal of Human Genetics·Liang TangYu Hu
May 25, 2016·Critical Care : the Official Journal of the Critical Care Forum·Anil SapruUNKNOWN NHLBI ARDS Network
Sep 17, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Sivaramakrishna P RachakondaThomas Luft
Jan 5, 2017·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Abrar AhmadAshfaque A Memon
Dec 3, 2017·Reproductive Biology and Endocrinology : RB&E·Paula Quintero-RonderosPaul Laissue
Mar 23, 2013·Arteriosclerosis, Thrombosis, and Vascular Biology·Silvia NavarroFrancisco España
Aug 12, 2014·Medical Science Monitor : International Medical Journal of Experimental and Clinical Research·Shuai ZhangDexing Su
Aug 14, 2019·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·N ZiliottoF Bernardi
Oct 27, 2020·Journal of the American Heart Association·Nobuhiro YaoitaHiroaki Shimokawa
Oct 11, 2021·Haemophilia : the Official Journal of the World Federation of Hemophilia·Dino MehicJohanna Gebhart
Jul 9, 2021·International Angiology : a Journal of the International Union of Angiology·Peng ZhangJian Zhang

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