Abstract
The p.R147W mutation, the c.C6152T in exon 7, causing a change in amino acid from arginine to tryptophan of the PROC gene has been reported as a common mutation in Taiwanese populations with venous thromboembolism (VTE). The present study aimed to identify the prevalence of p.R147W in the Thai population and children with TE and the risk of developing TE. Patients aged ≤18 years diagnosed with TE were enrolled. The PROC gene was amplified by polymerase chain reaction using a specific primer in exon 7. The restriction fragment length polymorphism was designed using MwoI restriction enzyme. A total of 184 patients and 690 controls were enrolled. The most common diagnosis of TE was arterial ischemic stroke (AIS), at 100 (54.3%), followed by VTE, at 38 (20.6%), and cerebral venous sinus thrombosis (CVST), at 23 (12.5%). The prevalence of heterozygous and homozygous p.R147W in patients and controls was 9.5% versus 5.8% and 2.7% versus 0.1%, respectively. Heterozygous p.R147W had odds ratios (ORs) of 1.8 (95% confidence interval [CI]: 1.0-3.2, P = .04), 3.2 (95% CI: 1.2-8.2, P = .009), and 4.5 (95% CI: 1.6-12.8, P = .002) of developing overall TE, VTE, and CVST, respectively. Homozygous p.R147W had ORs of 20.2 (95% CI: 2.3-173.7, P <...Continue Reading
References
Jul 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·D C FosterE W Davie
Jan 1, 1995·Thrombosis Research·B Dahlbäck
Sep 7, 2000·Thrombosis Research·A KoschU Nowak-Göttl
Nov 25, 2000·British Journal of Haematology·M DávidM Meyer
Apr 20, 2001·The New England Journal of Medicine·U Seligsohn, A Lubetsky
Apr 29, 2004·American Journal of Hematology·Woei Tsay, Ming-Ching Shen
Jun 28, 2005·Clinical Biochemistry·Sachiko KinoshitaNaotaka Hamasaki
Jan 19, 2007·Journal of Pediatric Hematology/oncology·Darintr SosothikulJeanne M Lusher
Apr 14, 2007·BMC Bioinformatics·Pasqualina D'UrsiErmanna Rovida
Jul 7, 2007·Pediatric Hematology and Oncology·Nongnuch SirachainanPraguywan Kadegasem
Jan 15, 2008·International Journal of Hematology·Pantep AngchaisuksiriArjit Tiraganjana
Nov 20, 2009·Thrombosis Research·Nongnuch SirachainanSurapan Parapakpenjune
Feb 22, 2012·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Nejat Akar
Feb 8, 2013·Thrombosis and Haemostasis·Qiulan DingA R Rezaie
Citations
Oct 20, 2018·Hematology·Panchalee Satpanich, Ponlapat Rojnuckarin
Feb 6, 2020·Journal of Thrombosis and Haemostasis : JTH·Atsuki YamashitaLaurent O Mosnier
Jul 2, 2020·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Natsumon UdomkittivorakulNongnuch Sirachainan
Dec 15, 2020·Research and Practice in Thrombosis and Haemostasis·Hiroko TsudaUNKNOWN SSC Subcommittee on Plasma Coagulation Inhibitors of the ISTH
Mar 30, 2019·Thrombosis Research·Ponlapat RojnuckarinNoppacharn Uaprasert