Please use this identifier to cite or link to this item: http://cmuir.cmu.ac.th/jspui/handle/6653943832/58981
Title: R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children
Authors: Nongnuch Sirachainan
Ampaiwan Chuansumrit
Werasak Sasanakul
Najwa Yudhasompop
Lalita Mahaklan
Jarin Vaewpanich
Pimlak Charoenkwan
Somjai Kanjanapongkul
Anannit Visudtibhan
Pakawan Wongwerawattanakoon
Keywords: Medicine
Issue Date: 1-Mar-2018
Abstract: © 2017, © The Author(s) 2017. 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 <.001), 21.4 (95% CI: 2.2-207.9, P <.001), and 43.3 (95% CI: 3.8-490.6, P <.001) of developing overall TE, AIS, and CVST, respectively. This study suggested that p.R147W is a common mutation and increased risk of TE in Thai children.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85041324222&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/58981
ISSN: 19382723
10760296
Appears in Collections:CMUL: Journal Articles

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