R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children

© 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 prevalenc...

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Main Authors: Nongnuch Sirachainan, Ampaiwan Chuansumrit, Werasak Sasanakul, Najwa Yudhasompop, Lalita Mahaklan, Jarin Vaewpanich, Pimlak Charoenkwan, Somjai Kanjanapongkul, Anannit Visudtibhan, Pakawan Wongwerawattanakoon
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Published: 2018
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/58981
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spelling th-cmuir.6653943832-589812018-09-05T04:35:55Z R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children Nongnuch Sirachainan Ampaiwan Chuansumrit Werasak Sasanakul Najwa Yudhasompop Lalita Mahaklan Jarin Vaewpanich Pimlak Charoenkwan Somjai Kanjanapongkul Anannit Visudtibhan Pakawan Wongwerawattanakoon Medicine © 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. 2018-09-05T04:35:55Z 2018-09-05T04:35:55Z 2018-03-01 Journal 19382723 10760296 2-s2.0-85041324222 10.1177/1076029617709085 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85041324222&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/58981
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Medicine
spellingShingle Medicine
Nongnuch Sirachainan
Ampaiwan Chuansumrit
Werasak Sasanakul
Najwa Yudhasompop
Lalita Mahaklan
Jarin Vaewpanich
Pimlak Charoenkwan
Somjai Kanjanapongkul
Anannit Visudtibhan
Pakawan Wongwerawattanakoon
R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children
description © 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.
format Journal
author Nongnuch Sirachainan
Ampaiwan Chuansumrit
Werasak Sasanakul
Najwa Yudhasompop
Lalita Mahaklan
Jarin Vaewpanich
Pimlak Charoenkwan
Somjai Kanjanapongkul
Anannit Visudtibhan
Pakawan Wongwerawattanakoon
author_facet Nongnuch Sirachainan
Ampaiwan Chuansumrit
Werasak Sasanakul
Najwa Yudhasompop
Lalita Mahaklan
Jarin Vaewpanich
Pimlak Charoenkwan
Somjai Kanjanapongkul
Anannit Visudtibhan
Pakawan Wongwerawattanakoon
author_sort Nongnuch Sirachainan
title R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children
title_short R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children
title_full R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children
title_fullStr R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children
title_full_unstemmed R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children
title_sort r147w in proc gene is a risk factor of thromboembolism in thai children
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85041324222&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/58981
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