Publication: PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population
Issued Date
2020-01-01
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ISSN
19382723
10760296
10760296
Other identifier(s)
2-s2.0-85087288099
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Mahidol University
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SCOPUS
Bibliographic Citation
Clinical and Applied Thrombosis/Hemostasis. Vol.26, (2020)
Suggested Citation
Natsumon Udomkittivorakul, Werasak Sasanakul, Jakris Eu-ahsunthornwattana, Ampaiwan Chuansumrit, Patcharee Komwilaisak, Duantida Songdej, Nongnuch Sirachainan PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population. Clinical and Applied Thrombosis/Hemostasis. Vol.26, (2020). doi:10.1177/1076029620935206 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/58303
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Title
PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population
Abstract
© The Author(s) 2020. Protein C (PC) deficiency, caused by mutations of the PROC gene, is a common inherited risk factor of thromboembolism (TE) among Thai people. This study aimed to investigate the association of 3 single nucleotide polymorphisms (SNPs; −1654 C/T, −1641 A/G, −1461A/T) at the PROC promoter region with PC activity and the risk of developing TE. A total of 216 patient s with TE, diagnosed at aged 0 to 20 years, and 102 healthy adults were enrolled. The SNPs were identified by Sanger sequencing. Protein C activity was measured using an automated functional clotting assay. Linear and logistic regression analyses were used to determine the association of SNPs with PC activity and the risk of TE. Patients and controls with homozygous TAA (119.6% ± 26.1%) and CGT haplotypes (102.7% ± 22.6%) had significantly lower PC activity than those with a homozygous CAA haplotype (140.4% ± 44.9%); P =.027 and.016, respectively. However, none of these haplotypes increased the risk of TE. This study suggested that the 3 PROC promoter SNPs were shown to be associated with lower PC activity but did not increase the risk of TE.