PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population

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.

Medienart:

E-Artikel

Erscheinungsjahr:

2020

Erschienen:

2020

Enthalten in:

Zur Gesamtaufnahme - volume:26

Enthalten in:

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis - 26(2020) vom: 01. Jan., Seite 1076029620935206

Sprache:

Englisch

Beteiligte Personen:

Udomkittivorakul, Natsumon [VerfasserIn]
Sasanakul, Werasak [VerfasserIn]
Eu-Ahsunthornwattana, Jakris [VerfasserIn]
Chuansumrit, Ampaiwan [VerfasserIn]
Komwilaisak, Patcharee [VerfasserIn]
Songdej, Duantida [VerfasserIn]
Sirachainan, Nongnuch [VerfasserIn]

Links:

Volltext

Themen:

−1461A/T
−1641A/G
−1654A/T
Journal Article
Promoter region of PROCgene
Protein C
Protein C deficiency
Thromboembolism

Anmerkungen:

Date Completed 27.04.2021

Date Revised 27.04.2021

published: Print

Citation Status MEDLINE

doi:

10.1177/1076029620935206

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM311874231