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] |
---|
Links: |
---|
Themen: |
−1461A/T |
---|
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 |
---|
LEADER | 01000naa a22002652 4500 | ||
---|---|---|---|
001 | NLM311874231 | ||
003 | DE-627 | ||
005 | 20231225143206.0 | ||
007 | cr uuu---uuuuu | ||
008 | 231225s2020 xx |||||o 00| ||eng c | ||
024 | 7 | |a 10.1177/1076029620935206 |2 doi | |
028 | 5 | 2 | |a pubmed24n1039.xml |
035 | |a (DE-627)NLM311874231 | ||
035 | |a (NLM)32609543 | ||
040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
041 | |a eng | ||
100 | 1 | |a Udomkittivorakul, Natsumon |e verfasserin |4 aut | |
245 | 1 | 0 | |a PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population |
264 | 1 | |c 2020 | |
336 | |a Text |b txt |2 rdacontent | ||
337 | |a ƒaComputermedien |b c |2 rdamedia | ||
338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
500 | |a Date Completed 27.04.2021 | ||
500 | |a Date Revised 27.04.2021 | ||
500 | |a published: Print | ||
500 | |a Citation Status MEDLINE | ||
520 | |a 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 | ||
650 | 4 | |a Journal Article | |
650 | 4 | |a promoter region of PROCgene | |
650 | 4 | |a protein C deficiency | |
650 | 4 | |a thromboembolism | |
650 | 4 | |a −1461A/T | |
650 | 4 | |a −1641A/G | |
650 | 4 | |a −1654A/T | |
650 | 7 | |a Protein C |2 NLM | |
700 | 1 | |a Sasanakul, Werasak |e verfasserin |4 aut | |
700 | 1 | |a Eu-Ahsunthornwattana, Jakris |e verfasserin |4 aut | |
700 | 1 | |a Chuansumrit, Ampaiwan |e verfasserin |4 aut | |
700 | 1 | |a Komwilaisak, Patcharee |e verfasserin |4 aut | |
700 | 1 | |a Songdej, Duantida |e verfasserin |4 aut | |
700 | 1 | |a Sirachainan, Nongnuch |e verfasserin |4 aut | |
773 | 0 | 8 | |i Enthalten in |t Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis |d 1998 |g 26(2020) vom: 01. Jan., Seite 1076029620935206 |w (DE-627)NLM094498261 |x 1938-2723 |7 nnns |
773 | 1 | 8 | |g volume:26 |g year:2020 |g day:01 |g month:01 |g pages:1076029620935206 |
856 | 4 | 0 | |u http://dx.doi.org/10.1177/1076029620935206 |3 Volltext |
912 | |a GBV_USEFLAG_A | ||
912 | |a GBV_NLM | ||
951 | |a AR | ||
952 | |d 26 |j 2020 |b 01 |c 01 |h 1076029620935206 |