The incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertension
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F24%3A10483771" target="_blank" >RIV/00064165:_____/24:10483771 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/24:10483771 RIV/00064190:_____/24:10001308
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=jmXB1PoIi5" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=jmXB1PoIi5</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1177/10760296241271369" target="_blank" >10.1177/10760296241271369</a>
Alternative languages
Result language
angličtina
Original language name
The incidence of the thrombophilic SNPs rs6025, rs1799963, rs2066865, rs2289252, and rs8176719 in chronic thromboembolic pulmonary hypertension
Original language description
Introduction: Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637). Methods: The SNPs of the following genes were investigated: F5 (F V Leiden, rs6025), F2 prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), F11 (rs2289252) and ABO (non-O, rs8176719) in both groups. Results:The study found that the rs1799963 variant was more common in patients with chronic thromboembolic pulmonary hypertension (CTEPH) compared to the control group (p < .0001). The GA heterozygous variant showed a significant increase with an odds ratio (OR) of 4.480 (95% CI: 2.344-8.562) or a finding by maximum likelihood analysis (MLA) with p < .0001. Additionally, there was a notable increase in the rs8176719 variant with p < .0001 in CTEPH patients. Both the homozygous G/G variant and the heterozygous -/G variant also showed an increase, with OR of 4.2317 (95% CI: 2.45571-7.2919) and 2.4324 (95% CI: 1.46435-4.0403) respectively, or MLA (p < .0001 and p .0006). The study also revealed a higher prevalence of the heterozygous C/T variant of rs2289252 in CTEPH patients, with an OR of 1.5543 (95% CI: 1.02503-2.3568) or MLA (p .0379). Conclusion: The study suggests that the observed gene polymorphisms F2 (rs1799963), ABO (rs8176719), and F11 (rs2289252) may play a role as independent heritable risk factors in the development of CTEPH.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Clinical and Applied Thrombosis/Hemostasis
ISSN
1076-0296
e-ISSN
1938-2723
Volume of the periodical
30
Issue of the periodical within the volume
January-December
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
10760296241271369
UT code for WoS article
001292733300001
EID of the result in the Scopus database
2-s2.0-85201432228