Academic Journal
Association of the PROC rs146922325 variant with venous thrombosis in a Taiwanese population.
| Τίτλος: | Association of the PROC rs146922325 variant with venous thrombosis in a Taiwanese population. |
|---|---|
| Συγγραφείς: | Chen CY; Division of Pediatric Hematology and Oncology, Children's Medical Center, Taichung Veterans General Hospital, Taichung, Taiwan., Chen IC; Department of Medical Research, Taichung Veterans General Hospital, 1650 Taiwan Boulevard Sect. 4, Taichung, 40705, Taiwan. icchen@vghtc.gov.tw.; Master Program in Precision Health, National Chung Hsing University, Taichung, Taiwan. icchen@vghtc.gov.tw., Lin GC; Department of Medical Research, Taichung Veterans General Hospital, 1650 Taiwan Boulevard Sect. 4, Taichung, 40705, Taiwan., Hsiao TH; Department of Medical Research, Taichung Veterans General Hospital, 1650 Taiwan Boulevard Sect. 4, Taichung, 40705, Taiwan.; Department of Public Health, Fu Jen Catholic University, New Taipei City, Taiwan.; Institute of Genomics and Bioinformatics, National Chung Hsing University, Taichung, Taiwan., Wang JD; Division of Pediatric Hematology and Oncology, Children's Medical Center, Taichung Veterans General Hospital, Taichung, Taiwan. wangjiaander@gmail.com.; Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, 1650 Taiwan Boulevard Sect. 4, Taichung, 40705, Taiwan. wangjiaander@gmail.com.; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan. wangjiaander@gmail.com. |
| Πηγή: | Blood research [Blood Res] 2026 Aug 31; Vol. 61 (1). Date of Electronic Publication: 2026 Aug 31. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Springer Nature Country of Publication: Switzerland NLM ID: 101605247 Publication Model: Electronic Cited Medium: Print ISSN: 2287-979X (Print) Linking ISSN: 2287979X NLM ISO Abbreviation: Blood Res Subsets: PubMed not MEDLINE |
| Imprint Name(s): | Publication: 2024- : [Cham, Switzerland] : Springer Nature Original Publication: Seoul : Korean Society of Hematology |
| Περίληψη: | Background: Hereditary protein C deficiency, caused by pathogenic variants in the PROC gene, is a known risk factor for venous thrombosis. However, data on PROC variants in Asian populations are limited. This study evaluated the clinical relevance of rs146922325 and its association with thrombotic outcomes in Taiwanese patients. Methods: Using genotyping data from a single-nucleotide polymorphism array as part of the Taiwan Precision Medicine Initiative, we conducted a retrospective case-control study that included 805 carriers of the PROC rs146922325 variant and 8,050 age- and sex-matched non-carriers. The baseline characteristics, coagulation profiles, and thrombotic outcomes were systematically compared. Univariable and multivariable logistic regression analyses were performed to assess the association between rs146922325 and venous thrombosis. Sensitivity analyses were conducted by restricting the cohort to warfarin-naïve participants and incident venous thrombosis events occurring after genotyping. Results: Carriers of the rs146922325 T allele exhibited significantly lower protein C levels than non-carriers (71.28% vs. 114.58%, p < 0.001) and a higher prevalence of venous thrombosis (4.10% vs. 2.48%; p = 0.009). After multivariable adjustment, rs146922325 carrier status remained independently associated with an increased risk of venous thrombosis (adjusted odds ratio [aOR], 1.61; p = 0.015). Allelic analysis further indicated that the T allele was associated with elevated thrombotic risk (aOR, 1.74; p = 0.004). No clear dose-response pattern was observed because of the limited number of homozygous TT individuals. Sex-stratified analyses suggested a similar association across sexes; however, the sex × genotype interaction was not statistically significant. Conclusion: The PROC rs146922325 variant was associated with an increased risk of venous thrombosis in the Taiwanese population. These findings expand the current knowledge of PROC-related thrombophilia in East Asians and support the potential value of genetic risk stratification in thrombosis research. (© 2026. The Author(s).) |
| Competing Interests: | Declarations. Ethics approval and consent to participate: The study was approved by the Institutional Review Boards of all participating sites in Taiwan (IRB TCVGH No.: CE24280B). All participants provided written informed consent in accordance with the Declaration of Helsinki. Competing interests: The authors declare no competing interests. |
| References: | Res Pract Thromb Haemost. 2020 Oct 20;4(8):1295-1300. (PMID: 33313468) Thromb Haemost. 2013 Apr;109(4):614-24. (PMID: 23389250) Haematologica. 2014 Mar;99(3):561-9. (PMID: 24162787) N Engl J Med. 1987 Oct 15;317(16):991-6. (PMID: 3657866) J Thromb Haemost. 2011 Jul;9 Suppl 1:92-104. (PMID: 21781245) Int J Mol Sci. 2023 Feb 05;24(4):. (PMID: 36834580) Thromb Res. 2015 May;135(5):923-32. (PMID: 25784135) Expert Opin Pharmacother. 2001 Mar;2(3):431-9. (PMID: 11336597) Front Genet. 2021 Oct 26;12:736390. (PMID: 34764980) J Thromb Haemost. 2022 Jul;20(7):1735-1743. (PMID: 35570324) N Engl J Med. 2001 Apr 19;344(16):1222-31. (PMID: 11309638) J Thromb Haemost. 2012 Oct;10(10):2019-26. (PMID: 22817391) Haemophilia. 2008 Nov;14(6):1214-21. (PMID: 19141162) Am J Hematol. 2004 May;76(1):8-13. (PMID: 15114590) Blood. 1989 Feb 15;73(3):712-7. (PMID: 2521802) J Clin Invest. 1981 Nov;68(5):1370-3. (PMID: 6895379) Gigascience. 2015 Feb 25;4:7. (PMID: 25722852) PLoS One. 2012;7(4):e35773. (PMID: 22545135) Thromb Res. 2000 Sep 1;99(5):447-52. (PMID: 10973672) Thromb Res. 2020 Jan;185:153-159. (PMID: 31821907) Thromb Haemost. 1997 Jul;78(1):631-5. (PMID: 9198229) Pharmacogenomics. 2008 Feb;9(2):235-46. (PMID: 18370851) Thromb Res. 1995 Jan 1;77(1):1-43. (PMID: 7701473) J Biol Chem. 1994 Jul 22;269(29):18735-8. (PMID: 8034625) Arch Pathol Lab Med. 2019 Oct;143(10):1281-1285. (PMID: 30702334) NPJ Genom Med. 2021 Feb 11;6(1):10. (PMID: 33574314) Mediterr J Hematol Infect Dis. 2011;3(1):e2011054. (PMID: 22220251) Thromb Haemost. 1997 Sep;78(3):1030-6. (PMID: 9308749) Thromb Haemost. 2020 Sep;120(9):1270-1281. (PMID: 32717757) Arch Pathol Lab Med. 2002 Nov;126(11):1337-48. (PMID: 12421141) BMC Bioinformatics. 2007 Mar 08;8 Suppl 1:S11. (PMID: 17430555) Blood. 1995 May 15;85(10):2756-61. (PMID: 7742536) |
| Grant Information: | TCVGH-1143903B and TCVGH-1153908B Taichung Veterans General Hospital |
| Contributed Indexing: | Keywords: PROC rs146922325; Protein C deficiency; Venous thrombosis |
| Entry Date(s): | Date Created: 20260831 Date Completed: 20260831 Latest Revision: 20260903 |
| Update Code: | 20260903 |
| PubMed Central ID: | PMC13530107 |
| DOI: | 10.1007/s44313-026-00168-9 |
| PMID: | 42671779 |
| Βάση Δεδομένων: | MEDLINE |
καταχωρήστε σχόλιο πρώτοι!