Association between prothrombin gene polymorphisms and hereditary thrombophilia in Xinjiang Kazakhs population

Ge, Xiaohu; Zhu, Feng; Wang, Binglin; Wang, Changmin; Zhu, Bing; Sheng, Guan; Ci, Hongbo; Sai, Li-mu; Jiang, Xiao-kui; Ren, Hao; Fang, Qingbo; Tian, Guanglei

doi:10.1097/mbc.0b013e328364ba00

Cited by 3 publications

(4 citation statements)

References 17 publications

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“…The location and missense of the F2 variant suggest that it may exert an effect on the prothrombin function and destroy the vascular integrity during development and postnatal life (from the NCBI Reference Sequence Database). Previous research also observed the T165M variant located in F2 gene in the Xinjiang Kazakhs population, where it was associated with thrombophilia (17). …”

Section: Discussionmentioning

confidence: 68%

“…Following this filtration, only one variant (NM_000506:c.C494T:p.T165M;rs5896) was located in the candidate region. The variant is a homozygote missense mutation that has not previously been observed in Han Chinese population by other researchers, but this variant was reported as a genetic risk factor associated with thrombophilia in the Xinjiang Kazakh population (17). …”

Section: Resultsmentioning

confidence: 88%

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A genetic risk factor for thrombophilia in a Han Chinese family

Sun

Jia

Meng

et al. 2017

Molecular Medicine Reports

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Thrombophilia is a multifactorial disorder involving environmental and genetic factors. Well-known factors that result in predisposition to congenital disorders associated with thrombophilia include antithrombin deficiency, protein C and S deficiency, Factor V Leiden mutation, abnormal prothrombin and antiphospholipid syndrome. The present study revealed an association between a mutation of the F2 gene, which codes for coagulation factor II, thrombin, and the risk of thrombophilia in a Han Chinese family, of which four members (I-2, II-2, II-3 and III-1) had a history of deep venous thromboembolism. The disease was measured in this family using laboratory measurements and computed tomography angiography. To identify the abnormality underlying the increased thrombophilia risk, whole-exome sequencing technology was used to analyze two affected individuals (II-2 and III-1). An exonic missense F2 mutation, T165M (NM_000506:c.C494T:p.T165M;rs5896), was identified from a total of 2,222 and 2,203 genetic variations observed in the two affected individuals, respectively, which were subsequently filtered and confirmed using Sanger sequencing. I-2, II-3 and III-1 shared this mutation with the proband (II-2), and II-6 had a heterozygous form of the mutation. This deleterious mutation was not identified in normal controls. The present study may improve understanding of the function of the F2 gene.

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Section: Discussionmentioning

confidence: 68%

Section: Resultsmentioning

confidence: 88%

A genetic risk factor for thrombophilia in a Han Chinese family

Sun

Jia

Meng

et al. 2017

Molecular Medicine Reports

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“…There are few studies concerning Thr165Met published so far. However, authors report that it is a genetic marker of thrombophilia, and even in heterozygous form it is also associated with the risk for venous thrombosis [ 30 , 31 ]. These works report on family thrombosis in patients who are both homo- and heterozygous for the Thr165Met mutation.…”

Section: Discussionmentioning

confidence: 99%

Role of Genetic Thrombophilia Markers in Thrombosis Events in Elderly Patients with COVID-19

Fevraleva

Mamchich

Виноградов

et al. 2023

Genes

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Thrombosis is an extremely dangerous complication in elderly patients with COVID-19. Since the first months of the pandemic, anticoagulants have been mandatory in treatment protocols for patients with COVID-19, unless there are serious contraindications. We set out to discover if genetic thrombophilia factors continue to play a triggering role in the occurrence of thrombosis in patients with COVID-19 with prophylactic or therapeutic anticoagulants. We considered the following genetic markers as risk factors for thrombophilia: G1691A in the FV gene, C677T and A1298C in the MTHFR gene, G20210A and C494T in the FII gene, and (−675) 4G/5G in the PAI-I gene. In a cohort of 176 patients, we did not obtain a reliable result indicating a higher risk of thrombotic complications when taking therapeutic doses of anticoagulants in carriers of genetic markers for thrombophilia except the C494T mutation in the FII gene. However, there was still a pronounced tendency to a higher incidence of thrombosis in patients with markers of hereditary thrombophilia, such as FV G1691A and FII G20210A mutations. The presence of the C494T (Thr165Met) allele in the FII gene in this group of patients showed a statistically significant effect of the mutation on the risk of thrombotic complications despite anticoagulant therapy.

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“…According to the results of our family study, the proband’s mother carried c.494C > T (p.Thr165Met), which is thought to be related to Xinjiang Kazakh thrombotic disease ( Ge et al, 2014 ) and may play a role in kidney stone disease ( Rungroj et al, 2012 ). However, the association of this mutation with Xinjiang Kazakh thrombotic disease may be the result of the interaction of genes and complex environmental factors.…”

Section: Discussionmentioning

confidence: 99%

Genetic Analysis of a Pedigree With Antithrombin and Prothrombin Compound Mutations and Antithrombin Heterozygotes

Pan

et al. 2022

Front. Genet.

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Background and Aims: Antithrombin (AT) is the most important physiological inhibitor in vivo, and coagulation factor II (FII) or prothrombin is a coagulation factor vital to life. The purpose of our research was to illustrate the connection between gene mutations and the corresponding deficiencies of AT and FII.Methods: Functional and molecular analyses were performed. The possible impact of the mutation was analyzed by online bioinformatics software. ClustalX-2.1-win and PyMol/Swiss-Pdb Viewer software were used for conservative analyses and to generate molecular graphic images, respectively.Results: The proband showed a lower limb venous thrombosis and acute pulmonary embolism infarction with reduced AT activity (50%). His mother, with subcutaneous ecchymosis, had reduced activities of AT and FII, of 44 and 5%, respectively. Molecular analysis showed that both the proband and his mother carried c.964A > T (p.Lys322stop) heterozygotes in SERPINC1. The difference was that his mother carried homozygous c.494C > T (p.Thr165Met) in F2, while the proband was wild type. Bioinformatics and model analysis indicated that mutations may destroy the function and structure of AT and FII protein.Conclusion: This study identified a novel mutation of SERPINC1 and a missense mutation of F2, which may be the molecular mechanism leading to AT and FII deficiency in this family. It will help genetic diagnosis and counseling for thrombotic families.

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Association between prothrombin gene polymorphisms and hereditary thrombophilia in Xinjiang Kazakhs population

Cited by 3 publications

References 17 publications

A genetic risk factor for thrombophilia in a Han Chinese family

A genetic risk factor for thrombophilia in a Han Chinese family

Role of Genetic Thrombophilia Markers in Thrombosis Events in Elderly Patients with COVID-19

Genetic Analysis of a Pedigree With Antithrombin and Prothrombin Compound Mutations and Antithrombin Heterozygotes

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