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Next-generation DNA sequencing to identify novel genetic risk factors for cerebral vein thrombosis.

Abstract：

BACKGROUND:Cerebral vein thrombosis (CVT) is a rare, life-threatening disease affecting one adult per 100,000 per year. Genetic risk factors are deficiencies of the natural anticoagulant proteins antithrombin, protein C, protein S or single nucleotide polymorphisms such as factor V Leiden and prothrombin 20210A. In 20% of patients, the cause of CVT remains unknown. AIM:To identify novel genetic risk factors for CVT using targeted next-generation DNA sequencing (NGS). METHODS:We investigated 171 CVT patients and 298 healthy controls. Patients were selected using the following criteria: objective diagnosis of CVT, no active cancer. We performed targeted NGS analysis of the protein-coding regions of 734 candidate genes related to hemostasis and inflammation, 150 ancestry informative markers and 28 thrombosis-associated variants. RESULTS:We identified 3723 common and low frequency variants with minor allele frequency (MAF) >1% in 590 genes. Single variant association testing using logistic regression analysis identified rs8176719 insertion/deletion (indel) variant in the ABO gene associated with CVT (age and sex adjusted OR 2.03; 95% CI 1.52-2.73; P = 2.07 × 10-6; Bonferroni P = 0.008). In addition, we identified 8839 rare variants (MAF ≤ 1%) in 723 genes. Gene-based association analysis of these rare variants using a burden test revealed only a tentative association of non-coding variants located in the F8 locus with CVT. CONCLUSION:Targeted NGS identified a common indel variant rs8176719 in the ABO gene. Gene-based tests of association failed to reveal genomic loci with a cumulative burden of rare variants associated with CVT.

journal_name

Thromb Res

journal_title

Thrombosis research

authors

Gorski MM,de Haan HG,Mancini I,Lotta LA,Bucciarelli P,Passamonti SM,Cairo A,Pappalardo E,van Hylckama Vlieg A,Martinelli I,Rosendaal FR,Peyvandi F

doi

10.1016/j.thromres.2018.06.011

subject

Has Abstract

pub_date

2018-09-01 00:00:00

pages

76-81

eissn

0049-3848

issn

1879-2472

pii

S0049-3848(18)30385-2

journal_volume

169

pub_type

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