Related Experiment Video

Updated: Feb 7, 2026

A Multicenter MRI Protocol for the Evaluation and Quantification of Deep Vein Thrombosis
10:26

A Multicenter MRI Protocol for the Evaluation and Quantification of Deep Vein Thrombosis

Published on: June 2, 2015

18.0K

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

Marcin M Gorski1, Hugoline G de Haan2, Ilaria Mancini1

  • 1Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

Thrombosis Research
|July 21, 2018
PubMed

Insights

Cerebral vein thrombosis (CVT) risk is linked to a common variant in the ABO gene. Next-generation sequencing did not find significant associations with rare genetic variants for this rare disease.

Area of Science:

  • Genetics
  • Thrombosis Research
  • Molecular Biology

Background:

  • Cerebral vein thrombosis (CVT) is a rare but serious condition with known genetic risk factors like anticoagulant protein deficiencies and specific gene mutations.
  • However, the genetic basis for CVT remains unexplained in a significant portion of patients.
  • Identifying novel genetic factors is crucial for understanding CVT pathogenesis and improving risk prediction.

Purpose of the Study:

  • To discover new genetic risk factors for cerebral vein thrombosis (CVT).
  • Utilize targeted next-generation DNA sequencing (NGS) to analyze candidate genes involved in hemostasis and inflammation.
  • Investigate both common and rare genetic variants in CVT patients compared to healthy controls.

Main Methods:

  • Conducted targeted next-generation sequencing (NGS) on 171 CVT patients and 298 controls.
  • Analyzed protein-coding regions of 734 candidate genes, alongside 150 ancestry markers and 28 thrombosis-associated variants.
  • Employed logistic regression for single variant association and burden tests for rare variants.

Main Results:

  • Identified 3723 common variants (MAF >1%) and 8839 rare variants (MAF ≤1%).
  • A significant association was found between the rs8176719 insertion/deletion (indel) variant in the ABO gene and CVT (OR 2.03, P=2.07×10-6).
  • Gene-based analysis of rare variants showed a tentative association with non-coding variants in the F8 locus.

Conclusions:

  • Targeted NGS successfully identified a common ABO gene variant (rs8176719 indel) associated with cerebral vein thrombosis.
  • No significant cumulative burden of rare variants across specific genomic loci was found to be associated with CVT.
  • Further research may be needed to explore the role of rare variants and other genetic factors in CVT.
Abstract

Keywords:
ABO blood groupCerebral vein thrombosisNext-generation DNA sequencingrs8176719

More Related Videos

Enhanced Yeast One-hybrid Screens To Identify Transcription Factor Binding To Human DNA Sequences11:25

Enhanced Yeast One-hybrid Screens To Identify Transcription Factor Binding To Human DNA Sequences

Published on: February 11, 2019

8.5K
New Thrombectomy Technique for Total Portal Vein Thrombosis in Liver Transplantation08:45

New Thrombectomy Technique for Total Portal Vein Thrombosis in Liver Transplantation

Published on: June 27, 2025

1.6K

Related Concept Videos

Factors Affecting the Risk of Infection01:26

Factors Affecting the Risk of Infection

The hosts' susceptibility to infection depends on several factors. The integrity of the skin and mucous membranes helps protect the body against microbial attacks. When the skin is altered, the chance of infection, limb loss, and even death increases.
The integrity and count of the white blood cells help the body resist pathogens and fight infection. When impaired, it reduces the body's resistance to pathogens. The acidic pH levels of the gastrointestinal, genitourinary tracts, and skin...
13.7K
DNA as a Genetic Template02:05

DNA as a Genetic Template

Two structural features of the DNA molecule provide a basis for the mechanisms of heredity: the four nucleotide bases and its double-stranded nature. The Watson-Crick model of double-helical DNA structure, proposed in 1952, drew heavily upon the X-ray crystallography work of researchers Rosalind Franklin and Maurice Wilkins. Watson, Crick, and Wilkins jointly received the Nobel Prize in Physiology or Medicine for their work in 1962. Franklin was, controversially, excluded from the prize for...
27.9K
DNA as a Genetic Template02:05

DNA as a Genetic Template

9.5K
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
98.7K
From DNA to Protein03:06

From DNA to Protein

The flow of genetic information in cells from DNA to mRNA to protein is described by the central dogma, which states that genes specify the sequence of mRNAs, which in turn specify the sequence of amino acids making up all proteins. The decoding of one molecule to another is performed by specific proteins and RNAs. Because the information stored in DNA is so central to cellular function, it makes intuitive sense that the cell would make mRNA copies of this information for protein synthesis...
22.5K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
9.3K