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Related Experiment Video

Updated: Jun 24, 2026

The Stroke Preclinical Assessment Network Multi-Laboratory Model of Thromboembolic Stroke with Thrombolysis: TE-MCAo

The Stroke Preclinical Assessment Network Multi-Laboratory Model of Thromboembolic Stroke with Thrombolysis: TE-MCAo

Published on: December 19, 2025

Genomewide association studies of stroke.

M Arfan Ikram¹, Sudha Seshadri, Joshua C Bis

¹Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

The New England Journal of Medicine

|April 17, 2009

Summary

Genetic analysis identified a new stroke risk locus on chromosome 12p13 near the NINJ2 gene. This finding contributes to understanding stroke genetics and may inform future risk prediction.

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The Stroke Preclinical Assessment Network Multi-Laboratory Model of Thromboembolic Stroke with Thrombolysis: TE-MCAo

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Published on: December 19, 2025

A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia

A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia

Published on: August 18, 2015

Area of Science:

Genomics
Cardiovascular Disease Genetics
Neurology

Background:

The genetic factors contributing to stroke risk in the general population are not fully understood.
Identifying these genetic determinants is crucial for understanding stroke etiology and developing preventative strategies.

Purpose of the Study:

To identify novel genetic loci associated with stroke risk using genomewide association studies.
To investigate the role of specific genetic markers, particularly near the NINJ2 gene, in stroke incidence.

Main Methods:

Analysis of genomewide association data from over 19,000 individuals in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
Replication analysis in independent cohorts of white, black, and Dutch individuals to validate findings.
Direct genotyping of single-nucleotide polymorphisms (SNPs) to assess their association with total and ischemic stroke risk.

Main Results:

Two intergenic SNPs on chromosome 12p13, near the NINJ2 gene, were significantly associated with stroke (P<5x10(-8)).
The SNP rs12425791 demonstrated a consistent association with increased risk for total and ischemic stroke across discovery and replication cohorts, with hazard ratios ranging from 1.17 to 1.42.
The identified genetic locus explained a population attributable risk of 11-12% for stroke in the discovery cohorts.

Conclusions:

A genetic locus on chromosome 12p13, in proximity to the NINJ2 gene, is associated with an increased risk of stroke.
This discovery provides a new target for understanding stroke pathogenesis and potentially for genetic risk stratification.