Ischemic stroke susceptibility gene research: Lessons we learned

Bela I. Melegh, Anita Maasz, Peter Kisfali, Katalin Sumegi, Balazs Duga, Gyorgy Kosztolanyi, Samuel Komoly, Bela Melegh

Research output: Chapter in Book/Report/Conference proceedingChapter


In molecular-genetic research of stroke, candidate gene association studies, linkage studies and genome-wide association studies have proved the role of genetic factors as risk factors for the development of ischemic stroke. This research had been initiated approximately 1.5 decade ago, and three major blocks of research approaches can be separated. In the first wave of trials the classic susceptibility markers discovered originally in relation of other diseases like cardio vascular disease, affecting different pathways, such as the inflammatory and haemostatic system, homocysteine metabolism and the renin-angiotensin-aldosterone system were tested also for stroke. Very numerous reports had been presented about the "classical" factors in different populations; the articles used biobanks with just a couple of hundreds or even less samples. In the second and still ongoing group, which is a kind of bridge between the two other blocks of studies, the spectrum of candidate genes rapidly increased, functional variants of genes or genomic regions still discovered primarily in relation to other diseases, were tested on larger stroke biobanks of clinically better stratified patients, large number of these alleles were originally discovered by array based genome-wide association studies. The third period of research had been started with the dramatic spread of the direct array screening of the large biobank samples; this approach represent still a huge significance in the further progress. What we learned is that the careful stratification of patients is critical and obligatory; the susceptibility alleles are often shared; not all susceptibility factors, that associate with clinical traits that can be itself a risk factor to stroke (like increase of triglycerides), are necessarily represent susceptibility for stroke. The studies still mainly focus on large and small vessel associated stroke, and the knowledge on other types of stroke which represent much smaller population samples are still very scarce. Albeit some susceptibility allele tests are on the palette of some direct-to-consumer (DTC) companies, the clinical utility and clinical validity of these test results still does not support their use in the patient care.

Original languageEnglish
Title of host publicationIschemic Stroke
Subtitle of host publicationSymptoms, Prevention and Recovery
PublisherNova Science Publishers, Inc.
Number of pages27
ISBN (Print)9781622577996
Publication statusPublished - Dec 1 2012


ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)

Cite this

Melegh, B. I., Maasz, A., Kisfali, P., Sumegi, K., Duga, B., Kosztolanyi, G., Komoly, S., & Melegh, B. (2012). Ischemic stroke susceptibility gene research: Lessons we learned. In Ischemic Stroke: Symptoms, Prevention and Recovery (pp. 117-143). Nova Science Publishers, Inc..