Recommendations from the international stroke genetics consortium, part 1: standardized phenotypic data collection

Majersik, Jennifer J., Cole, John W., Golledge, Jonathan, Rost, Natalia S., Chan, Yu-Feng, Gurol, M. Edip, Lindgren, Arne G., Woo, Daniel, Fernandez-Cadenas, Israel, Chen, Donna T., Thijs, Vincent, Worrall, Bradford B., Kamal, Ayeesha, Bentley, Paul, Wardlaw, Joanna M., Ruigrok , Ynte M., Battey, Thomas W.K., Schmidt , Reinhold, Montaner , Joan, Giese, Anne-Katrin, Roquer, Jaume, Jiménez-Conde, Jordi, Lee, Chaeyoung, Ay, Hakan, Martin , Juan Jose, Rosand, Jonathan, and Maguire, Jane (2015) Recommendations from the international stroke genetics consortium, part 1: standardized phenotypic data collection. Stroke, 46 (1). pp. 279-284.

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Risk and clinical outcome of stroke, as for nearly all complex conditions, is polygenic. Discovering influential genetic variants offers the promise of new and personalized treatments that will substantially reduce the devastating effects of stroke on global health. Adequate power to detect multiple genetic risk alleles requires large sample sizes. Although stroke is the second leading cause of death worldwide and a major contributor to adult disability, no individual center can collect sufficient samples on its own. Recognizing this challenge, in 2007, stroke researchers from around the world formed the International Stroke Genetics Consortium (ISGC, The ISGC mission is to identify genetic factors influencing stroke risk, prognosis, and treatment response by studying patients enrolled at centers around the globe. Although there has been notable early success, much work remains not only to achieve the ultimate goal of personalized medicine in stroke, finding genetic risk alleles, but also, more importantly, to develop comprehensive stroke risk assessments with actionable clinical results. Judging from developments in other complex diseases, such as diabetes mellitus and coronary artery disease, sample sizes of the order of 100 000 to 200 000 will be needed to identify the full range of genetic variation involved in stroke. Achieving such sample sizes requires even larger collaboration.

Item ID: 38642
Item Type: Article (Research - C1)
ISSN: 1524-4628
Keywords: cooperative behavior; genetics; genetics, population; outcome studies; phenotype risk factors; stroke
Funders: National Institute of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS), National Health and Medical Research Council (NHMRC), Queensland Health, Townsville Hospital Private Practice Trust Fund, Carlos III Institute (CI), Research Fund of Flanders (FWO), US Department of Veterans Affairs, Swedish Heart and Lung Foundation, Region Skåne, Skåne University Hospital, Freemasons Lodge of Instruction, King Gustaf V. and Queen Victoria's foundation, Lund University, Swedish Stroke Association, MRC Centres of Excellence in Neurodegeneration (COEN), Ministerio de Sanidad y Consumo, National Research Foundation of Korea (NRF)
Date Deposited: 25 May 2015 01:48
FoR Codes: 11 MEDICAL AND HEALTH SCIENCES > 1102 Cardiovascular Medicine and Haematology > 110201 Cardiology (incl Cardiovascular Diseases) @ 100%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920103 Cardiovascular System and Diseases @ 100%
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