Stroke Genetics Network (SiGN) study: design and rationale for a genome-wide association study of ischemic stroke subtypes.

نویسندگان

  • James F Meschia
  • Donna K Arnett
  • Hakan Ay
  • Robert D Brown
  • Oscar R Benavente
  • John W Cole
  • Paul I W de Bakker
  • Martin Dichgans
  • Kimberly F Doheny
  • Myriam Fornage
  • Raji P Grewal
  • Katrina Gwinn
  • Christina Jern
  • Jordi Jimenez Conde
  • Julie A Johnson
  • Katarina Jood
  • Cathy C Laurie
  • Jin-Moo Lee
  • Arne Lindgren
  • Hugh S Markus
  • Patrick F McArdle
  • Leslie A McClure
  • Braxton D Mitchell
  • Reinhold Schmidt
  • Kathryn M Rexrode
  • Stephen S Rich
  • Jonathan Rosand
  • Peter M Rothwell
  • Tatjana Rundek
  • Ralph L Sacco
  • Pankaj Sharma
  • Alan R Shuldiner
  • Agnieszka Slowik
  • Sylvia Wassertheil-Smoller
  • Cathie Sudlow
  • Vincent N S Thijs
  • Daniel Woo
  • Bradford B Worrall
  • Ona Wu
  • Steven J Kittner
چکیده

BACKGROUND AND PURPOSE Meta-analyses of extant genome-wide data illustrate the need to focus on subtypes of ischemic stroke for gene discovery. The National Institute of Neurological Disorders and Stroke SiGN (Stroke Genetics Network) contributes substantially to meta-analyses that focus on specific subtypes of stroke. METHODS The National Institute of Neurological Disorders and Stroke SiGN includes ischemic stroke cases from 24 genetic research centers: 13 from the United States and 11 from Europe. Investigators harmonize ischemic stroke phenotyping using the Web-based causative classification of stroke system, with data entered by trained and certified adjudicators at participating genetic research centers. Through the Center for Inherited Diseases Research, the Network plans to genotype 10,296 carefully phenotyped stroke cases using genome-wide single nucleotide polymorphism arrays and adds to these another 4253 previously genotyped cases, for a total of 14,549 cases. To maximize power for subtype analyses, the study allocates genotyping resources almost exclusively to cases. Publicly available studies provide most of the control genotypes. Center for Inherited Diseases Research-generated genotypes and corresponding phenotypes will be shared with the scientific community through the US National Center for Biotechnology Information database of Genotypes and Phenotypes, and brain MRI studies will be centrally archived. CONCLUSIONS The Stroke Genetics Network, with its emphasis on careful and standardized phenotyping of ischemic stroke and stroke subtypes, provides an unprecedented opportunity to uncover genetic determinants of ischemic stroke.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Design and Rationale for a Genome-Wide Association Study of Ischemic Stroke Subtypes

Background and Purpose—Meta-analyses of extant genome-wide data illustrate the need to focus on subtypes of ischemic stroke for gene discovery. The National Institute of Neurological Disorders and Stroke SiGN (Stroke Genetics Network) contributes substantially to meta-analyses that focus on specific subtypes of stroke. Methods—The National Institute of Neurological Disorders and Stroke SiGN inc...

متن کامل

Heritability for Stroke: Essential for Taking Family History

 There are many well-established factors that influence the risk of stroke including blood pressure, diabetes, low socioeconomic status and smoking, however, the shared genetic resource in members of a family effect on stroke predisposition. Genome-wide association studies (GWAS) have demonstrated evidence of a shared genetic source in stroke risk. This review considered the influence of family...

متن کامل

Evaluation of Homocysteine Level as a Risk Factor among Patients with Ischemic Stroke and Its Subtypes

Background: Epidemiological research has shown that increased total homocysteine (tHcy) levels are associated with an increased risk of thromboembolic disease; however, controversy still exists over which subtype of stroke is allied to hyperhomocysteinemia. This study aimed to investigate whether elevated tHcy is an independent risk factor for ischemic stroke and to compare tHcy levels in patie...

متن کامل

Design and rationale for examining neuroimaging genetics in ischemic stroke

OBJECTIVE To describe the design and rationale for the genetic analysis of acute and chronic cerebrovascular neuroimaging phenotypes detected on clinical MRI in patients with acute ischemic stroke (AIS) within the scope of the MRI-GENetics Interface Exploration (MRI-GENIE) study. METHODS MRI-GENIE capitalizes on the existing infrastructure of the Stroke Genetics Network (SiGN). In total, 12 i...

متن کامل

Coarse Tremor as the Only Sign of Perinatal Hemorrhagic Stroke: A Case Report

Background: Tremor which is the most common abnormal movement in the neonatal period might be a benign condition or the result of pathologic events and is divided into two subtypes, namely fine tremor and coarse tremor. Fine tremor is usually benign and results from some metabolic disturbance, such as hypoglycemia. On the other hand, coarse tremor is an indicator of brain insult and should be r...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:
  • Stroke

دوره 44 10  شماره 

صفحات  -

تاریخ انتشار 2013