Bio-Repository of DNA in stroke (BRAINS): A study protocol

Abstract

BackgroundStroke is one of the commonest causes of mortality in the world and anticipated to be an increasing burden to the developing world. Stroke has a genetic basis and identifying those genes may not only help us define the mechanisms that cause stroke but also identify novel therapeutic targets. However, large scale highly phenotyped DNA repositories are required in order for this to be achieved.MethodsThe proposed Bio-Repository of DNA in Stroke (BRAINS) will recruit all subtypes of stroke as well as controls from two different continents, Europe and Asia. Subjects recruited from the UK will include stroke patients of European ancestry as well as British South Asians. Stroke subjects from South Asia will be recruited from India and Sri Lanka. South Asian cases will also have control subjects recruited.DiscussionWe describe a study protocol to establish a large and highly characterized stroke biobank in those of European and South Asian descent. With different ethnic populations being recruited, BRAINS has the ability to compare and contrast genetic risk factors between those of differing ancestral descent as well as those who migrate into different environments.

Genetics of ischaemic stroke

“…The fact that most of these studies have been conducted in individuals of European descent is a blot on the stroke genetic landscape with very little comparative data available in other populations, although establishment of high quality biobanks is now underway (eg, South Asia and Middle East) and is expected to deliver interesting results 113 114…”

Bio-repository of DNA in stroke: a study protocol of three ancestral populations

“…12 These sites were specifically chosen in areas with a high South Asian density allowing them to not only recruit stroke patients of European ancestry but also those of British South Asian ethnicity (). Similarly we aim to establish a large high-quality stroke repository of Indian stroke patients in the subcontinent, BRAINS-South Asia.…”

“…This effort complements our current Indian and Sri Lankan repository described previously. 12 BRAINS-South Asia will include a total of 3000 highly phenotyped ischaemic stroke patients and 3000 controls, of which approximately 1500 cases and 1500 controls have already been recruited. 12 …”

Joinville stroke biobank: study protocol and first year’s results

“…For instance, the Native American contribution is more pronounced in northern Brazil, the African contribution is more elevated in the north-east, and the south features a European predominance with few Native American and African influences 29 . Consequently, the JSB, unlike other biobanks 8,22,23 , comprises an ideal admixed population with great ethnic variability linked to epidemiological and clinical data, which may allow confirmation of polymorphisms found in specific populations, contributing to global understanding of genetic mechanisms involved in stroke.…”

“…In this scenario, it has been pointed out that well-established stroke biobanks with close collaboration between clinicians and geneticists are essential for supplying the biological and clinical information required for these large-scale studies 4,5,6 . To address these challenges specifically, recent cooperative efforts have been launched such as the Stroke Genetics Network and Bio-Repository of DNA in Stroke 7,8 . As defined by Brazilian regulatory guidelines, a biobank represents an organized collection of human biological material and associated data that are prospectively collected and stored for research purposes, in accordance with predefined technical, ethical and operational standards, under institutional responsibility and management.…”