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

Sunaina Yadav,Philippe Froguel,Paul Bentley,Ankita Maheshwari,Renata Schanz,Pankaj Sharma,Ranil De Silva,Padma Shrivastav,Jaspal Kooner,Julia Slark,Kameshwar Prasad,Muhammad Saleem Khan

doi:10.1186/1471-2350-12-34

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.

Highlights

Stroke is one of the commonest causes of mortality in the world and anticipated to be an increasing burden to the developing world
Over a four-decade period, stroke incidence rates increased from 52 per 100,000 person-years (1970-1979) to 117 per 100,000 personyears (2000-2008) and at this rate stroke is expected to become one of the major causes of death in South Asia [1]. While much of this increase may be attributed to changing lifestyles, a high percentage of all strokes occur without any obvious aetiological cause suggesting additional factors that contribute to the stroke risk variability between ethnic groups
For the study as a whole we have ~ 1500 cases with a similar number of controls, giving us 90% power to detect a relative risk (RR) of 1.29 at p < 0.0001 with a population allele frequency of 0.2

Summary

Introduction

Stroke is one of the commonest causes of mortality in the world and anticipated to be an increasing burden to the developing world. Over a four-decade period, stroke incidence rates increased from 52 per 100,000 person-years (1970-1979) to 117 per 100,000 personyears (2000-2008) and at this rate stroke is expected to become one of the major causes of death in South Asia [1] While much of this increase may be attributed to changing lifestyles, a high percentage of all strokes occur without any obvious aetiological cause suggesting additional factors that contribute to the stroke risk variability between ethnic groups. South Asians from the Indian sub-continent form the second largest ethnic group in the world and make up some 20% of the world’s population whereas Caucasian Europeans constitute about 13% Both ancestral populations have a genetically stratified structure [4,5] which has led to the wide belief that genetic underpinnings of disease in ethnic populations differ. Deciphering the molecular pathways underlying stroke in different populations offers the promise of therapies tailored to genetic (or racial) background, similar to the recognition of racial dependency of anti-hypertension treatment [13,14]

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