Candidate gene association studies in stroke

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Stroke Genetics, 2013, pp. 9 - 23
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Although some forms of stroke are inherited in a Mendelian manner, being caused by a single genetic locus of strong effect, most strokes are sporadic and, like other complex diseases such as asthma and diabetes mellitus, have a genetic component that is complex and involves multiple loci of modest effect. Controversy surrounds whether these genetic variants are likely to be common (>1–5% prevalence) across most populations, each with very small effect sizes (the so-called common diseasecommon variant hypothesis), or whether these variants are likely to be rare (<1%), perhaps even unique to families or individuals, with larger effect sizes (the socalled common disease-rare variant hypothesis). In either case, a common approach over the last 10 years has been to test association between common genetic variants and stroke using traditional population-based designs such as case-control and cohort studies.
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