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Chunk #4 — IDENTIFICATION OF SUSCEPTIBILITY LOCI AND GENES — Association Studies

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Genetic and environmental factors in complex neurodevelopmental disorders.
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Numerous association studies have been performed to test for association between genetic variations and neurodevelopmental disorders [2, 3]. Compared to linkage analysis, one important advantage of association studies concerns its improved power when equal cohort sizes are used [4]. In association studies, the genotype or allele frequencies of genetic variations between patients and controls (non-related individuals; case-control design) or between parents and their offspring (related individuals; family-based design) is compared. For the case-control design, a more than by chance predicted difference in the frequency of a single-nucleotide polymorphism (SNP) between the cases and controls indicates that the specific polymorphism may increase or decrease risk for the disorder, or is in linkage disequilibrium with a nearby genetic variant. The frequencies of genetic varations may vary among individuals from a different geographical or ethnical background and therefore a well-defined cohort is necessary. For family-based association studies, the parents function as the controls for the affected offspring (so-called trio-study). If the SNP is transmitted from the parents to the offspring as expected by chance alone, no association with the disorder is present. Transmission