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Chunk #32 — Phenotyping — Biomarkers

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The genetics of addiction-a translational perspective.
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Similarly, biomarkers are intermediate phenotypes that are related to disorder and can be a consequence of it. For instance, liver function tests (for example, gammaglutamyl transferase) or carbohydrate-deficient transferrin are commonly used to examine the impact of prolonged alcohol use. Unlike endophenotypes, which can be used to putatively predict likelihood of disorder, these biomarkers are diagnostic aids that facilitate clinical management of addictions. They are also promising targets for gene association studies. Using various carbohydrate-deficient transferrin indices, and adjusting for alcohol intake, a recent GWAS isolated the highly significant independent effects of variants in the transferrin (TF, P=5.5 × 10−43), and phosphoglucomutase 1 (PGM1, P=2 × 10−9) genes on carbohydrate-deficient transferrin.126