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Chunk #45 — Discussion — Associations between allelic scores and WTCCC disease status

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Mining the human phenome using allelic scores that index biological intermediates.
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Similar results were also seen for the allelic scores which indexed LDLc. Whilst the allelic score consisting of known variants only correlated with CHD as expected, the genome-wide allelic score showed unexpected nominal correlations with other diseases including hypertension and type I diabetes. As the genome-wide score explained less variance in the intermediate than the allelic score derived from the known variants, we believe that this association also reflects unwanted genetic pleiotropy and lack of specificity in the genome-wide score for similar reasons alluded to above.