The use of genome-wide eQTL associations in lymphoblastoid cell lines to identify novel genetic pathways involved in complex traits.

Of the associations between QTs and SNPs which showed consistent trans eQTL evidence (for diastolic blood pressure, triglycerides, crp and height), only one association, between height and rs1482455 (tagging eQTL SNP rs716618 with r 2 = 0.84) reached borderline significance (p = 0.01) in a meta-analysis of 5,828 females.

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Highly significant cis eQTLs (unrelated to disease/QT) have been found in LCLs [6] – [8] , [11] and some of these eQTLs findings were replicated in lymphocytes [6] , [13] .

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Stage III: Confirmation of associations between eQTL SNPs and QTs in twin cohort In Stage III, nominally significant eQTL SNPs and those in LD (r 2 >0.8) were tested for association with the QTs with which the relevant expression probes were previously correlated (Stage I), in the larger cohort of 2,905 female twins ( Figure 1 ).

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