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Chunk #30 — Discussion

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Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
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The strengths of our study are the meticulous pruning of expression probes as present on the expression array, with regard to non-specific mapping in the human transcriptome, or harboring SNPs that might interfere with hybridization of probes to the array, resulting in false-positive eQTLs [33]. In addition, permutation schemes were applied, preserving the LD structure within subjects, also minimizing the detection of false-positive eQTLs. Finally, a two-stage approach, both for eQTLs discovery purposes and for the detection of novel SNP-ALS associations, ensures robustness of the results.