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Chunk #8 — Materials and Methods — eQTL and Statistical Analysis

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Expression quantitative trait loci analysis identifies associations between genotype and gene expression in human intestine.
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Information on the genomic coordinates of genes based on human genome build GRCh37.p5 was downloaded from the National Center for Biotechnology Information. Cis-eQTL analysis was centered about regions of DNA, dubbed “windows,” containing an autosomal gene of interest along with the 50-kilobase (kb) sequence both upstream and downstream from its starting and end points. Alternative analysis with 1-megabase (mb) windows was also performed to encompass the wide range of window sizes used in previously reported eQTL studies. Only SNPs located in these intervals were included in this cis analysis, but those located in regions where intervals overlap were used more than once. Results were generated for individual markers as well as for clusters of markers in high LD. SNPs on the same chromosome, no farther than 200 kb apart for the 50-kb window analysis and 1.1 mb for the 1-mb window analysis, and with r2 values ≥0.5 were considered to be in high LD. Raw P values were corrected for multiple testing by the FDR method at an α level of 5%.