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The two index variants were correlated with each other and to similar environmental parameters.
They conclude (p. 356): "With an overall mean value between 0.8 and 0.9, there is a high correlation between the h index and the h index variants".
The average effect size of low frequency index variants was 1.36 (range 0.80 2.39) standard deviations and the average effect size of common index variants was 0.61 (range 0.32 1.73) standard deviations (Supplementary Material, Tables S10 and S11).
The ELMO1 locus and SCHIP1/IL12A locus were excluded because the index variants for these loci, or their proxies failed the 10% MAF filter.
There is increasing evidence that multiple association signals, derived from independent index variants or through haplotype effects, are relatively widespread at T2D susceptibility loci.
We evaluated the cumulative risk effect of 17 index variants in a well-characterized sample of African American T2D case subjects and nondiabetic control subjects.
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Each clump is represented by an index variant (that with the lowest P-value in the clump), and contains all SNPs with P-value < 0.01 in linkage disequilibrium with it (R2 > 0.5, within 250 kb of the index SNP).
The inverse variance weighted method was implemented in METAL (http://www.sph.umich.edu/csg/abecasis/metal/) to determine the overall association of each index variant with T2D.
These variants were limited to those either within the 2 Mb cis region of the specific expression trait or within 1 Mb of the index variant representing a circulating biomarker association.
Next we identified proxy SNPs to these candidates that had r >0.8, and located within 500 kb of the index variant, using the SNAP Proxy Search tool (http://www.broadinstitute.org/mpg/snap/ldsearch.php) [ 33].
Ignoring statistical thresholds, 85% of all cis-eQTL and biomarker associations identified through sequence-based analysis were less strongly associated in the 1000 Genomes imputed dataset or had no proxy within 250 Kb of the index variant (Supplementary Material, Tables S15 and 16).
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