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Chunk #25 — Results — SMR tests

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Integration of summary data from GWAS and eQTL studies identified novel causal BMD genes with functional predictions.
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In the cis-eQTL region of ASB16-AS1 probe, there were 73 SNPs with a PeQTL < 5 × 10−8. After pruning for SNPs with LD r2 > 0.8, a total of 16 SNPs in the cis-eQTL region of ASB16-AS1 probe were included to detect whether the expression of ASB16-AS1 had a causal effect on BMD. The estimated effect size of the expression of ASB16-AS1 on BMD (bXY) was −0.14 (95% CI: −0.18, −0.10). The p value from Cochran’s Q statistic of heterogeneity in causal estimates for each genetic variant calculated individually was 0.45, suggesting that no heterogeneity existed. There were 160 eQTLs with a p value < 5 × 10−8, in the cis-eQTL region of SYN2 probe. After pruning, 15 SNPs were included to give the causal estimate with a p value from Cochran’s Q statistic 0.16. The estimated effect size of the expression of SYN2 on BMD (bXY) was −0.20 (95% CI: −0.27, −0.13). Association results of ASB16-AS1 or SYN2 with BMD were displayed graphically in Fig. 2.