Figure 4: Association analysis for missense variants in Col6a5.
From: Joint mouse–human phenome-wide association to test gene function and disease risk
(a) Twenty missense variants in Col6a5 distributed across 10 von Willebrand factor A-type (vWFA) domains. (b) Differential mRNA expression of Col6a5 in tibias (n=4) measured by rtPCR. The D haplotype (blue, right) has far higher expression than the B haplotype (green) relative to Gapdh. (c) Phenome scan of Col6a5 (rs13480398) across mRNA assays for femur. (d) Phenome scan of Col6a5 (rs13480398) across classic phenotypes. (e) Marked difference in bone density between B6 and D2 parents. Femurs from 12-week-old mice were scanned using high-resolution micro-CT (μCT40, SCANCO Medical, Bassersdorf, Switzerland). More highly mineralized areas are indicated in red. (f) Difference in material bone density (P=0.02; two-tailed Student’s t-test, n=3). (g) Human phenome scan for association of Col6a5 (rs113396273) across BioVU.
