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The findings for the urine-specific mQTL suggest that urine is the appropriate matrix to detect the effect of a minor allele at a regulatory variant that increases expression of SLC10A2 in the kidney cortex, leading to lower urine levels of the ASBT substrate glycocholate through reabsorption, which translates into lower risk of gallstone disease. GoF, gain of function with respect to ASBT-mediated transport.

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