Worked Locus: A 1p13 Variant Creates a C/EBP Site and Regulates SORT1 in Liver

Enrichment; the gain-of-site counterpart to FTO's loss-of-site story.

Questions this Concept answers

Why does creating a new C/EBP binding site at this locus lead to a change in SORT1 expression in liver cells specifically?

jeremy Text

SORT1 1p13.3 locus (rs12740374)

The 1p13.3 locus is one of the strongest common-variant signals for LDL cholesterol and myocardial infarction, and it sits in a non-coding region flanked by several candidate genes. Fine-mapping narr…