Missense Variant associated with lower LDL and Fibrinogen in Old Order Amish

Just out in Science. Missense variant in B4GALT1 associated with ~14mg/dL lower LDL and 30 mg/dL fibrinogen present in 6% of Lancaster Old Order Amish, extremely rare elsewhere. Decreased risk of CAD in meta analysis of large populations with electronic health records. Really beautiful mouse model that validates B4GALT1 activity and quantitative trait associations observed in humans.

https://www.science.org/doi/10.1126/science.abe0348


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