Article

Genetic and functional evidence relates a missense variant in <i>B4GALT1</i> to lower LDL-C and fibrinogen

2019-08-01

Abstract excerpt

Increased LDL-cholesterol (LDL-C) and fibrinogen are independent risk factors for cardiovascular disease (CVD). We identified novel associations between an Amish-enriched missense variant (p.Asn352Ser) in a functional domain of beta-1,4-galactosyltransferase 1 ( B4GALT1 ) and 13.5 mg/dl lower LDL-C (p=1.6E-15), and 26 mg/dl lower plasma fibrinogen (p= 9.8E-05). N-linked glycan profiling found p.Asn352Ser to be as...

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Literature Corpus work: 9a92546e-9a3f-595c-ae10-6d663737eb72
DOI: 10.1101/721704

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