Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits

Table 1 Selection of novel genes involved in regulating cholesterol or triglyceride levels for in vitro functional studies

Gene	Description	Trait	p-value (BioMe)	β (BioMe)	p-value (STARNET)	β (STARNET)	Tissue (STARNET)
CYP2C19	Cytochrome P450 Family 2 Subfamily C Member 19	TC	0.089	−32	0.033	0.10	LIV
PCK2	Phosphoenolpyruvate Carboxykinase 2, Mitochondrial	TC	0.10	−23	0.00053	0.55	LIV
RNMTL1	RNA methyltransferase-like protein 1	TC	0.054	−36	0.016	0.60	LIV
SCRN2	Secernin 2	TC	0.089	−26	0.0026	0.39	LIV
UGT1A4	UDP Glucuronosyltransferase Family 1A4	TC	0.069	−13	2.1E-05	0.70	LIV
ABHD14B	Abhydrolase Domain Containing 14B	TG	0.027	−11	0.026	0.47	LIV
APOC3	Apolipoprotein C3	TG	0.0056	−56	0.0065	0.38	LIV
CES3	Carboxylesterase 3	TG	0.061	−40	0.00011	0.42	LIV
NMRAL1	NmrA-Like Family Domain Containing 1	TG	0.080	−28	0.045	0.28	LIV
SLC39A5	Solute Carrier Family 39 Member 5	TG	0.092	−70	0.0036	0.43	LIV

Negative β in BioMe and positive β in STARNET indicate LoF and low gene expression are associated with decreased trait measurements
LIV liver, TC total cholesterol, TG triglycerides

ISSN: 1755-8794