Table 2.

Overview of high-throughput sequencing studies for AF, divided in family- and population-based studies.

	Year	Cases (n)	Referents (n)	Study design	Genetic loci	Biological implication	Authors	References
Family-based studies	2014	18 (six families)	0	Whole exome	39 very rare potentially pathogenic variants	Unknown	Weeke et al.	(53)
	2014	20 trios + AF: 200	200	Targeted exome sequencing of AF-related genes + Sanger	PITX2 SYNE2 ZFHX3 KCNN3	Cardiac development Cardiac contractility/structural Cardiac development Cardiac electrical function/ion channel subunits	Tsai et al.	(54)
	2016	AF: 5 family members Healthy relative: 2	100	Whole exome	MYL4	Cardiac contractility/structural	Orr et al.	(55)
	2016	AF: 3 family members Healthy relatives: 1	524	Whole exome + Sanger	LMNA	Cardiac contractility/structural	Zhao et al.	(56)
	2017	AF: 4 family members Healthy relatives: 4		Gene panel testing+ Sanger	SCN5A	Cardiac electrical function/ion channel subunits	Lieve et al.	(57)
	2017	AF: 3 family members + AF early-onset: 546	6,500	Whole exome	GATA6	Cardiac development	Tucker et al.	(58)
	2018	AF: 77 + AF early-onset: 399	663	Whole exome	TTN	Cardiac contractility/ structural	Ahlberg et al.	(59)
Population-based studies	2015	WGS: 2,636 Homozygous carriers of MYL4 c.234delC variant: 8		Whole genome	MYL4	Cardiac contractility/ structural	Gudbjartsson et al.	(60)
	2016	AF: 1,743	9,423	Whole- exome	No significant associations		Lubitz et al.	(61)
	2018	AF: 2,781	4,959	Whole genome	TTN	Cardiac contractility/ structural	Choi et al.	(62)