Table 1.

Association of a burden of rare mutations in the apolipoprotein A–V (APOA5) gene with risk for early-onset myocardial infarction or coronary artery disease

Mutation set	N cases/controls	T1 cases	T1 controls	% freq cases	% freq controls	OR	P
Non-synonymous	6,721/6,711	93	42	1.4	0.63	2.2	5 × 10−7
Deleterious (PolyPhen)	6,721/6,711	63	31	0.94	0.46	2.0	6 × 10−5
Deleterious (Broad)	6,721/6,711	68	31	1.0	0.46	2.2	2 × 10−5
Deleterious (Strict)	6,721/6,711	10	3	0.15	0.045	3.3	0.008
Disruptive	6,721/6,711	9	2	0.13	0.03	4.5	0.007

Summary allele counts and carrier frequencies are shown. Only SNVs and indels with minor allele frequency less than 1% were considered in burden analysis. “Deleterious (PolyPhen)” as defined by nonsense, splice-site, indel frameshift, and missense annotated as “possibly damaging” or “probably damaging” by PolyPhen-2 HumDiv software; “Deleterious (Broad)” as defined by nonsense, splice-site, indel frameshift, and missense annotated as deleterious by at least one of the five protein prediction algorithms of LRT score, MutationTaster, PolyPhen-2 HumDiv, PolyPhen-2 HumVar and SIFT; “Deleterious (Strict)” as defined by nonsense, splice-site, indel frameshift, and missense annotated as deleterious by all five protein prediction algorithms; Disruptive defined as nonsense, splice-site or indel frameshift; T1: Alleles with SNVs or indels with minor allele frequency less than 1%; % freq: percentage of cases or controls carrying a T1 allele; OR: odds ratio.