Table 2.

Association of a burden of rare mutations in the low-density lipoprotein receptor (LDLR) gene with risk for early-onset myocardial infarction

Mutation set	N cases/controls	T1 cases	T1 controls	% freq cases	% freq controls	OR	P
Non-synonymous	4,703/5,090	285	208	6.1	4.1	1.5	4 × 10−6
Deleterious (PolyPhen)	4,703/5,090	148	67	3.1	1.3	2.4	1 × 10−11
Deleterious (Broad)	4,703/5,090	243	158	5.2	3.1	1.7	9 × 10−8
Deleterious (Strict)	4,703/5,090	90	23	1.9	0.45	4.2	3 × 10−11
Disruptive	4,703/5,090	24	2	0.51	0.039	13.0	9 × 10−5

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.