Table 1 Case–control studies of genome-wide rare CNV burden in CHDa

From: The importance of copy number variation in congenital heart disease

Study

Cases (n)

CHD type

Controls (n)

Significant case–control CNV burden findings

22q11.2 deletions excluded or absent

Zhao et al.43

100

Variousb

65

Increased proportion of subjects with rare CNVs >100 kb in size (39.0 vs 21.5%)

Yesc

Costain et al.53

101d

TGA

415e

Increased proportion of subjects with rare CNVs >500 kb in size (10.1 vs 4.6%)

Yes

Carey et al.58

223

Single ventricle

270

Increased proportion of subjects with rare genic CNVs >300 kb in size (13.9 vs 4.4%)

Yes

Fakhro et al.48

262

HTX

991

Increased proportion of subjects with rare genic CNVs (14.5 vs 7.4%)

Yes

Kim et al.54

422

Variousb

500

Increased proportion of subjects with rare genic CNVs >300 kb in size (12.1 vs 5.0%)

Yes

Silversides et al.38

433d

TOF

416e

Increased proportion of subjects with rare CNVs >500 kb in size (9.1 vs 5.1%)f

Yes

Soemedi et al.39

2,256

Variousb

841

Increased proportion of subjects with rare genic loss CNVs (7.8 vs 4.4%)

Yes

  1. Abbreviations: ASD, atrial septal defect; CHD, congenital heart disease; CNVs, copy number variations; HLHS, hypoplastic left heart syndrome; HTX, heterotaxy; PDA, patent ductus arteriosus; TGA, transposition of the great arteries; TOF, tetralogy of Fallot; VSD, ventricular septal defect.
  2. a Minimum n=100 case subjects. Glessner et al.57 reported an increased burden of de novo CNVs in CHD cases relative to controls, but multiple numerical inconsistencies in their report resulted in its exclusion from this table.
  3. b Zhao et al.43: ASD (n=58), VSD (n=22), PDA (n=15), TOF (n=2), Ebstein anomaly (n=2), and tricuspid incompetence (n=1); Kim et al.54: HLHS (n=130), TOF (n=64), TGA (n=34), VSD (n=40), VSD/coA (n=19), single ventricle (n=30) and other (n=105); Soemedi et al.39: the four largest of the 29 categories were TOF (n=808), ASD (n=293), TGA (n=165) and VSD (n=163).
  4. c Included one atypical 22q11.2 deletion overlapping CRKL.
  5. d Only subjects of European ancestry were considered in burden analyses.
  6. e All rare CNVs in cases and controls were adjudicated for rarity by comparing to those in additional population-based controls: n=2357,38 n=10 113.53
  7. f Also within-TOF finding of more exonic losses in the syndromic subgroup.
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