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Table 2 Gene-based test association results (for genes with variants classified as damaging)

From: Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Gene

NSNPs

cMAF

beta(se)T1-Burden

PT1-Burden

PSKAT

Protein function

Cardiac-specific involvement

ADAMTS6

12

0.0097

− 0.72 (0.23)

1.48 × 10−3

8.18 × 10−8

Zinc-dependent protease

–

CSRP3

3

0.0048

1.38 (0.31)

9.65 × 10−6

9.10 × 10−6

Regulator of myogenesis

Myocyte cytoarchitecture maintenance

FHOD3

17

0.0171

0.00 (0.17)

9.86 × 10−1

1.82 × 10−5

Actin filament assembly

Myofibril development and repair

ISM1

5

0.0037

1.47 (0.36)

5.05 × 10−5

5.88 × 10−5

Angiogenesis inhibitor

–

TBX5

8

0.0171

− 0.32 (0.17)

5.21 × 10−2

7.80 × 10−5

T-box transcription factor

Cardiac development and cell cycle control

  1. Displayed are the top five genes that have the lowest P values in the SKAT test (for genes with damaging variants)
  2. Gene gene in which variants were collapsed, NSNPs number of variants used in the collapsed variant test, cMAF cumulative minor allele frequency of variants in the test, beta(se)T1burden effect size (standard error) in ms, PT1-Burden P value of T1-burden test, PSKAT P value of SKAT test, Protein function function of the protein encoded by respective gene, Cardiac-specific involvement, literature support for physiological involvement of the protein in the heart
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Genome Biology

ISSN: 1474-760X

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