Table 3. Common variants with P < 0.05 in the discovery families and evidence for replication in NOMAS.
| Discovery Families | NOMAS | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Gene | SNP | BP | Effect Allele/Reference Allele | EAF | Direction of Effecta | P-valueb | MAF | Direction of Effecta | P-valueb | Function |
| PKP2 | rs1046116 | 33,021,934 | G/A | 0.15 | − | 9.04 × 10−4 | 0.20 | − | 0.03 | Missense |
| ERGIC2 | rs1035607 | 29,509,513 | C/A | 0.39 | + | 4.72 × 10−3 | 0.42 | + | 0.05 | Intronic |
| OR10AD1 | rs11168459 | 48,596,241 | G/A | 0.26 | + | 0.01 | 0.24 | + | 0.02 | Missense |
| SLC38A4 | rs2191162 | 47,197,648 | A/G | 0.27 | + | 0.01 | 0.34 | + | 0.03 | Intronic |
| VDR | rs731236 | 48,238,757 | G/A | 0.29 | + | 0.02 | 0.34 | + | 0.03 | Synonymous |
| ANO6 | rs74081827 | 45,833,755 | A/G | 0.08 | + | 0.03 | 0.09 | + | 1.99 × 10−3 | 3′ UTR |
| TSPAN11 | rs35989439 | 31,145,916 | T/A | 0.21 | + | 0.03 | 0.13 | + | 0.01 | 3′ UTR |
| CPNE8 | rs11168985 | 39,045,983 | A/C | 0.25 | − | 0.04 | 0.22 | − | 0.01 | Downstream |
| RPAP3 | rs7311790 | 48,061,435 | A/G | 0.04 | + | 0.04 | 0.07 | + | 0.02 | Intronic |
a
+ indicates effect allele associated with increased LVM; − indicates effect allele associated with decreased LVM.
b
QTDT P-value for families, linear regression P-value for NOMAS. Bold typeface indicates p-value <0.05.