Table 1.
Gene | Variant | MAF | SIFT/PolyPhen | Phenotype | N | P-value | Beta (se) | PRepl | P lipids |
---|---|---|---|---|---|---|---|---|---|
LIPC | 15:58563549 C>T p.Thr405Met rs113298164 | 0.017 | Deleterious, probably damaging | apoA1 | 918 | 7.8×10−8 | 0.98 (0.18) | 0.89 | apoA (UKBB): p=9.3×10−46 |
GTF3C5 | 9:133054787 C>T p.Ala382Val rs202207045 | 0.007b | Tolerated, benign | LDLC | 894 | 1.3×10−6 | −1.35 (0.28) | 0.02 | LDLC (Hindy): p=0.125 |
GTF3C5 | 9:133054787 C>T p.Ala382Val rs202207045 | 0.007b | Tolerated, benign | Non-HDLC | 919 | 7.3×10−7 | −1.38 (0.28) | 0.02 | Non-HDLC (Hindy) p=0.199 |
FNDC3A | 13:49201861 A>G p.Thr1017Ala rs45604939 | 0.064 | Deleterious, probably damaging | CHOLa | 748 | 8.8×10−6 | 0.46 (0.10) | 0.04 | CHOL (Hindy) p=0.35 |
PPIC | 5:123023945 T>C p.Asn190Ser rs451195 | 0.156 | Deletorious, benign | HDLFC L | 487 | 5.0×10−6 | 0.43 (0.09) | 0.87 | HDLC (GLGC) p=2.1×10−7 |
ZNF274 | 19:58206912 A>G p.Gln118Arg rs45580533 | 0.021 | Tolerated, benign | VLDL L | 487 | 9.3 ×10−6 | −1.02 (0.23) | 0.87 | LDL (GLGC) p=3.0×10−13 |
ZNF274 | 19:58206912 A>G p.Gln118Arg rs45580533 | 0.021 | Tolerated, benign | VLDLTG L | 748 | 5.5 ×10−6 | −10.5 (0.23) | 0.81 | TG (GLGC) p=0.003 |
Variant chromosome:base pair position with REF>ALT alleles, amino acid change, and rs identifier, MAF minor allele frequency, SIFT/Polyphen predicted effect, Beta (se) effect size beta and standard error, PReplP-value for replication in GWAS data, P lipids the lowest p-value within the GLGC GWAS, UKBB WES, and lipid WES (Hindy et al.) for the corresponding or closest matching lipid phenotype
ars45604939 association with total cholesterol was obtained for the NMR measured total cholesterol; replication with standard laboratory total cholesterol
brs202207045 MAF in Hindy et al. was markedly lower, 2.5×10−5