Summary of genes and their variants which show an excess of novel functional variants in FH cases (n=71) in comparison with controls (n=1926)
| Gene | Ch | Number of variants in cases (n=71) | Number of variants in controls (n=1926) | p Value | ||
|---|---|---|---|---|---|---|
| CH25H | 10 | 3 | 2 | 4.3×10−4 | ||
| Cases | ENST00000371852:exon1:c.G568A:p.V190I; exon1:c.A716C:p.H239P; exon1:c.C244T:p.Q82X | |||||
| Controls | ENST00000371852:exon1:c.T742G:p.C248G; exon1:c.C590A:p.P197Q | |||||
| HSPB7 | 1 | 2 | 0 | 1.3×10−3 | ||
| Cases | 2X ENST00000311890:exon2:c.199+7G>A | |||||
| Controls | None | |||||
| KLRC1 | 12 | 2 | 0 | 1.3×10−3 | ||
| Cases | ENST00000544822:exon5:c.G333C:p.Q111H; exon3:c.C178T:p.H60Y | |||||
| Controls | None | |||||
| MOAP1 | 14 | 3 | 4 | 1.4×10−3 | ||
| Cases | ENST00000556883:exon2:c.C707T:p.A236V; exon2:c.G476C:p.C159S; exon2:c.A182G:p.N61S | |||||
| Controls | ENST00000556883:exon2:c.C655G:p.R219G; exon2:c.C627A:p.S209R; exon2:c.C264G:p.I88M; exon2:c.A919G:p.I307V | |||||
| RBM25 | 14 | 3 | 4 | 1.4×10−3 | ||
| Cases | ENST00000261973:exon6:c.A454T:p.I152F; exon2:c.T50C:p.L17P; exon11:c.C1364A:p.A455D | |||||
| Controls | ENST00000261973:exon7:c.C671T:p.A224V; exon11:c.A1273G:p.R425G; exon18:c.G2392A:p.V798I; exon2:c.T7C:p.F3L | |||||
| ANP32E | 1 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000436748:exon3:c.G227C:p.S76T; ENST00000533654:exon4:c.A434G:p.K145R | |||||
| Controls | ENST00000436748:exon6:c.G629T:p.R210L | |||||
| CABP5 | 19 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000293255:exon4:c.C281A:p.T94N; exon3:c.G201A:p.M67I | |||||
| Controls | ENST00000293255:exon3:c.A169C:p.M57L | |||||
| CELA2B | 1 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000375910:exon6:c.G576A:p.W192X; ENST00000422901:exon3:c.G271A:p.G91R | |||||
| Controls | ENST00000375910:exon7:c.T739C:p.Y247H | |||||
| INSIG2 | 2 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000245787:exon2:c.T89C:p.I30T; exon2:c.C236T:p.T79M | |||||
| Controls | ENST00000245787:exon4:c.G376A:p.D126N | |||||
| KCTD7 | 7 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000275532:exon4:c.G814A:p.V272M; exon4:c.C758T:p.S253L | |||||
| Controls | ENST00000275532:exon4:c.G506A:p.R169Q | |||||
| MRO | 18 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000436348:exon5:c.G578A:p.R193Q; exon5:c.G565A:p.V189I | |||||
| Controls | ENST00000436348:exon3:c.A223G:p.S75G | |||||
| NR2E1 | 6 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000368983:exon1:c.G136A:p.G46S; exon5:c.A634G:p.M212V | |||||
| Controls | ENST00000368983:exon7:c.G1000A:p.V334I | |||||
| PABPC1 | 8 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000318607:exon9:c.A1250C:p.Q417P;exon10:c.G1364A:p.R455H | |||||
| Controls | ENST00000523555:exon3:c.226+3A>G | |||||
| PODXL | 7 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000537928:exon3:c.G821A:p.R274K; exon5:c.A992G:p.H331R | |||||
| Controls | ENST00000537928:exon8:c.C1246G:p.Q416E | |||||
| PUS3 | 11 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000530811:exon1:c.T74C:p.V25A; exon2:c.T824C:p.L275P | |||||
| Controls | ENST00000530811:exon4:c.945-8T>C | |||||
| TXNDC15 | 5 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000511070:exon2:c.C130T:p.R44W; ENST00000507024:exon2:c.G91A:p.A31T | |||||
| Controls | ENST00000358387:exon2:c.G534C:p.E178D | |||||
| WDR89 | 14 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000394942:exon2:c.T821C:p.L274S; exon2:c.A553G:p.M185V | |||||
| Controls | ENST00000394942:exon2:c.A860G:p.D287G | |||||
| ZNF720 | 16 | 2 | 1 | 3.7×10−3 | ||
| Cases | ENST00000398696:exon2:c.T508G:p.L170V; exon2:c.A29G:p.H10R | |||||
| Controls | ENST00000399681:exon6:c.A893G:p.H298R | |||||
Ch, chromosome; FH, familial hypercholesterolaemia.