Table 1. Genome-wide significant polymorphisms on chromosome 19 associated with familial hypercholesterolemia.
Polymorphism | Position | Allele | The Rotterdam study MAF | ARGOSMAF | OR | P-value |
---|---|---|---|---|---|---|
rs7259203 | 8 672 833a | A | 0.16 | 0.24 | 1.71 | 4.32 × 10−11 |
rs2033483 | 9 115 342a | G | 0.11 | 0.18 | 1.76 | 6.51 × 10−10 |
rs10422772 | 9 584 423a | A | 0.14 | 0.08 | 0.49 | 1.41 × 10−8 |
rs10405652 | 9 602 123a | A | 0.14 | 0.08 | 0.49 | 2.03 × 10−8 |
rs10411082 | 9 602 216a | A | 0.21 | 0.13 | 0.58 | 4.51 × 10−8 |
rs10418705 | 9 629 925a | G | 0.20 | 0.13 | 0.57 | 3.16 × 10−8 |
rs10417523 | 9 681 194a | C | 0.14 | 0.07 | 0.48 | 1.87 × 10−8 |
rs10415132 | 9 724 483a | A | 0.21 | 0.13 | 0.57 | 2.08 × 10−8 |
rs7247038 | 9 739 695a | G | 0.21 | 0.13 | 0.58 | 4.16 × 10−8 |
rs2431820 | 9 996 284a | G | 0.06 | 0.11 | 2.09 | 1.05 × 10−10 |
rs10417403 | 10 033 516a | G | 0.26 | 0.34 | 1.50 | 3.33 × 10−8 |
rs3745264 | 10 290 566 | A | 0.15 | 0.25 | 1.97 | 6.00 × 10−17 |
rs7507634 | 10 297 562 | A | 0.11 | 0.22 | 2.24 | 1.36 × 10−20 |
rs2304240 | 10 310 392 | A | 0.16 | 0.33 | 2.63 | 2.21 × 10−35 |
rs280519 | 10 333 933 | G | 0.50 | 0.40 | 0.67 | 1.78 × 10−8 |
rs8112449 | 10 381 064 | A | 0.30 | 0.22 | 0.63 | 3.63 × 10−8 |
rs7256672 | 10 440 474 | C | 0.36 | 0.45 | 1.49 | 1.14 × 10−8 |
rs1529711 | 10 884 434 | A | 0.16 | 0.25 | 1.73 | 8.58 × 10−12 |
rs4804149 | 11 145 028 | G | 0.29 | 0.40 | 1.64 | 1.83 × 10−12 |
rs387865 | 11 145 539 | A | 0.29 | 0.39 | 1.57 | 1.61 × 10−10 |
rs8111456 | 11 162 147 | G | 0.34 | 0.44 | 1.54 | 3.30 × 10−10 |
rs313624 | 11 413 910 | A | 0.48 | 0.43 | 1.48 | 2.18 × 10−8 |
rs4804636 | 11 703 323 | A | 0.34 | 0.45 | 1.58 | 3.15 × 10−11 |
rs286262 | 11 708 615 | A | 0.37 | 0.48 | 1.55 | 2.43 × 10−10 |
rs11880217 | 12 279 795a | A | 0.16 | 0.24 | 1.66 | 4.89 × 10−10 |
rs12610507 | 12 297 410a | C | 0.17 | 0.25 | 1.62 | 1.70 × 10−9 |
rs2967890 | 12 901 647a | G | 0.23 | 0.31 | 1.55 | 2.91 × 10−9 |
rs16042 | 13 202 037a | A | 0.11 | 0.17 | 1.76 | 7.05 × 10−10 |
Abbreviations: LDL, low-density lipoprotein; MAF, minor allele frequency; OR, odds ratio.
Located 1-2 Mb from the LDLR gene (located 11 061 132–11 105 490 according to HapMap). The other polymorphisms are located<1 Mb from the LDLR gene.