Table 3.
Genome-wide association loci near human ABC genes
| Symbol | Location | GWAS Phenotype | p-Value | SNP | Allele freq. | OR/effect | Notes | Reference |
|---|---|---|---|---|---|---|---|---|
| ABCA1 | 09q31.1 | HDL-C | 3E-27 | rs1883025 | 0.25 | 2.2mg/dL decrease | Multiple studies | |
| Glaucoma | 2E-19 | rs2472493 | 0.44 | 1.31 | Multiple studies | |||
| ABCA4 | 01p21.3 | Oral Facial Clefts | 3E10–12 | rs560426 | NR | 1.4 | ||
| ABCA7 | 19p13.3 | Alzheimer’s Disease | 2E-09 | rs115550680 | 0.07 | 1.79 | Multiple SNPs and studies | |
| ABCA8 | 17q24.3 | HDL-C | 2E-12 | rs4148008 | 0.33 | 0.028 U decrease | Two studies | |
| ABCB1 | 07q21.12 | Antisocial behavior | 6E-17 | rs4728702 | http://europepmc.org/abstract/MED/25918995 | |||
| ABCB5 | 07p21.1 | Prostate cancer | 5E-13 | rs12155172 | 0.23 | 1.11 | http://europepmc.org/articles/PMC3832790 | |
| ABCC1 | 16p13.12 | Carnitine levels | 1E-25 | rs2062541 | 0.61 | 0.02 U decrease | http://europepmc.org/articles/PMC4064254#SD2 | |
| ABCC4 | 13q32.1 | N-acetylcarnosine levels | 8E-23 | rs8002180 | 0.72 | 0.024 U decrease | http://europepmc.org/articles/PMC4064254#SD2 | |
| Irinotecan response | 2E-07 | rs16950650 | NR | 30 | http://europepmc.org/abstract/MED/23478653 | |||
| ABCC5 | 03q27.1 | Primary angle closure glaucoma | 7E-09 | rs1401999 | 0.41 | 1.13 | Also with orbit depth of the eye | http://europepmc.org/articles/PMC3945113 |
| ABCC9 | 12p12.1 | Hippocampal sclerosis of aging | 1E-09 | rs704178 | 0.49 | 2.13 | http://europepmc.org/articles/PMC4113197 | |
| ABCC11 | 16q12.1 | Fasting plasma glucose | 2E-36 | rs13387347 | NR | 0.11 U increase | G6PC2 gene at this locus | http://europepmc.org/articles/PMC4274808 |
| ABCF1 | 06p21.1 | Bone mineral density | 7E-09 | rs7812088 | 0.13 | Beta 0.04 | Both femoral neck and lumbar spine | http://europepmc.org/articles/PMC3338864 |
| ABCF2 | 07q36.1 | N-Glycosylation of IgG | 2E-10 | rs1122979 | 0.88 | 0.31 U decrease | SMARCD3 gene at the locus | http://europepmc.org/articles/PMC3561084 |
| ABCG2 | 04q22 | Gout, urate levels | 1E-75 | rs2199936 | 0.11 | 18umol/L increase | http://europepmc.org/abstract/MED/24513273 | |
| Statin induces LDL change | 2E-15 | rs1481012 | 0.1 | 5.1% decrease | http://circgenetics.ahajournals.org/content/5/2/257.full | |||
| ABCG5 | 02p21 | Gallstone disease | 1E-14 | rs11887534 | 0.1 | 2.2 | http://www.nature.com/ng/journal/v39/n8/full/ng2101.html | |
| LDL-cholesterol | 4E-72 | rs4299376 | 0.31 | 0.081 unit increase | Several studies, also total cholesterol | http://europepmc.org/abstract/MED/24097068 | ||
| ABCG8 | 02p21 | Gallstone disease | http://www.nature.com/ng/journal/v39/n8/full/ng2101.html | |||||
| LDL-cholesterol | Several studies, also total cholesterol |
GWAS loci with an association above the genome-wide threshold of 5 × 10–8 are shown from the GWAS Catalog, https://www.ebi.ac.uk/gwas. Phenotypes in bold are confirmed from functional studies or consistent with known gene function. NR, not reported