Table 1.
Summary of SNPs associated with fasting blood vitamin A concentration or vitamin A bioavailability.
| SNP/Mutation | Global MAF 1 | Nearest Gene | Trait | Reference | Study Type |
|---|---|---|---|---|---|
| (Ile59Asn) (rs121918584) | - | RBP4 | FB-RET | [101,102] | CS |
| Gly75Asp (rs1218585) | 0.115 | RBP4 | FB-RET | [101,102] | CS |
| c.248 + 1G>A | - | RBP4 | FB-RET | [116] | CS |
| rs10882272 | 0.390 | RBP4 | FB-RET | [103] | GWAS |
| rs1667255 | 0.500 | TTR | FB-RET | [103] | GWAS |
| rs738409 | 0.2622 | PNPLA3 | FB-RET | [105] | CGAS |
| rs6564851 | 0.476 | BCO1 | FB-βC | [104,106,107,114,117] | GWAS and CGAS |
| rs12926540 | 0.493 | BCO1 | FB-βC | [117] | GWAS |
| rs7501331 | 0.213 | BCO1 | FB-βC | [104,115] | CGAS |
| rs12934922 | 0.357 | BCO1 | FB-βC | [104,115] | CGAS |
| rs1800588 | 0.292 | HL | FB-βC | [109] | CGAS |
| S447X | - | LPL | FB-βC | [108] | CGAS |
| SR-BI intron 5 | - | SCARB1 | FB-βC | [110] | CGAS |
| rs61932577 | 0.033 | SCARB1 | FB-βC/αC | [28] | CGAS |
| rs1984112 | 0.347 | CD36 | FB-βCryt/αC | [28] | CGAS |
| rs1761667 | 0.390 | CD36 | FB-βCryt/αC | [28] | CGAS |
| rs7755 | 0.388 | CD36 | FB-βCryt/αC | [28] | CGAS |
| rs10991408 * | 0.116 | ABCA1 | βC-B 2 | [113] | CGAS |
| rs2791952 * | 0.140 | ABCA1 | βC-B | [113] | CGAS |
| rs3887137 * | 0.123 | ABCA1 | βC-B | [113] | CGAS |
| rs2278357 | 0.247 | ABCG5 | βC-B | [113] | CGAS |
| rs1042031 * | 0.153 | APOB | βC-B | [113] | CGAS |
| rs35364714 * | 0.115 | APOB | βC-B | [113] | CGAS |
| rs4643493 * | 0.082 | APOB | βC-B | [113] | CGAS |
| rs7196470 | 0.278 | BCO1 | βC-B | [113] | CGAS |
| rs1247620 | 0.137 | CXCL8 | βC-B | [113] | CGAS |
| rs1358594 | 0.291 | CXCL8 | βC-B | [113] | CGAS |
| rs6834586 | 0.221 | CXCL8 | βC-B | [113] | CGAS |
| rs3798709 | 0.252 | ELOVL2 | βC-B | [113] | CGAS |
| rs911196 | 0.252 | ELOVL2 | βC-B | [113] | CGAS |
| rs9468304 | 0.302 | ELOVL2 | βC-B | [113] | CGAS |
| rs16994824 | 0.206 | ISX | βC-B | [113] | CGAS |
| rs202313 | 0.113 | ISX | βC-B | [113] | CGAS |
| rs5755368 | 0.250 | ISX | βC-B | [113] | CGAS |
| rs11857380 * | 0.157 | LIPC | βC-B | [113] | CGAS |
| rs12185072 * | 0.198 | LIPC | βC-B | [113] | CGAS |
| rs1869138 * | 0.117 | LIPC | βC-B | [113] | CGAS |
| rs8043708 | 0.237 | PKD1L2 | βC-B | [113] | CGAS |
| rs12139131 | 0.096 | RPE65 | βC-B | [113] | CGAS |
| rs4926340 | 0.093 | RPE65 | βC-B | [113] | CGAS |
| rs2501175 | 0.327 | SOD2 | βC-B | [113] | CGAS |
| rs946199 * | 0.192 | TCF7L2 | βC-B | [113] | CGAS |
1 Abbreviations: CS: case subject(s) with very low vitamin A status; CGAS: candidate gene association study; GWAS: genome-wide association study; MAF: minor allele frequency, retrieved from the SNP database in PubMed (https://www.ncbi.nlm.nih.gov/pubmed?cmd=search); the gene official symbols are those found in PubMed and approved by the Hugo Gene Nomenclature Committee (available online: http://www.genenames.org/). FB-βC: fasting blood β-carotene concentration; FB-βCrypt/αC: fasting blood β-cryptoxanthin or α-carotene; FB-RET: fasting blood retinol concentration; βC-B: β-carotene bioavailability. 2 In this study, β-carotene bioavailability was estimated by measuring the postprandial chylomicron β-carotene response (0–8 h area under the curve) to a β-carotene containing test-meal. * These SNPs were associated with the variability of β-carotene bioavailability, but this association was likely due to their involvement in the postprandial metabolism of chylomicrons [91,113], which are the lipoparticles that carry newly-absorbed β-carotene from the intestine to the liver.