Table 1.
Phenotypic effects of single-nucleotide polymorphisms (SNPs) found in the human SLC23A1 gene
| Reference SNP ID | Location | Genetic varianta | References | Alterations in phenotypeb |
|---|---|---|---|---|
| rs10063949 | 5′ UTR | c.-97–487 A>G | (27, 28, 85, 94, 97) | Increased plasma and serum ascorbate levels in the BWHHS cohort but not in the EPIC cohort |
| rs6886922 | Exon 3 | c.180 C>T | (17) | Modeled in Xenopus oocytes: 40%–50% reduction in ascorbate transport |
| rs34521685 | Exon 7 | c.652 A>G | (17) | Isoleucine-to-valine substitution at position 218 of SVCT1. Modeled in Xenopus oocytes: 40%–50% reduction in ascorbate transport |
| rs35817838 | Exon 8 | c.772 A>G | (17, 27) | Methionine-to-valine substitution at position 258 of SVCT1. Modeled in Xenopus oocytes: 75% reduction in ascorbate transport |
| rs33972313 | Exon 8 | c.790 G>A | (17, 27, 85) | Valine-to-methionine substitution at position 264 of SVCT1. Modeled in Xenopus oocytes: 40%–50% reduction in ascorbate transport. Strongly associated with decreased plasma and serum ascorbate levels in multiple cohorts |
| rs11950646 | Intron 9 | c.1074–101 A>G | (82, 94) | Increased risk of follicular lymphoma observed in a U.S. cohort |
| rs4257763 | Intron 10 | c.1179+109 T>C | (9, 85) | Decreased serum ascorbate levels in the BWHHS cohort |
| rs34063983 | Intron 11 | c.1310–41 A>G | (27) | None |
| rs6876106 | Intron 13 | c.1550–2088 C>T | (94) | None |
| rs6596473 | Intron 13 | c.1549+2515 G>C | (9, 27, 82, 85, 94) | Trend toward decreased plasma ascorbate levels in two studies. Increased risk of follicular lymphoma in a U.S. cohort |
| rs6596471 | Intron 14 | c.*19+2088 T>C | (85) | None |
a
Variations listed relative to the coding region in the reference sequence NM_005847.4.
b
Effects of genetic polymorphism as described in the references provided.
Abbreviations: BWHHS, British Women’s Heart and Health Study; EPIC, European Prospective Investigation into Cancer and Nutrition; SVCT, sodium-dependent vitamin C transport protein