Evaluation of 82 single nucleotide polymorphisms in positional candidate genes
| Bases | Amino acid | Material | Result | Gene | |
|---|---|---|---|---|---|
| cSNP, single nucleotide polymorphism in coding region; Not typed, no assay could be established; Not detected, no carriers of the polymorphism were detected. T1D, type 1 diabetes. In five of the 32 positional candidate genes no cSNPs existed in dbSNP; these are CLDN17, IFNAR2, SYNJ1, CRYZL1, and OLIG1. | |||||
| rs686364 | T/C | Ser/Pro | 253 families tested | No association | CLDN8 (21q22.11) |
| rs685967 | A/G | Thr/Ala | 253 families tested | No association | CLDN8 (21q22.11) |
| rs1557294 | A/G | Thr/Ala | 96 T1D screened | Not detected | CLDN8 (21q22.11) |
| rs762194 | T/C | Gly/Gly | 253 families tested | No association | TIAM1 (21q22.1) |
| rs2070417 | G/T | Gly/Val | 253 families tested | No association | TIAM1 (21q22.1) |
| rs2070418 | G/A | Gly/Arg | 253 families tested | No association | TIAM1 (21q22.1) |
| rs1804450 | C/T | Thr/Ile | 96 T1D screened | Not detected | SOD1 (21q22.1) |
| rs1804449 | C/T | Asn/Asn | 96 T1D screened | Not detected | SOD1 (21q22.1) |
| rs1804447 | G/A | 3′UTR | 96 T1D screened | Not detected | SOD1 (21q22.1) |
| rs15012 | A/G | 3′UTR | 96 T1D screened | Not detected | SOD1 (21q22.1) |
| rs1804448 | A/C | 3′UTR | 96 T1D screened | Minor allele frequency <3% | SOD1 (21q22.1) |
| rs1050089 | A/C | 3′UTR | 96 T1D screened | Minor allele frequency <3% | SOD1 (21q22.1) |
| rs2070371 | T/C | Leu/Leu | 253 families tested | No association | HUNK (21q22) |
| rs6517105 | A/G | His/Arg | 253 families tested | No association | TCP10 (21q22.11) |
| rs2017816 | A/G | Lys/Lys | 253 families tested | No association | TCP10 (21q22.11) |
| rs762178 | A/G | Ser/Ser | 253 families tested | No association | OLIG2 (21q) |
| rs1058857 | C/T | Ser/Ser | 96 T1D screened | Not detected | IL10RB (21q22.1) |
| rs2834167 | A/G | Lys/Glu | 253 families tested | No association | IL10RB (21q22.1) |
| rs1058859 | C/A | Ala/Asp | 96 T1D screened | Minor allele frequency <3% | IL10RB (21q22.1) |
| rs1058861 | G/T | Ala/Ser | 96 T1D screened | Minor allele frequency <3% | IL10RB (21q22.1) |
| rs2257167 | G/C | Val/Leu | 253 families tested | No association | IFNAR1 (21q22.1) |
| rs4986958 | C/G | Thr/Arg | 96 T1D screened | Not detected | IFNGR2 (21q22.1–q22.2) |
| rs1064579 | T/G | Val/Gly | 96 T1D screened | Minor allele frequency<3% | IFNGR2 (21q22.1–q22.2) |
| rs1802585 | C/A | Asp/Glu | 96 T1D screened | Not detected | IFNGR2 (21q22.1–q22.2) |
| rs2898199 | A/T | Glu/Asp | 96 T1D screened | Not detected | GART (21q22.1) |
| rs8971 | A/G | Asp/Gly | 253 families tested | No association | GART (21q22.1) |
| rs1804387 | C/T | Leu/Phe | 96 T1D screened | Not detected | GART (21q22.1) |
| rs2409496 | G/C | Glu/Gln | Not typed | GART (21q22.1) | |
| rs7280001 | C/T | His/His | 96 T1D screened | Not detected | SON (21q22.1–22.2) |
| rs7276682 | A/C | Ser/Ser | 96 T1D screened | Minor allele frequency<3% | SON (21q22.1–22.2) |
| rs1131912 | C/T | Pro/Leu | 96 T1D screened | Not detected | SON (21q22.1–22.2) |
| rs1051810 | T/A | Asp/Glu | Not typed | SON (21q22.1–22.2) | |
| rs1051811 | T/A | Val/Glu | Not typed | SON (21q22.1–22.2) | |
| rs7276194 | T/C | Val/Val | 96 T1D screened | Not detected | ITSN1 (21q22.1–q22.2) |
| rs2284567 | C/T | Ala/Ala | 253 families tested | No association | ITSN1 (21q22.1–q22.2) |
| rs2073370 | T/C | Arg/Arg | 253 families tested | No association | ITSN1 (21q22.1–q22.2) |
| rs2834286 | C/T | His/His | Not typed | ITSN1 (21q22.1–q22.2) | |
| rs2834296 | A/G | Asn/Asn | 253 families tested | No association | ATP50 (21q22.1–q22.2) |
| rs8129891 | A/G | Thr/Ala | 96 T1D screened | Not detected | MRPS6 (21q21.3–q22.1) |
| rs4817617 | C/A | Gln/Lys | 96 T1D screened | Not detected | MRPS6 (21q21.3–q22.1) |
| rs2234916 | A/G | Thr/Ala | 96 T1D screened | Minor allele frequency<3% | KCNE2 (21q22.1) |
| rs1805128 | A/G | Asn/Asp | 96 T1D screened | Not detected | KCNE1(21q22.1–q22.2) |
| rs1805127 | A/G | Ser/Gly | 253 families tested | No association | KCNE1(21q22.1–q22.2) |
| rs4252580 | G/A | Pro/Pro | 253 families tested | No association | DSCR1 (21q22.1–q22.2) |
| rs7280973 | A/G | Gln/Gln | 96 T1D screened | Not detected | CLIC6 (21q22.12) |
| rs6517254 | C/T | Phe/Phe | 253 families tested | No association | CLIC6 (21q22.12) |
| rs3171439 | A/G | Asp/Gly | 96 T1D screened | Not detected | CLIC6 (21q22.12) |
| rs1055309 | A/C | Arg/Ser | 96 T1D screened | Not detected | RUNX1 (21q22.3) |
| rs1055308 | A/C | Arg/Ser | 96 T1D screened | Not detected | RUNX1 (21q22.3) |
| rs1055307 | C/G | Gly/Gly | 253 families tested | No association | RUNX1 (21q22.3) |
| rs1055306 | C/T | Gly/Gly | 253 families tested | No association | RUNX1 (21q22.3) |
| rs2268277 | C/G | Intron 6 | 253 families tested | No association | RUNX1 (21q22.3) |
| rs25678 | C/G | Leu/Leu | 253 families tested | No association | CBR1 (21q22.12) |
| rs1143663 | G/A | cDNA/UTR | 96 T1D screened | Not detected | CBR1 (21q22.12) |
| rs1051543 | G/T | Val/Val | 96 T1D screened | Minor allele frequency <3% | CBR1 (21q22.12) |
| rs2230191 | G/A | Thr/Thr | 96 T1D screened | Not detected | CBR1 (21q22.12) |
| rs20572 | C/T | Ala/Ala | 253 families tested | No association | CBR1 (21q22.12) |
| rs2230192 | G/A | Val/Val | 96 T1D screened | Minor allele frequency <3% | CBR1 (21q22.12) |
| rs1803321 | A/G | 3′UTR | 96 T1D screened | Not detected | CBR1 (21q22.12) |
| rs5031013 | A/C | Leu/Leu | 96 T1D screened | Minor allele frequency <3% | CBR1 (21q22.12) |
| rs6413462 | A/G | Ile/Val | 96 T1D screened | Not detected | CBR1 (21q22.12) |
| rs2835284 | A/G | Gln/Gln | 96 T1D screened | Not detected | CBR3 (21q22.2) |
| rs881711 | C/T | Asn/Asn | 253 families tested | No association | CBR3 (21q22.2) |
| rs2835285 | A/G | Val/Ile | 96 T1D screened | Not detected | CBR3 (21q22.2) |
| rs881712 | C/T | Val/Val | 253 families tested | No association | CBR3 (21q22.2) |
| rs1056892 | G/A | Val/Met | 253 families tested | No association | CBR3 (21q22.2) |
| rs2236433 | A/T | Ile/Ile | Not typed | KIAA0136 (21q22.13) | |
| rs219779 | G/A | Arg/Arg | 96 T1D screened | Minor allele frequency <3% | CLDN14 (21q22.3) |
| rs2073416 | A/G | Ser/Ser | 253 families tested | No association | SIM2 (21q22.2) |
| rs2073601 | A/C | Met/Leu | 253 families tested | No association | SIM2 (21q22.2) |
| rs2845804 | T/G | Intron | 253 families tested | No association | HLCS (21q22.13) |
| rs219780 | T/C | Thr/Thr | Not typed | CLDN14 (21q22.3) | |
| rs1065759 | C/T | Asn/Asn | 96 T1D screened | Not detected | HLCS (21q22.13) |
| rs1065758 | C/T | Ser/Ser | 253 families tested | No association | HLCS (21q22.13) |
| rs2230182 | C/T | Pro/Pro | 253 families tested | No association | HLCS (21q22.13) |
| rs2276231 | A/C | Arg/Ser | 96 T1D screened | Minor allele frequency <3% | DSCR5 (21q22.13) |
| rs2154538 | A/G | Val/Val | 253 families tested | No association | TTC3 (21q22.13) |
| rs2835632 | A/G | Lys/Lys | 96 T1D screened | Not detected | TTC3 (21q22.13) |
| rs1053853 | G/A | Lys/Lys | 96 T1D screened | Not detected | TTC3 (21q22.13) |
| rs1053856 | G/A | Lys/Lys | 96 T1D screened | Not detected | TTC3 (21q22.13) |
| rs2835655 | G/A | Lys/Lys | 253 families tested | No association | TTC3 (21q22.13) |
| rs1053966 | G/C | His/Asp | 96 T1D screened | Minor allele frequency <3% | TTC3 (21q22.13) |