Table 2. Association status of SLC44A4 SNPs with UC in north Indian, Japanese and Dutch populations.
| North Indian | Japanese | Dutch | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MAF | P-value | OR (95% CI) | MAF | P-value | OR (95% CI) | MAF | P-value | OR (95% CI) | ||||||
| SNP | Positiona (Build hg19/GRCh38.p2) | Regionb | Cases | Controls | Cases | Controls | Cases | Controls | ||||||
| rs9461727 C>A | Chr6:g.31863944 | Intron 20 | 0.01 | 0.02 | 0.13 | 0.66 (0.38–1.14) | 0.003 | 0.005 | 0.22 | 0.53 (0.19–1.5) | 0.002 | 0.002 | 0.94 | 1.04 (0.36–3) |
| rs6915800 G>A Arg493Cys | Chr6:g.31865883 | Exon 14 | Monomorphic | 0 | 0.002 | 0.08 | 0 | Monomorphic | ||||||
| rs4947332 G>A | Chr6:g.31866420 | Intron 13 | 0.02 | 0.05 | 2.31 × 10−5 | 0.46 (0.32–0.66) | 0.01 | 0.02 | 0.03 | 0.55 (0.31–0.95) | 0.03 | 0.03 | 0.45 | 0.89 (0.67–1.2) |
| rs693906 G>C | Chr6:g.31867387 | Intron 13 | 0.08 | 0.1 | 0.22 | 0.87 (0.69–1.09) | 0.06 | 0.07 | 0.13 | 0.83 (0.65–1.06) | 0.14 | 0.16 | 0.006 | 0.82 (0.71–0.94) |
| rs11965547 G>A | Chr6:g.31868374 | Intron 13 | 0.13 | 0.13 | 0.45 | 0.93 (0.76–1.13) | 0.22 | 0.26 | 0.005 | 0.82 (0.72–0.94) | 0.11 | 0.12 | 0.22 | 0.91 (0.77–1.06) |
| rs521977 C>A | Chr6:g.31869050 | Intron 13 | 0.1 | 0.11 | 0.35 | 0.91 (0.73–1.12) | 0.07 | 0.09 | 0.03 | 0.79 (0.64–0.96) | 0.28 | 0.32 | 0.0002 | 0.81 (0.73–0.91) |
| rs660594 A>G | Chr6:g.31869473 | Intron 12 | 0.31 | 0.35 | 0.04 | 0.86 (0.75–0.99) | NOT CALLED | 0.44 | 0.49 | 0.0002 | 0.83 (0.75–0.91) | |||
| rs577272 A>G | Chr6:g.31870186 | Intron 11 | 0.33 | 0.38 | 0.007 | 0.83 (0.72–0.95) | 0.31 | 0.36 | 0.0001 | 0.78 (0.69–0.89) | 0.44 | 0.49 | 0.0004 | 0.83 (0.75–0.92) |
| rs644827 G>A Val326Met | Chr6:g.31870664 | Exon 11 | 0.33 | 0.38 | 0.008 | 0.83 (0.72–0.95f | 0.31 | 0.36 | 0.0001 | 0.78 (0.69–0.89) | 0.44 | 0.49 | 0.0004 | 0.83 (0.75–0.92) |
| rs644774 A>G | Chr6:g.31870713 | Intron 10 | 0.33 | 0.38 | 0.008 | 0.83 (0.72–0.95) | 0.31 | 0.36 | 0.0001 | 0.79 (0.7–0.89) | 0.44 | 0.49 | 0.0004 | 0.83 (0.75–0.92) |
| rs494620 G>A Tyr271Tyr | Chr6:g.31870936 | Exon 10 | 0.48 | 0.41 | 1.25 × 10−5 | 1.34 (1.18–1.53) | 0.36 | 0.43 | 2.68 × 10−6 | 0.75 (0.67–0.85) | 0.41 | 0.37 | 0.002 | 1.18 (1.06–1.31) |
| rs2242665 A>G Ile187Val | Chr6:g.31871532 | Exon 8 | 0.33 | 0.38 | 0.008 | 0.83 (0.72–0.95) | 0.31 | 0.36 | 0.0001 | 0.79 (0.69–0.89) | 0.44 | 0.49 | 0.0004 | 0.83 (0.75–0.92) |
| rs2242664 A>G Gly179Gly | Chr6:g.31871554 | Exon 8 | 0.33 | 0.38 | 0.008 | 0.83 (0.72–0.95) | 0.31 | 0.36 | 0.0001 | 0.79 (0.69–0.89) | 0.44 | 0.49 | 0.0004 | 0.83 (0.75–0.92) |
| rs3132442 A>G | Chr6:g.31871717 | Intron 7 | 0.34 | 0.38 | 0.007 | 0.83 (0.72–0.95) | 0.31 | 0.36 | 0.0001 | 0.79 (0.69–0.89) | 0.46 | 0.51 | 0.0002 | 0.83 (0.75–0.91) |
| rs3130481 C>G | Chr6:g.31871979 | Intron 7 | 0.34 | 0.38 | 0.007 | 0.83 (0.72–0.95) | 0.31 | 0.36 | 0.0001 | 0.78 (0.69–0.89) | 0.46 | 0.51 | 0.0002 | 0.83 (0.75–0.91) |
| rs3130482 A>C | Chr6:g.31872005 | Intron 7 | 0.34 | 0.38 | 0.007 | 0.83 (0.72–0.95) | 0.31 | 0.36 | 0.0001 | 0.78 (0.69–0.89) | 0.46 | 0.51 | 0.0002 | 0.83 (0.75–0.91) |
| rs614549 A>G | Chr6:g.31872848 | Intron 7 | 0.44 | 0.37 | 1.32 × 10−5 | 1.35 (1.18–1.54) | 0.42 | 0.49 | 1.4 × 10−7 | 0.73 (0.65–0.82) | 0.36 | 0.32 | 0.002 | 1.18 (1.06–1.31) |
| rs12661281 A>T Asp123Val | Chr6:g.31874821 | Exon 6 | 0.12 | 0.08 | 0.0002 | 1.52 (1.22–1.9) | 0.1 | 0.13 | 7.8 × 10−5 | 0.68 (0.57–0.83) | 0.16 | 0.14 | 0.03 | 1.18 (1.02–1.36) |
| rs2736428 G>A (NI GWAS INDEX SNP) | Chr6:g.31876147 | Intron 2 | 0.39 | 0.29 | 4.94 × 10−10 | 1.56 (1.35–1.79) | 0.42 | 0.51 | 3.37 × 10−9 | 0.71 (0.63–0.79) | 0.33 | 0.29 | 0.002 | 1.19 (1.07–1.33) |
| rs6907185 A>G | Chr6:g.31876907 | Intron 2 | Failed HWE | 0.002 | 0.006 | 0.05 | 0.33 (0.1–1.07) | 0.07 | 0.07 | 0.36 | 1.1 (0.9–1.34) | |||
| rs9267658 G>A | Chr6:g.31878208 | Intron 1 | 0.04 | 0.04 | 0.67 | 0.93 (0.67–1.29) | MAF<0.001 | 0.13 | 0.16 | 0.01 | 0.83 (0.72–0.96) | |||
| rs9267659 G>A | Chr6:g.31878457 | Intron 1 | 0.11 | 0.12 | 0.48 | 0.93 (0.76–1.14) | 0.07 | 0.09 | 0.03 | 0.79 (0.64–0.98] | 0.21 | 0.22 | 0.36 | 0.94 (0.83–1.07] |
Example of description of variants – rs9461727: human genome reference sequence hg19 chr6:g.31863944 C>A.
Exons are numbered according to NG_023058.1.