Table 2.
Association of the 18 nonsynonymous SNVs of IGHV genes as candidates and rs4774175
| Association statistics OR (95% CI) Plogistic | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| SNVs | Position | Alleles Ref/Alta |
Gene | r2 with rs6423677 | Distance from rs6423677 | RAF KDb/Ctrlb | PHWE | Single-SNP | Conditionalc |
| rs61999676 | 106926328 | A/C | V3-43 | 0.15 | 204836 | 0.33/0.32 | 0.60 |
1.07 (0.97–1.20) 0.19 |
0.96 (0.85–1.08) 0.50 |
| rs79008247 | 106926456 | A/C | V3-43 | 0.16 | 204708 | 0.33/0.31 | 0.21 |
1.11 (0.99–1.86) 0.063 |
1.00 (0.88–1.12) 0.95 |
| rs7141669 | 106963101 | C/T | V1-45 | 0.17 | 168063 | 0.34/0.33 | 0.98 |
1.08 (0.97–1.20 0.14) |
0.96 (0.86–1.09) 0.55 |
| rs7148607 | 106993945 | T/C | V3-48 | 0.17 | 137219 | 0.36/0.35 | 0.78 |
1.09 (0.98–1.20) 0.12 |
0.97 (0.86–1.09) 0.60 |
| rs2073674 | 107013129 | A/C | V3-49 | 0.24 | 118035 | 0.41/0.39 | 0.16 |
1.07 (0.97–1.19) 0.17 |
0.93 (0.83–1.05) 0.26 |
| rs2073673 | 107013201 | G/T | V3-49 | 0.23 | 117963 | 0.59/0.58 | 0.18 |
1.03 (0.93–1.14) 0.59 |
0.89 (0.79–1.00) 0.044 |
| rs2516904 | 107078567 | T/C | V1-58 | 0.68 | 52597 | 0.54/0.49 | 0.03 |
1.20 (1.09–1.32) 3.0 × 10−4 |
0.96 (0.80–1.15) 0.65 |
| rs72483334 | 107099262 | T/C | V3-62 | 0.74 | 31902 | 0.54/0.49 | 0.24 |
1.22 (1.10–1.34) 1.1 × 10−4 |
0.97 (0.79–1.00) 0.79 |
| rs113692972 | 107099328 | A/T | V3-62 | 0.74 | 31836 | 0.53/0/49 | 0.21 |
1.20 (1.09–1.32) 3.0 × 10−4 |
0.92 (0.76–1.13) 0.44 |
| rs2072045 | 107113851 | C/T | V3-64 | 0.76 | 17313 | 0.54/0.49 | 0.19 |
1.20 (1.08–1.32) 3.6 × 10−4 |
0.90 (0.73–1.10) 0.30 |
| rs11846079 | 107114009 | T/C | V3-64 | 0.75 | 17155 | 0.54/0.49 | 0.49 |
1.20 (1.08–1.32) 4.3 × 10−4 |
0.89 (0.72–1.10) 0.28 |
| rs2073670 | 107114193 | A/G | V3-64 | 0.76 | 16971 | 0.54/0.49 | 0.31 |
1.20 (1.09–1.32) 3.2 × 10−5 |
0.91 (0.73–1.12) 0.36 |
| rs6423677 | 107131164 | A/C | V3-66 | NA | 0 | 0.49/0.43 | 0.09 |
1.26 (1.14–1.39) 4.5 × 10−6 |
NA |
| rs149638514 | 107131290 | T/C | V3-66 | 0.90 | 126 | 0.50/0.45 | 0.23 |
1.22 (1.10–1.34) 1.0 × 10−4 |
0.74 (0.52–1.04) 0.09 |
| rs4774175 | 107152027 | G/A | Intergene | 0.85 | 20863 | 0.50/0.45 | 0.56 |
1.22 (1.10–1.35) 1.7 × 10−4 |
0.89 (0.68–1.17) 0.40 |
| rs8009570 | 107170055 | G/A | V1-69 | 0.72 | 38891 | 0.54/0.49 | 0.32 |
1.23 (1.11–1.35) 5.7 × 10−5 |
1.01 (0.82–1.23) 0.94 |
| rs55891010 | 107170062 | A/G | V1-69 | 0.67 | 38898 | 0.52/0.47 | 0.11 |
1.24 (1.12–1.37) 4.4 × 10−5 |
1.05 (0.87–1.26) 0.63 |
| rs11845244 | 107170077 | C/T | V1-69 | 0.81 | 38913 | 0.52/0.47 | 0.48 |
1.23 (1.12–1.36) 3.4 × 10−5 |
0.99 (0.77–1.26) 0.91 |
| rs2073669 | 107178965 | A/C | V2-70 | 0.84 | 47801 | 0.51/0.46 | 0.80 |
1.23 (1.11–1.36) 6.1 × 10−5 |
0.91 (0.69–1.20) 0.51 |
SNV single nucleotide variant, Ref reference allele, Alt alternative allele, RAF risk allele frequency, Ctrl control, OR odds ratio, CI confidence interval, PHWE p value for deviation from Hardy–Weinberg equilibrium in the control population
aAlleles associated with KD are underlined
bJapanese KD cases (n = 1418) and controls (n = 1700) prepared as a follow-up sample panel
cConditional logistic regression analyses