Table 3.
Haplotype association analysis and risk prediction for DIGO susceptibility.
| Gene | Variant(s) | Haplotype/genotype | DIGO (Freq in DIGO) | Normal (Freq in normal) | AF/HF DIGO: normal | χ2 | χ2 P-value | Univariate P-value | Multivariate P-value |
|---|---|---|---|---|---|---|---|---|---|
| C1QL2 |
chr2:119157933:G: T (rs1317848) |
T | 32 (0.44) | 51 (0.67) | 0.39 | 7.71 | 0.0055 | Ref | NA |
| G | 40 (0.56) | 25 (0.33) | 0.62 | 0.00416 | 0.02782 | ||||
| RWDD1 |
chr6:116577253:A: C (rs7752566) |
C | 50 (0.69) | 70 (0.89) | 0.42 | 12.38 | 0.0004 | Ref | NA |
| A | 22 (0.31) | 6 (0.08) | 0.79 | 0.00168 | 0.01416 | ||||
| BBS1 |
chr11:66514067:A: G chr11:66524089:A: G (rs1671062 rs1791683) |
GG | 32 (0.44) | 38 (0.5) | 0.46 | 6.13 | 0.1054 | Ref | NA |
| GA | 0 (0) | 1 (0.01) | 0 | 0.98731 | |||||
| AG | 1 (0.01) | 7 (0.09) | 0.13 | 0.19719 | |||||
| AA | 39 (0.54) | 30 (0.33) | 0.57 | 0.18917 | |||||
| TTC7B |
chr14:90675084:A: G chr14:90813113:A: C (rs1286306 rs12894664) |
GA | 27 (0.38) | 37 (0.43) | 0.42 | 8.73 | 0.0332 | Ref | NA |
| GC | 20 (0.28) | 25 (0.26) | 0.44 | 0.42511 | |||||
| AC | 16 (0.22) | 13 (0.16) | 0.55 | 0.11491 | |||||
| AA | 9 (0.13) | 1 (0) | 0.9 | 0.007 | 0.01439 | ||||
| TOM1L1 |
chr17:54909364:A: G chr17:54921706:C: G chr17:54946668:C: G rs4372751 rs2958910 rs2908862 |
GGG | 50 (0.69) | 59 (0.62) | 0.46 | 9.98 | 0.0188 | Ref | NA |
| ACG | 1 (0.01) | 2 (0.01) | 0.33 | 0.5699 | |||||
| Other | 3 (0.04) | 9 (0.1) | 0.25 | 0.0873 | |||||
| ACC | 18 (0.25) | 6 (0.07) | 0.75 | 0.0069 | 0.14817 |
This table presents haplotype frequencies and statistical associations for five key genetic loci identified through MAGMA analysis. For each chromosome location, variant identifiers (rsIDs), haplotype/genotype combinations, frequencies in DIGO cases and controls, allele/haplotype frequency ratios, and statistical significance from chi-square tests, univariate analysis, and multivariate logistic regression are shown. Significant associations (p < 0.05) demonstrate differential haplotype distributions between cases and controls, with several haplotypes maintaining significance after multivariate adjustment for confounding factors. χ2 = chi-square test; Ref = reference haplotype. Significant associations (p < 0.05) are indicated for both univariate and multivariate logistic regression analyses.