Table 2.
Relative risk estimates for candidate risk haplotypes
| Gene | Sample | No. of SNPs | No. Tagging SNPs | Tagging SNPsa | Candidate risk haplotype | R1 (95% CI)b | Freq of 0 copy c | Freq of 1 copy c | Freq of 2 copies c |
|---|---|---|---|---|---|---|---|---|---|
| FGF12 | Norway | 6 | 3 | rs11717284, rs6790664, rs1464942 | A-C-T | 1.87 (1.23–2.84) | 0.71 | 0.27 | 0.02 |
| Denmark | 6 | 3 | rs1464942, rs12106855, rs1875735 | A-G-G | 5.49 (1.90–15.8) | 0.96 | 0.04 | 0.00 | |
|
| |||||||||
| IRF6 | Norway | 7 | 2 | rs680331, rs674433 | G-G | 1.81 (1.15–2.84) | 0.70 | 0.24 | 0.05 |
| Denmark | 7 | 3 | rs680331, rs674433, rs2013162 | G-G-C | 2.24 (1.28–3.65) | 0.62 | 0.35 | 0.02 | |
|
| |||||||||
| VCL | Norway | 5 | 1 | rs4746172 | C | 1.47 (1.01–2.12) | 0.53 | 0.42 | 0.06 |
| Denmark | 5 | 3 | rs10762573, rs2131960, rs4746172 | C-A-T | 1.46 (0.93–2.29) | 0.17 | 0.55 | 0.28 | |
|
| |||||||||
| CX43 | Norway | 2 | 2 | rs12197797, rs11961755 | C-G | 1.61 (1.07–2.43) | 0.09 | 0.47 | 0.45 |
| Denmark | 2 | 2 | rs12197797, rs11961755 | G-A | 2.53 (1.43–4.49) | 0.73 | 0.25 | 0.01 | |
a
χ2 test for deviation from Hardy-Weinberg equilibrium in the 592 Norwegian control triads showed p-values <0.05 for all these SNPs.
b
R1 is the relative risk for offspring heterozygous for the candidate risk haplotype relative to an offspring with no copies of that haplotype. We imposed a simplified log-additive risk model, where risk for offspring carrying two copies of the candidate risk haplotype is equivalent to R12. Thus, only one risk parameter, R1, is estimated for offspring effects.
c
Frequency of diplotypes with 0, 1 or 2 copies of the candidate risk haplotype.