Table 1. Global transmission disequilibrium tests (HAP-TDT) of all three best two-marker haplotype combinations (according to p-values) in the genomic region covering the melanocortin 4 receptor gene (MC4R) in 424 obesity trios of the detection sample, the confirmation sample of 363 obesity trios and in the joint sample of 787 obesity trios.
1st SNP of two-marker haplotype | chrom.18 physical position in base pairsa | 2nd SNP of two-marker haplotype | chrom.18 physical position in base pairsa | detection sample (424 obesity trios) p-valueb | confirmation sample (363 obesity trios) p-valueb | joint sample (787 obesity trios) p-valueb | joint sample (787 obesity trios) hRRc for obesity risk haplotype [95% CI] | |
Haplo 1 | rs17700028 | 55,926,664 | rs12970134 | 56,035,730 | 5.2×10−4 | 0.039 | 5.7×10−4 | 3.24 [0.36–29.12] |
Haplo 2 | rs12970134 | 56,035,730 | rs1943226 | 56,186,184 | 5.2×10−4 | 0.093 | 6.0×10−5 | 1.48 [1.23–1.78] |
Haplo 3 | rs12970134 | 56,035,730 | rs1943229 | 56,237,438 | 0.001 | 0.074 | 1.7×10−4 | 1.61 [1.30–2.00] |
base pair position on chromosome 18 according to http://www.ncbi.nlm.nih.gov (hg18);
permutation-based p-value based on 106 simulations;
haplotypic relative risk (hRR) relative to the most frequent haplotype for the haplotype comprising the two obesity risk alleles of the 1st and 2nd SNP with 95% confidence intervals (95% CI).