Table 2.
Marker/haplotype | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
rs599021 | rs2235373 | rs2235371 | rs595918 | rs2013162 | Allele freq | Trios(N)a | Obsb | Expb | P | Global Pc |
Overtransmitted haplotypes | ||||||||||
A | G | — | — | — | 0.304 | 76 | 88 | 72 | 0.002 | 2.7 × 10−5 |
— | G | C | — | — | 0.513 | 77 | 111 | 85 | 9 × 10−6 | 3.1 × 10−5 |
— | G | — | G | — | 0.294 | 73 | 87 | 70 | 0.001 | 2.9 × 10−5 |
— | G | — | — | C | 0.429 | 91 | 107 | 86 | 9 × 10−4 | 4.1 × 10−5 |
— | — | C | — | C | 0.431 | 92 | 116 | 95 | 7 × 10−4 | 0.001 |
— | G | C | — | C | 0.429 | 91 | 114 | 93 | 9 × 10−4 | 8.7 × 10−5 |
A | G | C | — | C | 0.217 | 65 | 62 | 53 | 0.037 | 2.6 × 10−4 |
C | G | C | — | C | 0.212 | 65 | 62 | 51 | 0.022 | 2.6 × 10−4 |
— | G | C | A | C | 0.217 | 65 | 63 | 54 | 0.037 | 2.6 × 10−4 |
— | G | C | G | C | 0.212 | 65 | 63 | 52 | 0.022 | 2.6 × 10−4 |
Undertransmitted haplotypes | ||||||||||
A | A | — | — | — | 0.488 | 79 | 71 | 99 | 5 × 10−6 | 2.7 × 10−5 |
A | — | v | G | — | 0.575 | 93 | 103 | 125 | 5.1 × 10−4 | 0.003 |
— | A | — | G | — | 0.488 | 79 | 78 | 106 | 5 × 10−6 | 2.9 × 10−5 |
— | A | T | — | 0.427 | 77 | 56 | 77 | 5.1 × 10−4 | 3.1 × 10−5 | |
— | A | — | — | A | 0.488 | 77 | 67 | 94 | 9 × 10−6 | 4.1 × 10−5 |
A | A | T | — | — | 0.427 | 77 | 65 | 86 | 5.1 × 10−4 | 1.1 × 10−4 |
A | A | — | G | — | 0.488 | 79 | 75 | 103 | 5 × 10−6 | 8.7 × 10−5 |
A | A | — | v | A | 0.488 | 77 | 74 | 101 | 9 × 10−6 | 1.6 × 10−4 |
— | A | — | G | A | 0.488 | 77 | 74 | 101 | 9 × 10−6 | 1.6 × 10−4 |
— | A | T | G | — | 0.427 | 77 | 67 | 88 | 5.1 × 10−4 | 1.1 × 10−4 |
A | A | — | G | A | 0.488 | 77 | 74 | 101 | 9 × 10−6 | 1.6 × 10−4 |
Haplotypes consisting of 4 SNPs | ||||||||||
A | A | T | G | A | 0.427 | 77 | 72 | 93 | 5.1 × 10−4 | 2.6 × 10−4 |
A | G | C | A | C | 0.217 | 65 | 62 | 53 | 0.037 | |
C | G | C | G | C | 0.212 | 65 | 62 | 51 | 0.022 | |
A | G | C | G | A | 0.084 | 40 | 28 | 23 | 0.116 | |
A | A | C | G | A | 0.060 | 31 | 10 | 16 | 0.048 |
Number of informative case-parent trios.
Observed and expected frequencies of alleles defining haplotype transmitted.
The P value for a statistical model with whole haplotypes consisted of two, three, or four SNPs.
LD, linkage disequilibrium; CL/P, cleft lip with or without cleft palate; freq, frequency; Obs, observed; Exp, expected.