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Extended SNP analysis in the PITX1 gene. In the second step additional markers were added in the PITX1 gene analysis. Also 160 further families were added to the analysis of PITX1in this step. Thus step 2 included a total of 276 families for genotyping. Markers rs28330, rs31210, rs474853, rs3805663, rs1700488, rs13163460, rs3776203, rs6596238, rs245128, rs2249596, rs1131611, rs254550, and rs254551 were genotyped using SNPlex. Markers rs6865399, rs2292011, rs1393082, rs657223, rs7700313, and rs39882 were genotyped using TaqMan, respectively. Base positions are indicated according to built 35 of the human genome sequence. MAF, minor allele frequency; perm, permutations; SNP, single nucleotide polymorphism; HWE, Hardy-Weinberg equilibrium probability test. Association analysis was performed using the FBAT package. |
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| SNP |
Position (built 35) |
MAF (Allele) |
HWE |
Z-score (Allele) |
P-value (Pcorrected) |
|
|
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| rs657223 |
134,383,698 |
0.40(T) |
0.21 |
1.287(A) |
0.1980 |
| rs479632 |
134,392,417 |
0.23 (G) |
1.00 |
0.539 (C) |
0.5896 |
| rs1131611 |
134,392,894 |
0.12 (T) |
0.41 |
2.433 (G) |
0.0150 (0.0283) |
| rs888685 |
134,393,688 |
0.36 (A) |
0.40 |
1.929 (T) |
0.0537 |
| rs3805663 |
134,394,099 |
0.36 (G) |
0.22 |
1.425 (A) |
0.1542 |
| rs11959298 |
134,395,438 |
0.13 (G) |
1.00 |
3.668 (A) |
0.0002 (0.0017) |
| rs6872664 |
134,395,496 |
0.12 (T) |
0.31 |
2.814 (C) |
0.0049 (0.0167) |
| rs6596188 |
134,396,001 |
0.12 (T) |
0.31 |
2.636 (A) |
0.0084 (0.0178) |
| rs6596189 |
134,396,067 |
0.13 (T) |
0.70 |
3.825 (C) |
0.0001 (0.0017) |
| rs7700313 |
134,396,298 |
0.12 (T) |
0.82 |
1.897 (T) |
0.0578 |
Philippi et al. BMC Medical Genetics 2007 8:74 doi:10.1186/1471-2350-8-74 |
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