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Table 3 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.

From: Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis

SNP

Position (built 35)

MAF (Allele)

HWE

Z-score (Allele)

P-value (Pcorrected)

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