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. Author manuscript; available in PMC: 2010 Jun 5.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5;150B(4):560–569. doi: 10.1002/ajmg.b.30862

Table I.

Association analyses of PAH variations

US Cases / Controls
(n = 230 / 474)		 US Trios
(n = 260)		 Bulgarian Trios
(n = 659)		 African-American
Families (n = 464)		 Combined
Analysis
(All samples)
SNP Position N Case
Freq		 Control
Freq		 Z1 p1 Z2 p2 Allele
Freq		 Z3 p3 Allele
Freq		 Z4 p4 X82 Pall
rs1522296 101834917 G 0.707 0.686 0.77 0.450 1.61 0.11 0.68 2.23 0.025 0.49 0.01 1.00 13.4 0.099
rs10778209 101808102 G 0.765 0.751 0.58 0.565 0.76 0.45 0.72 -0.24 0.813 0.92 -0.58 0.56 4.3 0.826
rs10860935 101807061 Ta 0.850 0.868 -0.94 0.371 2.27 0.02 0.84 1.67 0.094 0.66 -0.63 0.53 15.5 0.051
rs1522305 101804886 G a 0.898 0.843 2.99 0.006 0.46 0.65 0.88 2.39 0.015 0.82 1.39 0.17 23.3 0.003
rs1722392 101802875 C 0.539 0.558 -0.67 0.528 -0.20 0.84 0.52 -1.38 0.167 0.57 0.01 0.99 5.2 0.734
rs2037639 101795480 G 0.733 0.738 -0.23 0.818 -1.40 0.16 0.77 0.60 0.550 0.87 -0.27 0.79 5.7 0.680
rs1126758 101773054 A 0.557 0.582 -0.90 0.376 -1.36 0.17 0.58 1.23 0.218 0.80 -0.07 0.95 8.6 0.376
rs12312872 101771783 Aa 0.858 0.818 1.98 0.050 0.63 0.53 0.86 1.85 0.064 0.63 -0.77 0.44 14.4 0.072
rs937476 101771694 Ab 0.586 0.575 0.38 0.722 0.57 0.57 0.56 -2.07 0.039 0.55 1.39 0.17 11.9 0.157
rs1042503 101770830 G 0.714 0.727 -0.51 0.614 -2.00 0.05 0.74 0.44 0.664 0.95 -0.72 0.47 9.5 0.305
K274E 101770744 A 0.98 0.00 1.00
rs1722387 101765200 G 0.843 0.855 -0.59 0.572 0.91 0.37 0.84 1.38 0.167 0.85 0.32 0.75 7.3 0.506
L321L 101764809 C 0.94 0.62 0.54
rs12425434 101764197 C 0.716 0.723 -0.30 0.769 -2.20 0.03 0.73 -0.22 0.829 N/A
rs772897 101761598 Gc 0.843 0.848 -0.23 0.822 1.08 0.28 0.83 1.11 0.269 0.82 1.25 0.21 8.7 0.368
rs2245360 101758674 G 0.642 0.638 0.17 0.870 0.72 0.47 0.62 -2.18 0.030 0.81 -0.23 0.82 9.2 0.323
N426N 101757710 T 0.86 0.67 0.50
rs1801153 101756896 G 0.811 0.787 1.06 0.312 0.18 0.86 0.74 0.84 0.399 0.39 0.53 0.60 5.5 0.703

“Results from association analyses of 18 PAH variations in four independent samples. SNPs are provided in the direction of PAH transcription 5′ to 3′. N = nucleotide for which frequency data are listed. Freq = frequency of allele for which nucleotide is provided (common allele). Z = test statistic for common allele (negative = risk conferred by minor allele). Combined analysis using Fisher’s method of combining probabilities from independent tests of significance (distributed as χ22N statistic). Reference allele nomenclature consistent with HapMap and reference sequence designations.

a

SNP genotyped on “+” strand, allele provided is “reference” allele.

b

SNP genotyped on “-“ strand, allele provided is the “reference” allele.

c

SNP genotyped on “-“ strand, allele provided is ““other”” allele. SNP positions based on dbSNP build 129.