Table 1

Genotype frequencies for single markers used in both direct and indirect association analysis obtained with the Haploview 3.2 software package. P-values and OR are for allelic analysis.
Exon/Intron
 Nucleotide change
 Chromosome location
 Amino acid change
 Genotypes Cases 11/12/22
 Controls 11/12/22
 MAF Cases/controls
 Allele 1 vs. allele 2 p-value
 OR (95% CI)
1
 g.IVS1-70G>A
 121 754 613
 ----
 165/115/19
 206/176/24
 0.26/0.28
 0.43
 0.90 [0.71–1.15]
4
 T131>C
 121 786 462
 Val44Ala
 296/1/0
 405/0/0
 0.0/0.0
 0.42
 ND
4
 C636>T
 121 786 967
 Pro212Pro
 296/1/0
 405/0/0
 0.0/0.0
 0.42
 ND
5
 g.IVS4-26G>A
 121 788 920
 ----
 153/115/32
 97/181/34
 0.30/0.30
 0.91
 0.98 [0.78–1.24]
5
 C1134>T
 121 789 001
 Leu378Leu
 295/2/0
 404/1/0
 0.0/0.0
 0.58
 2.73 [0.36–20.9]
6
 g.IVS5+188A>C
 121 789 313
 ----
 133/118/42
 173/181/53
 0.34/0.35
 0.78
 0.97 [0.77–1.21]
6
 g.IVS5+235A>G
 121 789 360
 ----
 151/115/33
 196/183/32
 0.30/0.30
 0.95
 1.01 [0.80–1.27]
7
 g.IVS6-62G>A
 121 804 161
 ----
 291/6/0
 397/8/0
 0.01/0.01
 1.00
 1.02 [0.37–2.84]
7
 g.IVS6-23T>C
 121 804 200
 ----
 154/118/27
 202/179/31
 0.29/0.29
 0.86
 0.98 [0.76–1.23]
10
 C1861>T
 121 814 302
 Arg621Cys
 293/4/0†
 395/10/0
 0.01/0.01
 0.42
 0.54 [0.18–1.64]
10
 G2125>C
 121 814 565
 Glu709Gln
 296/1/0
 401/4/0
 0.0/0.0
 0.40
 0.34 [0.05–2.27]

†One PSP affected (not accounted for here) was found to be homozygous for this variant. OR-Odds ratio. The SNPs used for indirect analysis were highly heterozygous; rs1946649, g.IVS1-70G>A (ObsHet; 0.41); rs2242224, g.IVS4-26G>A (ObsHet; 0.42); rs304383, g.IVS5+188A>C (ObsHet; 0.43); rs2242223, g.IVS5+235A>G (ObsHet; 0.42) and rs22900987, g.IVS6-23T>C (0.42).

Myhre et al. BMC Medical Genetics 2008 9:19   doi:10.1186/1471-2350-9-19