Table 1.

Frequency distribution of the A91V and N252S PRF1 variations and the OPNhigh genotypes in 14 ALPS and 28 DALD patients

ALPS*
DALD†
Controls
Genotypes according to variation
N
%
N
%
N
%
PRF1 N252S       
    NN   12   85.7   28   100   814   99.8  
    NS   2   14.3   0   0   2   0.2  
    SS   0   0   0   0   0   0  
PRF1 A91V       
    AA   14   100   22   78.5   744   91.2  
    AV   0   0   5   17.9   69   8.4  
    VV   0   0   1   3.6   3   0.4  
PRF1 and OPN susceptibility genotypes‡       
    None   4   28.6   6   21.4   51   38.1  
    PRF1 alone   2   14.3   0   0   10   7.5  
    OPN alone   8   57.1   16   57.2   70   52.2  
    PRF1 + OPN
 		 0
 		 0
 		 6
 		 21.4
 		 3
 		 2.2
 
ALPS*
DALD†
Controls
Genotypes according to variation
N
%
N
%
N
%
PRF1 N252S       
    NN   12   85.7   28   100   814   99.8  
    NS   2   14.3   0   0   2   0.2  
    SS   0   0   0   0   0   0  
PRF1 A91V       
    AA   14   100   22   78.5   744   91.2  
    AV   0   0   5   17.9   69   8.4  
    VV   0   0   1   3.6   3   0.4  
PRF1 and OPN susceptibility genotypes‡       
    None   4   28.6   6   21.4   51   38.1  
    PRF1 alone   2   14.3   0   0   10   7.5  
    OPN alone   8   57.1   16   57.2   70   52.2  
    PRF1 + OPN
 		 0
 		 0
 		 6
 		 21.4
 		 3
 		 2.2
 
*

The overall genotypic distribution of N252S was significantly different from controls (P = .0016, Fisher exact test).

†

The overall genotypic distribution of A91V was significantly different from controls (P = .01, Chi square test); frequency of PRF1+OPN susceptibility genotypes was significantly higher than in controls (P = .0009, Fisher exact test).

‡

Genotypes with the N252S (in ALPS) or A91V (in DALD) PRF1 variations (either homozygous or heterozygous) and/or the 282C-750T-1083A-1239C or 282C-750T-1083G-1239C OPNhigh haplotypes.

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