|
KRT8 diplotype rs1907671-rs4300473-rs2035878-rs2035875
|
E
|
CON-
|
CON+
|
ICM no Res.
|
ICM CFTR Res.
|
|---|
|
1122/1122
|
0.183
|
0.141
|
0.047
|
0.570
|
0.045
|
|
1122/2211
|
0.405
|
0.588
|
0.439
|
0.357
|
0.589
|
|
2211/2211
|
0.224
|
0.101
|
0.428
|
0.071
|
0.182
|
|
other pooled
|
0.188
|
0.170
|
0.086
|
0.002
|
0.184
|
|
P
| |
Praw = 0.0319; Pcorr = 0.0252
|
Praw = 0.0049; Pcorr = 0.0035
|
- Alleles at all PCR-RFLP typed SNPs are named for absence (allele 1) or presence (allele 2) of diagnostic restriction site; E: expectancy values, based on Hardy-Weinberg-Law, relying on haplotype frequencies given in Table 1 for entire cohort (101 CF families); CON+: concordant mildly affected patient pair (13 families) [5]; CON-: concordant severely affected patient pair (12 families) [5]; ICM Res.: patients who exhibit CFTR-mediated residual chloride secretion in ICM (intestinal current measurement; 22 families) [5]; ICM no Res.: patients who do not exhibit residual chloride secretion in ICM (intestinal current measurement; 14 families) [5]; Praw: observed uncorrected P-value; Pcorr: corrected for multiple testing of 4 SNPs [25]
