|
KRT8 haplotype rs1907671-rs4300473-rs2035878-rs2035875
|
T
|
CON-
|
CON+
|
ICM no Res.
|
ICM CFTR Res.
|
|---|
|
1122
|
0.428
|
0.515
|
0.287
|
0.731
|
0.394
|
|
2211
|
0.473
|
0.399
|
0.670
|
0.269
|
0.526
|
|
other pooled
|
0.099
|
0.086
|
0.043
|
< 0.001
|
0.080
|
|
P
| |
Praw = 0.0028; Pcorr = 0.0051
|
Praw = 0.0151; Pcorr = 0.0049
|
- Alleles at all PCR-RFLP typed SNPs are named for absence (allele 1) or presence (allele 2) of diagnostic restriction site [5]; T: transmitted chromosomes of the entire patient population of 101 CF families (171 F508del-CFTR homozygotes) [5]; 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]
