Table 2.
KRT8 diplotype distributions
| 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]