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Table 2 KRT8 diplotype distributions

From: An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion

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

  1. 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]