Table 4.
Estimated Haplotype Frequencies in Patients with T1D and Controls, for 10-SNP IL4R Haplotypes, Based on EM Algorithm Analysis of the Seven-SNP Molecular Haplotype (Table 3) and the Three Additional 5′ SNPs[Note]
|
Frequency in % (SD)c in |
|||||
| HaplotypeLabela | IL4R 10-SNP Haplotypeb | Controls (N=188)f | Patients (N=180)f | ORd (95% CI) | Pe |
| CC(H-5) | CC-ACCTCCGT | 5.8 (1.7) | 0 | .09 (.0–.5) | .001 |
| CT(H-5) | CT-ACCTCCGT | 8.5 (2.3) | 5.8 (2.2) | .66 (.3–1.6) | .33 |
| CT(H-3) | CT-GCCTCCGT | .9 (.6) | 0 | .62 (.0–6.0) | .21 |
| TC(H-3) | TC-GCCTCCGT | 0 | .9 (1.1) | 1.70 | .19 |
Note.— Total χ2 (23 df) for all 10-SNP haplotypes = 36.03; P=.04.
The haplotype label names the 10-SNP haplotypes by the identity of the −3223 and −1914 alleles, followed, in parentheses, by the eight-SNP haplotype ID as presented by Mirel et al. (2002).
The hyphen in each haplotype separates the two promoter SNPs from the eight coding-sequence SNPs.
The SD was computed using 100 bootstrap replicates. Of the possible 512 haplotypes, 24 were observed.
Where the frequency in patients was 0, the ORs have been computed under the assumption that a single patient sample carried the haplotype. Where the frequency in controls was 0, the ORs have been computed under the assumption that a single control sample carried the haplotype.
Differences in allele frequencies between cases and controls were tested using a χ2 test.
Sample size (N) refers to the number of chromosomes.