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. 2003 May 13;72(6):1505–1514. doi: 10.1086/375655

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.

a

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).

b

The hyphen in each haplotype separates the two promoter SNPs from the eight coding-sequence SNPs.

c

The SD was computed using 100 bootstrap replicates. Of the possible 512 haplotypes, 24 were observed.

d

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.

e

Differences in allele frequencies between cases and controls were tested using a χ2 test.

f

Sample size (N) refers to the number of chromosomes.