Table 3

T1D associations with individual AAs within clusters of, respectively, DQ8/9 and DQ2 haplotypes

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  • Among polymorphic AAs in respective clusters, 2 out of 11 AAs in the DQ8/9 haplotype cluster show no association (Fisher exact P value >0.05, highlighted in yellow), and 7 out of 12 AAs in the DQ2 haplotype cluster show no association (Fisher exact P value >0.05) with T1D. Within respective clusters, the computed Fisher exact calculations indicate whether the residue has differential associations between AAs (Fisher exact P value <0.01, highlighted in yellow). Ten AAs, represented by two AAs, are found to have significant differential associations in the DQ8/9 cluster, in which (α22, α23, α44, α49, α51, α53, α54, α73) are in complete LD in the DQ8/9 cluster. Seventeen AAs in the DQ2 cluster, represented by two AAs (α44, β135), have differential T1D associations, in which (α22, α44, α49, α51) are in complete LD and so are (α31, α37, α47, α48, α50, α72, α158, α160, α172, α212, β135). Four shared AAs (α22, α44, α49, α51) are indicative of associations of AAs among carriers of DQ8/9 or those of DQ2. Frequencies (%) of AAs among control subjects are listed within two DQ haplotype clusters, and so are estimated ORs, z scores, and P values. Fisher exact P values measure the significance of AA association with T1D within each DQ cluster.

  • * There are thirteen residues on the α-chain together with β135 here that are in perfect LD with each other and are listed in Supplementary Table 1. Risk and protective haplotypes are highlighted green and red, respectively, at the significance level of 5%.