TABLE 3

Overall results by haplotype for case-control–and family-based analysis

Haplotype*Control frequenciesCase frequenciesObserved transmissionsExpected transmissionsP
Case-control analysis (n = 2,010 case and 1,643 control subjects)
    A (GTGITTGT)0.280.270.22
    B (GCADCTCC)0.160.180.17
    C (GCGDCTGC)0.160.150.49
    D (GCADCAGC)0.110.100.13
    E (ATGDCACC)0.080.080.56
    F (GTGDCTGT)0.060.050.86
Family association analysis (n = 521 families)
    A (GTGITTGT)0.271541620.35
    B (GCADCTCC)0.17981010.60
    C (GCGDCTGC)0.1497900.26
    D (GCADCAGC)0.1057650.19
    E (ATGDCACC)0.0857490.15
    F (GTGDCTGT)0.0852510.83
  • Haplotype results obtained using the HBAT option in the FBAT program (26).

  • *

    * The order of SNPs making up the haplotypes is HNF1_rs959398, HNF1_rs1920792, HNF1_GE117884_349, HNF1α_rs3830659, HNF1_rs1169292, HNF1_rs2071190, HNF1_P288P, and HNF1_rs1169306.

  • Affected proband frequency for family analysis. D, deletion; I, insertion.