Table 3.

Frequency of PWC carrying haplotype ATGGT differed between affected and unaffected individuals

DiscoveryReplicationMerge
Carrier statusAffected, n (%)Unaffected, n (%)Affected, n (%)Unaffected, n (%)Affected, n (%)Unaffected, n (%)
One or two copies of ATGGT9 (60)1 (3)10 (31)1 (8)19 (40)2 (4)
No copy of ATGGT6 (40)34 (97)22 (69)12 (92)28 (60)46 (96)
P using Fishers two-sided test1.7 × 10−50.141.5 × 10−5
  • The frequency of individuals at least heterozygous for the haplotype ATGGT differed between affected and unaffected PWC; haplotype ATGGT was associated with risk because it occurred in 40% of the cases but in only 4% of the unaffected cases.