Table 3.

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

	Discovery		Replication		Merge
Carrier status	Affected, n (%)	Unaffected, n (%)	Affected, n (%)	Unaffected, n (%)	Affected, n (%)	Unaffected, n (%)
One or two copies of ATGGT	9 (60)	1 (3)	10 (31)	1 (8)	19 (40)	2 (4)
No copy of ATGGT	6 (40)	34 (97)	22 (69)	12 (92)	28 (60)	46 (96)
P using Fishers two-sided test	1.7 × 10−5		0.14		1.5 × 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.