Analysis of case-parent trios at a locus with a deletion allele: association of GSTM1 with autism

BMC Genomic Data

Table 1 Population and Sampling Frequencies of Case-Parent Trios. "F, M, C" refers to Father, Mother, Child.

Actual			Observable
F, M, C Genotype	Population Frequency^a	Case Frequency^b	F, M, C Genotype	Population Frequency^a	Case Frequency^b	Label
2, 2, 2	p ⁴	p⁴/M	P, P, P	p²(3 - 2p)	p²(1 + 2r₁(1 - p))/M	a
2, 1, 2	p³(1 - p)	p³(1 - p)/M
2, 1, 1	p³(1 - p)	r₁p³(1 - p)/M
1, 2, 2	p³(1 - p)	p³(1 - p)/M
1, 2, 1	p³(1 - p)	r₁p³(1 - p)/M
1, 1, 2	p²(1 - p)²	p²(1 - p)²/M
1, 1, 1	2p²(1 - p)²	2r₁p²(1 - p)²/M
1, 1, 0	p²(1 - p)²	r₀p²(1 - p)²/M	P, P, D	p²(1 - p)²	r₀p²(1 - p)²/M	b
2, 0, 1	p²(1 - p)²	r₁p²(1 - p)²/M	P, D, P	p(1 - p)²	r₁p(1 - p)²/M	c
1, 0, 1	p(1 - p)³	r₁p(1 - p)³/M
1, 0, 0	p(1 - p)³	r₀p(1 - p)³/M	P, D, D	p(1 - p)³	r₀p(1 - p)³/M	d
0, 2, 1	p²(1 - p)²	r₁p²(1 - p)²/M	D, P, P	p(1 - p)²	r₁p(1 - p)²/M	e
0, 1, 1	p(1 - p)³	r₁p(1 - p)³/M
0, 1, 0	p(1 - p)³	r₀p(1 - p)³/M	D, P, D	p(1 - p)³	r₀p(1 - p)³/M	f
0, 0, 0	(1 - p)⁴	r₀(1 - p)⁴/M	D, D, D	(1 - p)⁴	r₀(1 - p)⁴/M	g

Note: M = p² + 2r₁p(1 - p) + r₀(1 - p)². The allele frequency of the full allele is denoted by p.
^aUnder the assumption of Hardy-Weinberg equilibrium.
^bUnder the assumption of Hardy-Weinberg equilibrium, and a risk of r₀ (r₁) for a child with zero copies (one copy) of full allele relative to the risk to a child with two copies of the full allele.

ISSN: 2730-6844