Description Usage Arguments Value Author(s) References Examples
We consider a binary trait and focus on detecting association with disease at a single locus with two alleles A and a. The likelihood ratio test is based on a binomial mixture model of J components (J ≥ 2) for diseased cases:
P_{η}(X_D=g)=∑_{j=1}^J α_j B_2(g, θ_j), \; g=0, 1, 2, \; J ≥q 2, \; ∑_{j=1}^J α_j=1, \; θ_j, α_j \in (0, 1),
where η=(η_j)_{j ≤q J}, η_j=(θ_j, α_j)^T, j=1, …, J, B_2(g, θ_j) is the probability mass function for a binomial distribution X \sim Bin(2, θ_j), and θ_i=θ_j if and only if i=j. θ_j is the probability of having the allele of interest on one chromosome for a subgroup of case j. In particular, J is likely to be quite large for many of the complex disease with genetic heterogeneity. Note that the LRT-H can be applied to association studies without the need to know the exact value of J while allowing J ≥ 2.
1 | gLRTH_A(n0, n1, n2, m0, m1, m2)
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n0 |
AA genotype frequency in case |
n1 |
Aa genotype frequency in case |
n2 |
aa genotype frequency in case |
m0 |
AA genotype frequency in control |
m1 |
Aa genotype frequency in control |
m2 |
aa genotype frequency in control |
The test statistic and asymptotic p-value for the likelihood ratio test for GWAS under genetic heterogeneity
Xiaoxia Han and Yongzhao Shao
Qian M., Shao Y. (2013) A Likelihood Ratio Test for Genome-Wide Association under Genetic Heterogeneity. Annals of Human Genetics, 77(2): 174-182.
1 | gLRTH_A(n0=2940, n1=738, n2=53, m0=3601, m1=1173, m2=117)
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