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. Author manuscript; available in PMC: 2011 Aug 11.
Published in final edited form as: Nat Protoc. 2011 Feb 3;6(2):121–133. doi: 10.1038/nprot.2010.182

TABLE 3.

Linear predictors for genotype variables in a selection of standard disease models.

Genotype Model
Multiplicative Genotypic Recessive Dominant
a/a b 0 b 0 b 0 b 0
a/A b0 + b1 b0 + b1 + b2 b 0 b0 + b1
A/A b0 + 2b1 b0 + 2b1 b0 + b1 b0 + b1
Interpretation b1 provides an estimate of the log odds ratio for disease risk associated with each additional A allele (also called the haplotype relative risk). If b1 is significant, then there is a multiplicative contribution to disease risk in that the odds ratio for disease risk increases multiplicatively for every additional A allele b1 and b2 provide estimates of the log odds ratio for disease risk in individuals with genotypes a/A and A/A, respectively, relative to an individual with genotype a/a. A likelihood ratio test of whether both b1 and b2 are significant is equivalent to the conventional 2 d.f. test for association in a 2 × 3 contingency table b1 provides an estimate of the log odds ratio for disease risk in an individual with at least 1 A allele (genotype A/A or a/A) compared with an individual with no A alleles (genotype a/a). A test of whether b1 is significant corresponds to a 1 d.f. test for association in a 2 × 2 contingency table of disease outcome by genotype classified as A/A or not b1 provides an estimate of the log odds ratio for disease risk in an individual with two A alleles (genotype A/A) compared with an individual with one or two A alleles (genotype a/A or a/a). A test of whether b1 is significant corresponds to a 1 d.f. test for association in a 2 × 2 contingency table of disease outcome by genotype classified as a/a or not