Igor Sandalov, Leonid Padyukov
Between the Lines of Genetic Code, 2014, Pages 151-174
Publication year: 2001


We introduce new quantitative characteristics of the population using an analogy to the system of multi-spin molecules: the disease fields, which may depend on interactions, and the susceptibility to disease as derivative of genetic vector’s (GV’s) frequency of cases with respect to these fields. The genetic vector’s approach (GVA) is applied to statistical analysis of the interaction of two SNP haplotype of HTR2A and shared epitope (SE) alleles in relation to development of rheumatoid arthritis (RA). The analysis is performed for two independent cohorts, EIRA and NARAC, and based on the evaluation of double- and triple genotype–genotype versus SE alleles correlations. The Gibbs-like parametrization of GV frequencies makes analysis transparent and easy interpretable. We find that the main contribution into association to RA comes from GVs containing double SE. GVA may resolve an opposite role in risk/protection from different pairs of genetic variations and reveal an association to RA whereas the univariate analysis does not show significant association.