A major predisposing allele of the type II collagen gene as the causative factor for osteoarthrosis could be excluded in this population. A spectrum of mutations associated with different alleles of this gene could not be excluded, however. Further, these two forms of cartilage disease can be caused by gene defects with reduced penetrance and the effect of such an allele is easily masked under the high frequency of normal alleles.
Vikkula, Miikka ; Nissilä, M ; Hirvensalo, E ; Nuotio, P ; Palotie, A ; et. al. Multiallelic polymorphism of the cartilage collagen gene: no association with osteoarthrosis.. In: Annals of the rheumatic diseases, Vol. 52, no.10, p. 762-4 (1993)