Generalized osteoarthritis (OA) is a common disease, more often affecting women than men. Although genetic factors are known to be the major risk factor, the genes related to its development are as yet undetermined. We investigated the association between estrogen receptor gene polymorphisms and generalized OA.
Pvu II and Xba I restriction fragment length polymorphisms (RFLP) of estrogen receptor gene were analyzed in 65 Japanese patients with generalized OA and in 318 healthy control women. The RFLP were represented as Pp(Pvu II) and Xx(Xba I), with capital and small letters signifying the absence and the presence of restriction sites, respectively.
Estrogen receptor genotype PpXx, with the combination of the Pvu II and Xba I RFLP, is a significant risk factor for the disease subset (odds ratio 1.86, 95% confidence interval 1.03-3.24; p = 0.039). The association of this genotype was more obvious in patients with severe radiographic changes and in younger patients.
Some variant of the estrogen receptor gene is a genetic marker for generalized OA. How this genotype affects development of the disease remains to be elucidated.