@article{3094852, title = "Association of repeat polymorphisms in th estrogen receptors α, β, and androgen receptor genes with knee osteoarthritis", author = "Fytili, P. and Giannatou, E. and Papanikolaou, V. and Stripeli, F. and Karachalios, Th. and Malizos, K. and Tsezou, A.", journal = "Application of Clinical Genetics", year = "2005", volume = "68", number = "3", pages = "268-277", doi = "10.1111/j.1399-0004.2005.00495.x", keywords = "alanine; androgen receptor; cysteine; estrogen receptor alpha; estrogen receptor beta; guanine; tyrosine, adult; aged; allele; article; case control study; cohort analysis; controlled study; female; gene frequency; genetic association; genetic polymorphism; genetic variability; genotype; Greece; heredity; human; human cell; knee osteoarthritis; major clinical study; male; nucleotide repeat; pathogenesis; priority journal; risk factor; total knee replacement, Aged; Aged, 80 and over; Case-Control Studies; Estrogen Receptor alpha; Estrogen Receptor beta; Female; Gene Frequency; Humans; Male; Microsatellite Repeats; Middle Aged; Osteoarthritis, Knee; Polymorphism, Genetic; Receptors, Androgen; Risk Factors", abstract = "Genetic factors have been shown to play an important role in the etiology of osteoarthritis (OA). To elucidate the possible role of genetic variation in the estrogen receptors α and β (ER-α, ER-β) and androgen receptor (AR) genes with knee OA, the -1174(TA)n, c.1092+3607(CA)n, and c.172(CAG)n repeat polymorphisms of ER-α, ER-β, and AR genes were studied. A case-control cohort of 158 patients with idiopathic knee OA and 193 controls were used. A significant difference was observed in the frequency distribution of -1174(TA)9-25 and c.1092+3607(CA)13-27 repeat polymorphisms of the ER-α and ER-β genes between OA patients and controls (p < 0.005 and p < 0.0001, respectively). A significantly increased odds ratio (OR) for knee OA was observed in individuals having long alleles (LL) genotype for ER-α gene and LL and one short and one long allele (SL) genotypes for ER-β gene compared to individuals with the short alleles (SS) genotype (95% CI 1.03-3.5; p = 0.04 and CI 2.4-8.3 and 2.5-7.5; p < 0.001, respectively). When ORs were adjusted for various risk factors, it was observed that women with LL genotypes for ER-β and AR genes showed significantly increased risk for OA development (p = 0.002 and 0.001). An association between c.1092+3607(CA)13-27 and c.172(CAG)8-34 repeat polymorphisms of the ER-β and AR genes and knee OA was found in individuals of Greek descent. © Blackwell Munksgaard, 2005." }