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Association of repeat polymorphisms in the estrogen receptors α, β, and androgen receptor genes with knee osteoarthritis
Author(s) -
Fytili P,
Giannatou E,
Papanikolaou V,
Stripeli F,
Karachalios Th,
Malizos K,
Tsezou A
Publication year - 2005
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2005.00495.x
Subject(s) - medicine , estrogen receptor beta , androgen receptor , endocrinology , estrogen receptor alpha , genotype , estrogen receptor , allele , osteoarthritis , estrogen , biology , gene , genetics , pathology , prostate cancer , alternative medicine , cancer , breast cancer
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.