The single nucleotide polymorphism (SNP) of the estrogen receptor-β gene, rs1256049, is associated with knee osteoarthritis in Korean population.
BACKGROUND
Estrogens affect articular cartilage metabolism via estrogen receptors (ER) in chondrocytes and are believed to play an important role in the pathophysiology of osteoarthritis (OA). The aim of this study is to determine whether the single nucleotide polymorphism (SNP) of the estrogen receptor-β (ER-β) is associated with an increased susceptibility to knee OA.


METHODS
The possible influence of the SNP of the ER-β was investigated in 286 OA patients and 294 healthy subjects as controls. A polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) assay and a PCR-single strand conformation polymorphism (SSCP) assay were used to identify the Rsa polymorphism genotype among healthy controls and OA patients, respectively.


RESULTS
For rs1256049 (Rsa), frequencies of genotypes GG, GA, and AA were 49.0% (144/294), 43.5% (128/294), and 7.5% (22/294) in healthy controls, and 35.3% (101/286), 45.5% (130/286), and 19.2% (55/286) in OA patients. Frequencies of alleles G and A among healthy controls were 70.7% (416/588) and 29.3% (172/588); whereas those among OA patients were 58.0% (332/572) and 42.0% (240/572). Statistically significant differences in allele and genotype frequencies of rs1256049 were observed between OA patients and controls (P<0.0001). In particular, the risk of OA was significantly increased in carriers with the rs1256049A allele and rs1256049 AA homozygotes.


CONCLUSIONS
These results suggest a close association of rs1256049 ER-β polymorphisms with susceptibility to OA in the Korean population.


CONCLUSIONS
The rs1256049 polymorphism of the estrogen receptor-β gene can potentially be used to identify genetically high-risk subgroup of osteoarthritis in advance and to understand pathogenesis of osteoarthritis.
Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Republic of Korea.
Suk Woo
SW
Lee
Department of Orthopedics, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Republic of Korea.
Joo Hyoun
JH
Song
Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Republic of Korea.
Won Suk
WS
Choi
Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Republic of Korea.
Jung Hwan
JH
Yoon
Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Republic of Korea.
Olga
O
Kim
Department of Biostatistics, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Republic of Korea.
Yong Gyu
YG
Park
Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Republic of Korea.
Suk Woo
SW
Nam
Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Republic of Korea.
Jung Young
JY
Lee
Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Republic of Korea. Electronic address: wonsang@catholic.ac.kr.
Won Sang
WS
Park
D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D020370:Osteoarthritis, Knee / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea / Q000453:epidemiology
D047629:Estrogen Receptor beta
ER-β; Genetic susceptibility; Osteoarthritis; Rsa polymorphism; Single nucleotide polymorphism