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Logo of arthrestherBioMed Centralbiomed central web sitesearchsubmit a manuscriptregisterthis articleArthritis Research & Therapy
Arthritis Res Ther. 2004; 6(5): R415–R421.
Published online Jul 19, 2004. doi:  10.1186/ar1207
PMCID: PMC546279
Estrogen receptor-α gene haplotype is associated with primary knee osteoarthritis in Korean population
Sheng-Yu Jin,#1 Seung-Jae Hong,#2 Hyung In Yang,3 Sang-do Park,3 Myung-Chul Yoo,4 Hee Jae Lee,1 Mee-Suk Hong,1 Hae-Jeong Park,1 Seo Hyun Yoon,1 Bum-Shik Kim,1 Sung-Vin Yim,1 Hun-Kuk Park,1 and Joo-Ho Chungcorresponding author1
1Kohwang Medical Research Institute, Department of Pharmacology, College of Medicine, Kyung Hee University, Seoul, Korea
2Department of Internal Medicine, College of Medicine, Pochon CHA University, Sungnam, Korea
3Division of Rheumatology, Department of Internal Medicine, College of Medicine, Kyung Hee University, Seoul, Korea
4Department of Orthopedic Surgery, College of Medicine, Kyung Hee University, Seoul, Korea
corresponding authorCorresponding author.
#Contributed equally.
Sheng-Yu Jin: jinsy11/at/; Seung-Jae Hong: hsj718/at/; Hyung In Yang: yhira/at/; Sang-do Park: kanikos/at/; Myung-Chul Yoo: mcyookuh/at/; Hee Jae Lee: poohlee/at/; Mee-Suk Hong: msbona21/at/; Hae-Jeong Park: hjpark17/at/; Seo Hyun Yoon: ena0512/at/; Bum-Shik Kim: kimbs95/at/; Sung-Vin Yim: ysvin/at/; Hun-Kuk Park: sigmoidus/at/; Joo-Ho Chung: jhchung/at/
Received February 19, 2004; Revisions requested April 5, 2004; Revised May 26, 2004; Accepted June 8, 2004.
Estrogen and estrogen receptors (ERs) are known to play important roles in the pathophysiology of osteoarthritis (OA). To investigate ER-α gene polymorphisms for its associations with primary knee OA, we conducted a case–control association study in patients with primary knee OA (n = 151) and healthy individuals (n = 397) in the Korean population. Haplotyping analysis was used to determine the relationship between three polymorphisms in the ER-α gene (intron 1 T/C, intron 1 A/G and exon 8 G/A) and primary knee OA. Genotypes of the ER-α gene polymorphism were determined by PCR followed by restriction enzyme digestion (PvuII for intron 1 T/C, XbaI for intron 1 A/G, and BtgI for exon 8 G/A polymorphism). There was no significant difference between primary knee OA patients and healthy control individuals in the distribution of any of the genotypes evaluated. However, we found that the allele frequency for the exon 8 G/A BtgI polymorphism (codon 594) was significantly different between primary knee OA patients and control individuals (odds ratio = 1.38, 95% confidence interval = 1.01–1.88; P = 0.044). In haplotype frequency estimation analysis, there was a significant difference between primary knee OA patients and control individuals (degrees of freedom = 7, χ2 = 21.48; P = 0.003). Although the number OA patients studied is small, the present study shows that ER-α gene haplotype may be associated with primary knee OA, and genetic variations in the ER-α gene may be involved in OA.
Keywords: estrogen receptor, haplotype, knee osteoarthritis, polymorphism
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