title: Estrogen receptor-alpha gene haplotype is associated with primary knee osteoarthritis in Korean population.
abstract: Estrogen and estrogen receptors (ERs) are known to play important roles in the pathophysiology of osteoarthritis (OA). To investigate ER-alpha 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-alpha gene (intron 1 T/C, intron 1 A/G and exon 8 G/A) and primary knee OA. Genotypes of the ER-alpha 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, chi2 = 21.48; P = 0.003). Although the number OA patients studied is small, the present study shows that ER-alpha gene haplotype may be associated with primary knee OA, and genetic variations in the ER-alpha gene may be involved in OA.
authors.affiliation: Kohwang Medical Research Institute, Department of Pharmacology, College of Medicine, Kyung Hee University, Seoul, Korea. jinsy11@hotmail.com <jinsy11@hotmail.com>
authors.forename: Sheng-Yu
authors.initials: SY
authors.lastname: Jin
authors.forename: Seung-Jae
authors.initials: SJ
authors.lastname: Hong
authors.forename: Hyung In
authors.initials: HI
authors.lastname: Yang
authors.forename: Sang-do
authors.initials: SD
authors.lastname: Park
authors.forename: Myung-Chul
authors.initials: MC
authors.lastname: Yoo
authors.forename: Hee Jae
authors.initials: HJ
authors.lastname: Lee
authors.forename: Mee-Suk
authors.initials: MS
authors.lastname: Hong
authors.forename: Hae-Jeong
authors.initials: HJ
authors.lastname: Park
authors.forename: Seo Hyun
authors.initials: SH
authors.lastname: Yoon
authors.forename: Bum-Shik
authors.initials: BS
authors.lastname: Kim
authors.forename: Sung-Vin
authors.initials: SV
authors.lastname: Yim
authors.forename: Hun-Kuk
authors.initials: HK
authors.lastname: Park
authors.forename: Joo-Ho
authors.initials: JH
authors.lastname: Chung
mesh_terms: D017668:Age of Onset; D000483:Alleles; D016022:Case-Control Studies; D003062:Codon / Q000235:genetics; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D007723:Korea; D008297:Male; D008875:Middle Aged; D017720:Molecular Epidemiology / Q000379:methods; D020370:Osteoarthritis, Knee / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D011110:Polymorphism, Genetic / Q000235:genetics; D011159:Population Surveillance / Q000379:methods; D011859:Radiography; D012306:Risk; D017678:Sex Distribution
chemical_list: D003062:Codon; D047628:Estrogen Receptor alpha