Estrogen receptor-alpha gene haplotype is associated with primary knee osteoarthritis in Korean population.
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.
Jin
Sheng-Yu
SY
Kohwang Medical Research Institute, Department of Pharmacology, College of Medicine, Kyung Hee University, Seoul, Korea. jinsy11@hotmail.com <jinsy11@hotmail.com>
Hong
Seung-Jae
SJ
Yang
Hyung In
HI
Park
Sang-do
SD
Yoo
Myung-Chul
MC
Lee
Hee Jae
HJ
Hong
Mee-Suk
MS
Park
Hae-Jeong
HJ
Yoon
Seo Hyun
SH
Kim
Bum-Shik
BS
Yim
Sung-Vin
SV
Park
Hun-Kuk
HK
Chung
Joo-Ho
JH
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
D003062:Codon; D047628:Estrogen Receptor alpha