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Estrogen receptor-α 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-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 health...

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Autores principales: Jin, Sheng-Yu, Hong, Seung-Jae, In Yang, Hyung, Park, Sang-do, Yoo, Myung-Chul, Lee, Hee Jae, Hong, Mee-Suk, Park, Hae-Jeong, Yoon, Seo Hyun, Kim, Bum-Shik, Yim, Sung-Vin, Park, Hun-Kuk, Chung, Joo-Ho
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2004
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC546279/
https://www.ncbi.nlm.nih.gov/pubmed/15380041
http://dx.doi.org/10.1186/ar1207
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author Jin, Sheng-Yu
Hong, Seung-Jae
In Yang, Hyung
Park, Sang-do
Yoo, Myung-Chul
Lee, Hee Jae
Hong, Mee-Suk
Park, Hae-Jeong
Yoon, Seo Hyun
Kim, Bum-Shik
Yim, Sung-Vin
Park, Hun-Kuk
Chung, Joo-Ho
author_facet Jin, Sheng-Yu
Hong, Seung-Jae
In Yang, Hyung
Park, Sang-do
Yoo, Myung-Chul
Lee, Hee Jae
Hong, Mee-Suk
Park, Hae-Jeong
Yoon, Seo Hyun
Kim, Bum-Shik
Yim, Sung-Vin
Park, Hun-Kuk
Chung, Joo-Ho
author_sort Jin, Sheng-Yu
collection PubMed
description 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, χ(2 )= 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.
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spelling pubmed-5462792005-02-01 Estrogen receptor-α gene haplotype is associated with primary knee osteoarthritis in Korean population Jin, Sheng-Yu Hong, Seung-Jae In Yang, Hyung Park, Sang-do Yoo, Myung-Chul Lee, Hee Jae Hong, Mee-Suk Park, Hae-Jeong Yoon, Seo Hyun Kim, Bum-Shik Yim, Sung-Vin Park, Hun-Kuk Chung, Joo-Ho Arthritis Res Ther Research Article 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, χ(2 )= 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. BioMed Central 2004 2004-07-19 /pmc/articles/PMC546279/ /pubmed/15380041 http://dx.doi.org/10.1186/ar1207 Text en Copyright © 2004 Jin et al.; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.
spellingShingle Research Article
Jin, Sheng-Yu
Hong, Seung-Jae
In Yang, Hyung
Park, Sang-do
Yoo, Myung-Chul
Lee, Hee Jae
Hong, Mee-Suk
Park, Hae-Jeong
Yoon, Seo Hyun
Kim, Bum-Shik
Yim, Sung-Vin
Park, Hun-Kuk
Chung, Joo-Ho
Estrogen receptor-α gene haplotype is associated with primary knee osteoarthritis in Korean population
title Estrogen receptor-α gene haplotype is associated with primary knee osteoarthritis in Korean population
title_full Estrogen receptor-α gene haplotype is associated with primary knee osteoarthritis in Korean population
title_fullStr Estrogen receptor-α gene haplotype is associated with primary knee osteoarthritis in Korean population
title_full_unstemmed Estrogen receptor-α gene haplotype is associated with primary knee osteoarthritis in Korean population
title_short Estrogen receptor-α gene haplotype is associated with primary knee osteoarthritis in Korean population
title_sort estrogen receptor-α gene haplotype is associated with primary knee osteoarthritis in korean population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC546279/
https://www.ncbi.nlm.nih.gov/pubmed/15380041
http://dx.doi.org/10.1186/ar1207
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