Abstract
Purpose: This study evaluated the association between polymorphisms in the estrogen receptor (ER) alpha gene (ESR1) and prevalent and incident radiographic hip osteoarthritis (RHOA) in a large, well-defined prospective cohort of elderly Caucasian women. Methods: Prevalent and incident RHOA was evaluated from all available pelvis X-rays obtained from the Study of Osteoporotic Fractures at baseline and after a mean of 8.3 years. Evaluable DNA samples were available from 4746 of these subjects. RHOA cases were defined by published methods. The ESR1 polymorphisms at intron I (Pvu II for a T/C substitution and Xba I for an A/G substitution) were genotyped in the context of a multiplex polymerase chain reaction (PCR) amplification followed by allele-specific single nucleotide polymorphism (SNP) detection with immobilized oligonucleotide probes in linear arrays. Multiple logistic regression was performed to estimate odds ratios (ORs) and 95% confidence intervals (95% CI) associated with the T/C and A/G polymorphisms. Results: RHOA was present in 12.1% of subjects, of whom 325 had joint space narrowing (JSN) score ≥3 and 130 had an osteophyte score ≥2 and JSN score ≥2. There was a significant reduction in the odds of prevalent RHOA for individuals with the C/C compared to T/T genotype at the Pvu II site with an OR of 0.71 (95% CI: 0.55-0.92) (P = 0.01). Adjustments for age, weight, height, hip Bone mineral density (BMD) and estrogen use did not alter the relationship between the C/C genotype and reduced risk of RHOA, with an OR of 0.71 (95% CI: 0.54-0.94) (P = 0.01). The risk of incident RHOA was reduced for the Pvu II C/C compared to the T/T genotype (P = 0.11). Also, the reduced risk of incident RHOA in C/C subjects varied by estrogen use. There was no association between the Xba I G/G or G/A genotypes and RHOA with OR of 0.82 (95% CI: 0.61-1.10) (P = 0.19) compared to women with A/A genotype. Conclusions: We conclude that the C/C genotype of the ER alpha Pvu II polymorphism was associated with a modestly reduced risk of prevalent and incident RHOA in elderly Caucasian women. Additional work is required to understand how the intron I ESR1 polymorphism may alter joint degeneration.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 972-978 |
| Number of pages | 7 |
| Journal | Osteoarthritis and Cartilage |
| Volume | 15 |
| Issue number | 8 |
| DOIs | |
| State | Published - Aug 2007 |
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Keywords
- Estrogen receptors
- Osteoarthritis
- Polymorphisms
ASJC Scopus subject areas
- Orthopedics and Sports Medicine
Cite this
Estrogen receptor alpha genotype is associated with a reduced prevalence of radiographic hip osteoarthritis in elderly Caucasian women. / Lian, K.; Lui, L.; Zmuda, J. M.; Nevitt, M. C.; Hochberg, M. C.; Lee, J. M.; Li, J.; Lane, Nancy E.
In: Osteoarthritis and Cartilage, Vol. 15, No. 8, 08.2007, p. 972-978.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Estrogen receptor alpha genotype is associated with a reduced prevalence of radiographic hip osteoarthritis in elderly Caucasian women
AU - Lian, K.
AU - Lui, L.
AU - Zmuda, J. M.
AU - Nevitt, M. C.
AU - Hochberg, M. C.
AU - Lee, J. M.
AU - Li, J.
AU - Lane, Nancy E
PY - 2007/8
Y1 - 2007/8
N2 - Purpose: This study evaluated the association between polymorphisms in the estrogen receptor (ER) alpha gene (ESR1) and prevalent and incident radiographic hip osteoarthritis (RHOA) in a large, well-defined prospective cohort of elderly Caucasian women. Methods: Prevalent and incident RHOA was evaluated from all available pelvis X-rays obtained from the Study of Osteoporotic Fractures at baseline and after a mean of 8.3 years. Evaluable DNA samples were available from 4746 of these subjects. RHOA cases were defined by published methods. The ESR1 polymorphisms at intron I (Pvu II for a T/C substitution and Xba I for an A/G substitution) were genotyped in the context of a multiplex polymerase chain reaction (PCR) amplification followed by allele-specific single nucleotide polymorphism (SNP) detection with immobilized oligonucleotide probes in linear arrays. Multiple logistic regression was performed to estimate odds ratios (ORs) and 95% confidence intervals (95% CI) associated with the T/C and A/G polymorphisms. Results: RHOA was present in 12.1% of subjects, of whom 325 had joint space narrowing (JSN) score ≥3 and 130 had an osteophyte score ≥2 and JSN score ≥2. There was a significant reduction in the odds of prevalent RHOA for individuals with the C/C compared to T/T genotype at the Pvu II site with an OR of 0.71 (95% CI: 0.55-0.92) (P = 0.01). Adjustments for age, weight, height, hip Bone mineral density (BMD) and estrogen use did not alter the relationship between the C/C genotype and reduced risk of RHOA, with an OR of 0.71 (95% CI: 0.54-0.94) (P = 0.01). The risk of incident RHOA was reduced for the Pvu II C/C compared to the T/T genotype (P = 0.11). Also, the reduced risk of incident RHOA in C/C subjects varied by estrogen use. There was no association between the Xba I G/G or G/A genotypes and RHOA with OR of 0.82 (95% CI: 0.61-1.10) (P = 0.19) compared to women with A/A genotype. Conclusions: We conclude that the C/C genotype of the ER alpha Pvu II polymorphism was associated with a modestly reduced risk of prevalent and incident RHOA in elderly Caucasian women. Additional work is required to understand how the intron I ESR1 polymorphism may alter joint degeneration.
AB - Purpose: This study evaluated the association between polymorphisms in the estrogen receptor (ER) alpha gene (ESR1) and prevalent and incident radiographic hip osteoarthritis (RHOA) in a large, well-defined prospective cohort of elderly Caucasian women. Methods: Prevalent and incident RHOA was evaluated from all available pelvis X-rays obtained from the Study of Osteoporotic Fractures at baseline and after a mean of 8.3 years. Evaluable DNA samples were available from 4746 of these subjects. RHOA cases were defined by published methods. The ESR1 polymorphisms at intron I (Pvu II for a T/C substitution and Xba I for an A/G substitution) were genotyped in the context of a multiplex polymerase chain reaction (PCR) amplification followed by allele-specific single nucleotide polymorphism (SNP) detection with immobilized oligonucleotide probes in linear arrays. Multiple logistic regression was performed to estimate odds ratios (ORs) and 95% confidence intervals (95% CI) associated with the T/C and A/G polymorphisms. Results: RHOA was present in 12.1% of subjects, of whom 325 had joint space narrowing (JSN) score ≥3 and 130 had an osteophyte score ≥2 and JSN score ≥2. There was a significant reduction in the odds of prevalent RHOA for individuals with the C/C compared to T/T genotype at the Pvu II site with an OR of 0.71 (95% CI: 0.55-0.92) (P = 0.01). Adjustments for age, weight, height, hip Bone mineral density (BMD) and estrogen use did not alter the relationship between the C/C genotype and reduced risk of RHOA, with an OR of 0.71 (95% CI: 0.54-0.94) (P = 0.01). The risk of incident RHOA was reduced for the Pvu II C/C compared to the T/T genotype (P = 0.11). Also, the reduced risk of incident RHOA in C/C subjects varied by estrogen use. There was no association between the Xba I G/G or G/A genotypes and RHOA with OR of 0.82 (95% CI: 0.61-1.10) (P = 0.19) compared to women with A/A genotype. Conclusions: We conclude that the C/C genotype of the ER alpha Pvu II polymorphism was associated with a modestly reduced risk of prevalent and incident RHOA in elderly Caucasian women. Additional work is required to understand how the intron I ESR1 polymorphism may alter joint degeneration.
KW - Estrogen receptors
KW - Osteoarthritis
KW - Polymorphisms
UR - http://www.scopus.com/inward/record.url?scp=34547676850&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34547676850&partnerID=8YFLogxK
U2 - 10.1016/j.joca.2007.02.020
DO - 10.1016/j.joca.2007.02.020
M3 - Article
VL - 15
SP - 972
EP - 978
JO - Osteoarthritis and Cartilage
JF - Osteoarthritis and Cartilage
SN - 1063-4584
IS - 8
ER -