Source:http://linkedlifedata.com/resource/pubmed/id/11846326
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
12
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pubmed:dateCreated |
2002-2-15
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pubmed:abstractText |
We report the association of a newly identified synonymous G2014A single nucleotide polymorphism (SNP) which does not alter the amino acid sequence in exon 8 of the estrogen receptor-alpha (ERalpha) gene with osteoporosis in Thai postmenopausal women. Subjects consisted of 228 postmenopausal women aged more than 55 years divided into two groups--with vertebral or femoral osteoporosis (n = 106) or without osteoporosis (n = 122)--according to bone mineral density (BMD) criteria. The exon 8 G2014A SNP, which is 6 nucleotides upstream from the end of the stop codon, was identified by PCR-RFLP. Data are expressed as the mean and 95% CI. The allele frequency of the G2014A polymorphism was 26.4% in osteoporotic subjects and was significantly higher than that in non-osteoporotic women (15.2%) (p<0.05). By stepwise logistic regression analysis, it was found that the G2014A polymorphism was related to the presence of osteoporosis (odds ratio 2.7 per A allele, 95% CI 1.49-4.76) independently of body weight (odds ratio 0.93 per kg, 95% CI 0.89-0.96) and years since menopause (odds ratio 1.12 per year, 95% CI 1.08-1.19). In a multiple linear regression model, L2-L4 BMD of osteoporotic subjects was associated with body weight (p<0.05), endogenous estradiol levels (p<0.05) and the G2014A genotype (p<0.001), while it was related only to body weight (p<0.05) and estradiol levels in non-osteoporotic women (p<0.05). We conclude that a G2014A SNP in exon 8 of ERalpha is associated with the presence and severity of postmenopausal osteoporosis. Linkage disequilibrium between this polymorphism and the 3'-untranslated region of the ERalpha gene which may participate in the regulation of ERalpha gene expression remains to be determined.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0937-941X
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
12
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1015-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11846326-Aged,
pubmed-meshheading:11846326-Bone Density,
pubmed-meshheading:11846326-Estradiol,
pubmed-meshheading:11846326-Estrogen Receptor alpha,
pubmed-meshheading:11846326-Exons,
pubmed-meshheading:11846326-Female,
pubmed-meshheading:11846326-Femur Neck,
pubmed-meshheading:11846326-Genetic Predisposition to Disease,
pubmed-meshheading:11846326-Genotype,
pubmed-meshheading:11846326-Humans,
pubmed-meshheading:11846326-Logistic Models,
pubmed-meshheading:11846326-Middle Aged,
pubmed-meshheading:11846326-Osteoporosis, Postmenopausal,
pubmed-meshheading:11846326-Polymorphism, Single Nucleotide,
pubmed-meshheading:11846326-Receptors, Estrogen
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pubmed:year |
2001
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pubmed:articleTitle |
Association of a G2014A transition in exon 8 of the estrogen receptor-alpha gene with postmenopausal osteoporosis.
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pubmed:affiliation |
Department of Medicine and Research Center, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. rabpk@mahidol.ac.th
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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