Association of a G2014A Transition in Exon 8 of the Estrogen Receptor-? Gene with Postmenopausal Osteoporosis
| Autor: | Boonsong Ongphiphadhanakul, Sunee Saetung, Noppawan Piaseu, Penpan Payattikul, La-or Chailurkit, R. Rajatanavin, Suwannee Chanprasertyothin |
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| Rok vydání: | 2001 |
| Předmět: |
medicine.medical_specialty
Genotype Endocrinology Diabetes and Metabolism Osteoporosis Estrogen receptor Single-nucleotide polymorphism Polymorphism Single Nucleotide Exon Bone Density Internal medicine Humans Medicine Genetic Predisposition to Disease Allele frequency Osteoporosis Postmenopausal Aged Estradiol Femur Neck business.industry Estrogen Receptor alpha Exons Odds ratio Middle Aged medicine.disease Menopause Logistic Models Endocrinology Receptors Estrogen Female business |
| Zdroj: | Osteoporosis International. 12:1015-1019 |
| ISSN: | 1433-2965 0937-941X |
| DOI: | 10.1007/s001980170010 |
| Popis: | 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%) (p0.05). 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 (p0.05), endogenous estradiol levels (p0.05) and the G2014A genotype (p0.001), while it was related only to body weight (p0.05) and estradiol levels in non-osteoporotic women (p0.05). 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. |
| Databáze: | OpenAIRE |
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