Association of a G2014A transition in exon 8 of the estrogen receptor-α gene with postmenopausal osteoporosis

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-α (ERα) gene with osteoporosis in Thai postmenopausal women. Subjects consisted of 228 postmenopausal women aged more...

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Main Authors: B. Ongphiphadhanakul, S. Chanprasertyothin, P. Payattikul, S. Saetung, N. Piaseu, L. Chailurkit, R. Rajatanavin
Other Authors: Mahidol University
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Published: 2018
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Online Access:https://repository.li.mahidol.ac.th/handle/123456789/26646
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spelling th-mahidol.266462018-09-07T16:44:15Z Association of a G2014A transition in exon 8 of the estrogen receptor-α gene with postmenopausal osteoporosis B. Ongphiphadhanakul S. Chanprasertyothin P. Payattikul S. Saetung N. Piaseu L. Chailurkit R. Rajatanavin Mahidol University Medicine 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-α (ERα) 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 ERα is associated with the presence and severity of postmenopausal osteoporosis. Linkage disequilibrium between this polymorphism and the 3′-untranslated region of the ERα gene which may participate in the regulation of ERα gene expression remains to be determined. 2018-09-07T09:44:15Z 2018-09-07T09:44:15Z 2001-12-01 Article Osteoporosis International. Vol.12, No.12 (2001), 1015-1019 10.1007/s001980170010 0937941X 2-s2.0-0035702730 https://repository.li.mahidol.ac.th/handle/123456789/26646 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0035702730&origin=inward
institution Mahidol University
building Mahidol University Library
continent Asia
country Thailand
Thailand
content_provider Mahidol University Library
collection Mahidol University Institutional Repository
topic Medicine
spellingShingle Medicine
B. Ongphiphadhanakul
S. Chanprasertyothin
P. Payattikul
S. Saetung
N. Piaseu
L. Chailurkit
R. Rajatanavin
Association of a G2014A transition in exon 8 of the estrogen receptor-α gene with postmenopausal osteoporosis
description 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-α (ERα) 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 ERα is associated with the presence and severity of postmenopausal osteoporosis. Linkage disequilibrium between this polymorphism and the 3′-untranslated region of the ERα gene which may participate in the regulation of ERα gene expression remains to be determined.
author2 Mahidol University
author_facet Mahidol University
B. Ongphiphadhanakul
S. Chanprasertyothin
P. Payattikul
S. Saetung
N. Piaseu
L. Chailurkit
R. Rajatanavin
format Article
author B. Ongphiphadhanakul
S. Chanprasertyothin
P. Payattikul
S. Saetung
N. Piaseu
L. Chailurkit
R. Rajatanavin
author_sort B. Ongphiphadhanakul
title Association of a G2014A transition in exon 8 of the estrogen receptor-α gene with postmenopausal osteoporosis
title_short Association of a G2014A transition in exon 8 of the estrogen receptor-α gene with postmenopausal osteoporosis
title_full Association of a G2014A transition in exon 8 of the estrogen receptor-α gene with postmenopausal osteoporosis
title_fullStr Association of a G2014A transition in exon 8 of the estrogen receptor-α gene with postmenopausal osteoporosis
title_full_unstemmed Association of a G2014A transition in exon 8 of the estrogen receptor-α gene with postmenopausal osteoporosis
title_sort association of a g2014a transition in exon 8 of the estrogen receptor-α gene with postmenopausal osteoporosis
publishDate 2018
url https://repository.li.mahidol.ac.th/handle/123456789/26646
_version_ 1763489647597453312