Association of a G2014A Transition in Exon 8 of the Estrogen Receptor-? Gene with Postmenopausal Osteoporosis

We report the association of a newly identified synonymous G2014A single nucleotide polymorphism which does not alter the amino acid sequence in exon 8 of the estrogen receptor-α gene with osteoporosis in Thai postmenopausal women

B. Ongphiphadhanakul

2002

Scholarcy highlights

  • We report the association of a newly identified synonymous G2014A single nucleotide polymorphism which does not alter the amino acid sequence in exon 8 of the estrogen receptor-α 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 or without osteoporosis – according to bone mineral density criteria
  • By stepwise logistic regression analysis, it was found that the G2014A polymorphism was related to the presence of osteoporosis independently of body weight and years since menopause
  • In a multiple linear regression model, L2–L4 BMD of osteoporotic subjects was associated with body weight, endogenous estradiol levels and the G2014A genotype, while it was related only to body weight and estradiol levels in non-osteoporotic women
  • 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 estrogen receptor-α gene which may participate in the regulation of ERα gene expression remains to be determined

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