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Acta Physiologica 2011; Volume 203, Supplement 688
The 62nd National Congress of the Italian Physiological Society
9/25/2011-9/27/2011
Sorrento, Italy
THE ESR2 ALUI GENE POLYMORPHISM IS ASSOCIATED WITH BONE MINERAL DENSITY: IMPLICATIONS FOR BONE PHYSIOLOGY IN POSTMENOPAUSAL WOMEN
Abstract number: P136
ADAMO1 EB, POLITO1 F, CURRO2 M, FERLAZZO2 N, CONDELLO2 S, IENTILE2 R, CACCAMO2 D, MARINI1 H
1Dept of Biochemical, Physiological and Nutritional Sciences, Section of Physiology and Human Nutrition
2Section of Biochemistry and Clinical Biochemistry, Univ. of Messina, A.O.U. Policlinico G. Martino, Messina, Italy
Background:
Common variants in ESR2 gene encoding for ER-beta, highly expressed in bone tissue, have recently been proposed as candidates for affecting bone phenotype at the population level, particularly in postmenopausal women.
Aim:
In this study, we examined the genetic background at ESR2 AluI (rs4986938, 1730G>A) locus in 89 osteopenic, postmenopausal women (age range 4956 years) together with BMD at lumbar spine and femoral neck sites as well as variations in plasma levels of bone metabolism and turnover markers.
Methods and Results:
Genotyping for ESR2 G1730A polymorphism showed that the frequency of A mutated allele accounted for 0.4 in our cohort of postmenopausal women; moreover, the GA1730 heterozygous individuals were the most represented (50.6%) compared with GG (37.8%) and AA homozygous ones (14.6%). A regression analysis showed that lumbar spine BMD values were significantly associated with both ESR2 AA1730 genotype (p=0.044) and time since the onset of menopause (p=0.031), while no significant association was detected between biochemical markers and genetic background. Interestingly, 85% of patients with AA1730 genotype presented the smallest lumbar spine BMD values.
Conclusions:
These findings first indicate a worsening effect of ESR2 AluI polymorphism on lumbar spine BMD reduction in postmenopause, suggesting that the detection of this ESR2 variant should be recommended in postmenopausal women, particularly in populations with a high prevalence of ESR2 AA1730 homozygous genotype.
To cite this abstract, please use the following information:
Acta Physiologica 2011; Volume 203, Supplement 688 :P136