TY - JOUR
T1 - Relation of the estrogen receptor and vitamin D receptor polymorphisms with bone mineral density in postmenopausal Mexican-mestizo women
AU - Rojano-Mejía, David
AU - Coral-Vázquez, Ramón Mauricio
AU - Coronel, Agustín
AU - Cortes-Espinosa, Leticia
AU - del Carmen Aguirre-García, María
AU - Valencia-Villalvazo, Elith Yazmin
AU - Canto, Patricia
N1 - Funding Information:
Rojano D. was supported by Consejo Nacional de Ciencia y Tecnología (CONACYT) and by a fellowship award from the Coordinación de Investigación en Salud, Instituto Mexicano del Seguro Social . G.L. was supported by a fellowship award from the Instituto de Ciencia y Tecnología del Distrito Federal .
Funding Information:
This work was supported by a grant from the Instituto de Ciencia y Tecnología del Distrito Federal (# PICDS08-34 , Mexico).
PY - 2014/3/1
Y1 - 2014/3/1
N2 - Background: Since osteoporosis is a complex disease characterized by low bone mineral density (BMD), which is determined by an interaction of genetics with metabolic and environmental factors, the aim of this study was to analyze the possible association among one polymorphism of VDR and two polymorphisms of ESR1; as well as their haplotypes with BMD in postmenopausal Mexican-mestizo women. Methods: We studied 742 postmenopausal Mexican-mestizo women. A structured questionnaire for risk factors was applied and BMD was measured in the lumbar spine and total hip by dual-energy X-ray absorptiometry. DNA was obtained from blood leukocytes. One polymorphism of VDR (rs11568820) and two of ESR1 (rs2234693 and rs9340799) were studied. Real-time PCR allelic discrimination was used for genotyping. The differences between the means of the BMDs according to genotype were analyzed with covariance. Hardy-Weinberg equilibrium was tested. Pairwise linkage disequilibrium between single nucleotide polymorphisms was calculated by direct correlation r2; haplotype analysis was conducted. Results: Rs9340799 of ESR1 and one haplotype formed by the two polymorphisms of the ESR1 were significantly associated with FN-BMD variations. Moreover, analysis of the genotype of rs11568820 of VDR and the rs2234693 of ESR1 showed no significant differences with BMD variations. Conclusions: Our results showed that rs9340799 and one haplotype of ESR1 were significantly associated with BMD only at the femoral neck and this association remained after adjusting for covariates.
AB - Background: Since osteoporosis is a complex disease characterized by low bone mineral density (BMD), which is determined by an interaction of genetics with metabolic and environmental factors, the aim of this study was to analyze the possible association among one polymorphism of VDR and two polymorphisms of ESR1; as well as their haplotypes with BMD in postmenopausal Mexican-mestizo women. Methods: We studied 742 postmenopausal Mexican-mestizo women. A structured questionnaire for risk factors was applied and BMD was measured in the lumbar spine and total hip by dual-energy X-ray absorptiometry. DNA was obtained from blood leukocytes. One polymorphism of VDR (rs11568820) and two of ESR1 (rs2234693 and rs9340799) were studied. Real-time PCR allelic discrimination was used for genotyping. The differences between the means of the BMDs according to genotype were analyzed with covariance. Hardy-Weinberg equilibrium was tested. Pairwise linkage disequilibrium between single nucleotide polymorphisms was calculated by direct correlation r2; haplotype analysis was conducted. Results: Rs9340799 of ESR1 and one haplotype formed by the two polymorphisms of the ESR1 were significantly associated with FN-BMD variations. Moreover, analysis of the genotype of rs11568820 of VDR and the rs2234693 of ESR1 showed no significant differences with BMD variations. Conclusions: Our results showed that rs9340799 and one haplotype of ESR1 were significantly associated with BMD only at the femoral neck and this association remained after adjusting for covariates.
KW - BMD
KW - ESR1
KW - Haplotypes
KW - Polymorphisms
KW - Postmenopausal Mexican mestizo women
KW - VDR
UR - http://www.scopus.com/inward/record.url?scp=84892886088&partnerID=8YFLogxK
U2 - 10.1016/j.gene.2013.12.054
DO - 10.1016/j.gene.2013.12.054
M3 - Artículo
C2 - 24389498
SN - 0378-1119
VL - 537
SP - 10
EP - 14
JO - Gene
JF - Gene
IS - 1
ER -