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VDR polymorphisms are associated with bone mineral density in post-menopausal Mayan-Mestizo women
Authors:Thelma Canto-Cetina  José Antonio Cetina Manzanilla  Lizbeth González Herrera  David Rojano-Mejía  Ramón Mauricio Coral-Vázquez  Agustín Coronel
Institution:1. Laboratorio de Biología de la Reproducción, Centro de Investigaciones Regionales ‘Dr. Hideyo Noguchi’, Mérida Yucatán, México, tcetina@uady.mx;3. Hospital Star Médica, Mérida Yucatán, México,;4. Laboratorio de Genética, Centro de Investigaciones Regionales ‘Dr. Hideyo Noguchi’, Mérida Yucatán, México,;5. Unidad de Medicina Física y Rehabilitación, Región Centro, UMAE Lomas Verdes, Instituto Mexicano del Seguro Social, México, D.F., México,;6. Sección de Estudios de Posgrado e Investigación, Escuela Superior de Medicina, Instituto Politécnico Nacional, México, D.F., Mexico,;7. Subdirección de Ense?anza e Investigación, Centro Médico Nacional ‘20 de Noviembre’, Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, México, D.F., México,;8. División de Investigación Biomédica, Subdirección de Ense?anza e Investigación, Centro Médico Nacional ‘20 de Noviembre’, Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, México, D.F., México, and
Abstract:Background: Osteoporosis is characterized by low bone mineral density (BMD), which is determined by an interaction of genetic, metabolic and environmental factors.

Aim: To analyse the association between two polymorphisms of VDR as well as their haplotypes with BMD in post-menopausal Maya-Mestizo women.

Subjects and methods: This study comprised 600 post-menopausal Maya-Mestizo women. A structured questionnaire for risk factors was applied and BMD was assessed at the lumbar spine (LS) and total hip (TH) by dual-energy X-ray absorptiometry. DNA was extracted from blood leukocytes. Two single-nucleotide polymorphisms of VDR (rs731236 and rs2228570) were studied using real-time PCR allelic discrimination for genotyping. Differences between the means of the BMDs according to the genotype were analysed with covariance. Haplotype analysis was conducted.

Results: TT genotype of rs731236 of VDR had higher BMD at total hip and femoral neck (FN), and one haplotype formed by the two polymorphisms was associated with only TH-BMD variations. This difference was statistically significant after adjustment for confounders. The genotype of rs2228570 of VDR analysis showed no significant differences with BMD variations.

Conclusion: The results showed that the TT genotype of rs731236 of VDR and one haplotype formed by rs731236 and rs2228570 polymorphisms were associated with higher BMD at TH and FN.

Keywords:BMD  haplotypes  polymorphisms  post-menopausal Maya-Mestizo women  VDR
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