TY - JOUR
T1 - JAG1 and COL1A1 polymorphisms and haplotypes in relation to bone mineral density variations in postmenopausal Mexican-Mestizo Women
AU - Rojano-Mejía, David
AU - Coral-Vázquez, Ramón M.
AU - Espinosa, Leticia Cortes
AU - López-Medina, Guillermo
AU - Aguirre-García, María C.
AU - Coronel, Agustín
AU - Canto, Patricia
N1 - Funding Information:
Acknowledgments This work was supported by a grant from the Instituto de Ciencia y Tecnología del Distrito Federal (#PICDS08-34, México). D.R. was supported by Consejo Nacio-nal 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. We thank M. Salas-Rojas (Endocrinology Service, Centro Médico Nacional 20 de Noviembre, Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado) for technical assistance. S. Morey, Executive Editor, Scientific Communications, assisted in the English review of the manuscript.
PY - 2013/4
Y1 - 2013/4
N2 - Osteoporosis is characterized by low bone mineral density (BMD). One of the most important factors that influence BMD is the genetic contribution. The collagen type 1 alpha 1 (COL1A1) and the JAGGED (JAG1) have been investigated in relation to BMD. The aim of this study was to investigate the possible association between two single-nucleotide polymorphisms (SNPs) of COL1A1, their haplotypes, and one SNP of JAG1 with BMD in postmenopausal Mexican-Mestizo women. Seven hundred and fifty unrelated postmenopausal women were included. Risk factors were recorded and BMD was measured in lumbar spine, total hip, and femoral neck by dual-energy X-ray absorptiometry. DNA was obtained from blood leukocytes. Two SNPs in COL1A1 (rs1800012 and rs1107946) and one in JAG1 (rs2273061) 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. Deviations from Hardy-Weinberg equilibrium were tested. Pairwise linkage disequilibrium between single nucleotide polymorphisms was calculated by direct correlation r 2, and haplotype analysis of COL1A1 was conducted. Under a dominant model, the rs1800012 polymorphism of the COL1A1 showed an association with BMD of the lumbar spine (P = 0.021). In addition, analysis of the haplotype of COL1A1 showed that the G-G haplotype presented a higher BMD in lumbar spine. We did not find an association between the s1107946 and rs2273061 polymorphisms of the COL1A1 and JAG1, respectively. Our results suggest that the rs1800012 polymorphism of the COL1A1, in addition to one haplotype, were significantly associated with BMD variation in Mexican-Mestizo postmenopausal women.
AB - Osteoporosis is characterized by low bone mineral density (BMD). One of the most important factors that influence BMD is the genetic contribution. The collagen type 1 alpha 1 (COL1A1) and the JAGGED (JAG1) have been investigated in relation to BMD. The aim of this study was to investigate the possible association between two single-nucleotide polymorphisms (SNPs) of COL1A1, their haplotypes, and one SNP of JAG1 with BMD in postmenopausal Mexican-Mestizo women. Seven hundred and fifty unrelated postmenopausal women were included. Risk factors were recorded and BMD was measured in lumbar spine, total hip, and femoral neck by dual-energy X-ray absorptiometry. DNA was obtained from blood leukocytes. Two SNPs in COL1A1 (rs1800012 and rs1107946) and one in JAG1 (rs2273061) 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. Deviations from Hardy-Weinberg equilibrium were tested. Pairwise linkage disequilibrium between single nucleotide polymorphisms was calculated by direct correlation r 2, and haplotype analysis of COL1A1 was conducted. Under a dominant model, the rs1800012 polymorphism of the COL1A1 showed an association with BMD of the lumbar spine (P = 0.021). In addition, analysis of the haplotype of COL1A1 showed that the G-G haplotype presented a higher BMD in lumbar spine. We did not find an association between the s1107946 and rs2273061 polymorphisms of the COL1A1 and JAG1, respectively. Our results suggest that the rs1800012 polymorphism of the COL1A1, in addition to one haplotype, were significantly associated with BMD variation in Mexican-Mestizo postmenopausal women.
KW - Bone mineral density
KW - COL1A1
KW - Haplotypes
KW - JAG1
KW - Polymorphisms
KW - Postmenopausal Mexican-Mestizo women
UR - http://www.scopus.com/inward/record.url?scp=84880532193&partnerID=8YFLogxK
U2 - 10.1007/s11357-011-9363-9
DO - 10.1007/s11357-011-9363-9
M3 - Artículo
C2 - 22174012
SN - 0161-9152
VL - 35
SP - 471
EP - 478
JO - Age
JF - Age
IS - 2
ER -