Association analysis of the polymorphisms of the VDR gene with bone mineral density and the occurrence of fractures

Associations of the FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor (VDR) gene with the bone mineral density (BMD) of the lumbar part of the spinal column (BMD LS) and the neck of the femur (BMD FN), and with the occurrence of fractures, were studied using the polymerase chain rea...

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Bibliographic Details
Published in:Journal of bone and mineral metabolism 2007-09, Vol.25 (5), p.310-319
Main Authors: HORST-SIKORSKA, Wanda, KALAK, Robert, WAWRZYNIAK, Anna, MARCINKOWSKA, Michalina, CELCZYNSKA-BAJEW, Liliana, SLOMSKI, Ryszard
Format: Article
Language:English
Subjects:
Adult
Aged
Associations
Biological and medical sciences
Bone density
Bone Density - genetics
Bones
Diseases of the osteoarticular system
Female
Fractures, Bone - genetics
Genotype
Haplotypes
Humans
Injuries of the limb. Injuries of the spine
Investigative techniques, diagnostic techniques (general aspects)
Linkage Disequilibrium - genetics
Male
Medical sciences
Middle Aged
Osteoarticular system. Muscles
Osteoporosis. Osteomalacia. Paget disease
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Radiodiagnosis. Nmr imagery. Nmr spectrometry
Receptors, Calcitriol - genetics
Traumas. Diseases due to physical agents
Vitamin D
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Summary:Associations of the FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor (VDR) gene with the bone mineral density (BMD) of the lumbar part of the spinal column (BMD LS) and the neck of the femur (BMD FN), and with the occurrence of fractures, were studied using the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis on DNA isolated from peripheral blood of 239 women and 40 men from the region of western Poland. Three polymorphisms of the 3' end of the VDR gene (BsmI, ApaI, TaqI) indicated a strong linkage disequilibrium. Association analysis of the VDR gene FokI polymorphism with BMD LS showed a dose effect of allele f. The association of the bAT haplotype of the BsmI, ApaI, and TaqI polymorphisms of the VDR gene with BMD FN was statistically significant. The association of the ApaI polymorphism with the occurrence of fractures was observed. Associations were also observed between the occurrence of fractures and the baT haplotypes of the VDR gene.
ISSN:0914-8779
1435-5604
DOI:10.1007/s00774-007-0769-5