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PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton

Vilarino-Guell, Carles, Miles, Lisa J., Duncan, Emma L., Ralston, Stuart H., Compston, Juliet E., Cooper, Cyrus, Langdahl, Bente L., MacLelland, Alasdair, Pols, Huibert A., Reid, David M., Uitterlinden, Andre G., Steer, Colin D., Tobias, Jon H., Wass, John A. and Brown, Matthew A. (2007) PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton Calcified Tissue International, 81, (4), pp. 270-278. (doi:10.1007/s00223-007-9072-7).

Record type: Article


We investigated whether polymorphisms in PTHR1 are associated with bone mineral density (BMD), to determine whether the association of this gene with BMD was due to effects on attainment of peak bone mass or effects on subsequent bone loss. The PTHR1 gene, including its 14 exons, their exon-intron boundaries, and 1,500 bp of its promoter region, was screened for polymorphisms by denaturing high-performance liquid chromatography (dHPLC) and sequencing in 36 osteoporotic cases. Eleven single-nucleotide polymorphisms (SNPs), one tetranucleotide repeat, and one tetranucleotide deletion were identified. A cohort of 634 families, including 1,236 men (39%) and 1,926 women (61%) ascertained with probands with low BMD (Z5%) and the tetranucleotide repeat. In our osteoporosis families, association was noted between lumbar spine BMD and alleles of a known functional tetranucleotide repeat (U4) in the PTHR1 promoter region (P = 0.042) and between two and three marker haplotypes of PTHR1 polymorphisms with lumbar spine, femoral neck, and total hip BMD (P = 0.021-0.047). This association was restricted to the youngest tertile of the population (age 16-39 years, P = 0.013-0.048). A similar association was found for the ALSPAC cohort: two marker haplotypes of SNPs A48609T and C52813T were associated with height (P = 0.006) and total body less head BMD (P = 0.02), corrected for age and gender, confirming the family findings. These findings suggest a role for PTHR1 variation in determining peak BMD.

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Published date: 2007
Keywords: protein, parents, hip, bone density, alleles, parathyroid hormone, neck, cohort studies, dna primers, gene deletion, single nucleotide, sequence analysis, research, dna, bone and bones, adult, women, type 1, cohort, adolescent, polymerase chain reaction, longitudinal studies, exons, linkage disequilibrium, polymorphism, genetic markers, head, osteoporosis, physiology, height, bone, receptor, introns, haplotypes, genetics, nucleic acid amplification techniques, human, promoter regions (genetics), humans, tandem repeat sequences, bone mass


Local EPrints ID: 61588
ISSN: 0171-967X
PURE UUID: e28a0e43-709a-4d12-a03c-621f44049e7d
ORCID for Cyrus Cooper: ORCID iD

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Date deposited: 10 Sep 2008
Last modified: 17 Jul 2017 14:21

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Author: Carles Vilarino-Guell
Author: Lisa J. Miles
Author: Emma L. Duncan
Author: Stuart H. Ralston
Author: Juliet E. Compston
Author: Cyrus Cooper ORCID iD
Author: Bente L. Langdahl
Author: Alasdair MacLelland
Author: Huibert A. Pols
Author: David M. Reid
Author: Andre G. Uitterlinden
Author: Colin D. Steer
Author: Jon H. Tobias
Author: John A. Wass
Author: Matthew A. Brown

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