Genetic variation in the PTH pathway and bone phenotypes in elderly women: Evaluation of PTH, PTHLH, PTHR1 and PTHR2 genes

Tenne, Max; McGuigan, Fiona; Jansson, Lisa; Gerdhem, Paul; Obrant, Karl; Luthman, Holger; Åkesson, Kristina

doi:10.1016/j.bone.2007.12.005

Cited by 29 publications

(30 citation statements)

References 25 publications

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“…PTH is an important modulator of skeletal regulation and we have shown recently that genetic variation within the PTH locus is associated with fracture through mechanisms/pathways independent of BMD [21]. Furthermore, another study suggests a possible effect of PTH polymorphisms on bone dimensions in middle aged women [36].…”

Section: Discussionmentioning

confidence: 95%

“…Genotyping of the PTH gene as described in detail previously was performed using Taqman allelic discrimination assay (Applied Biosystems, Foster City, CA, USA) [21]. All polymorphisms were amplified according to standard conditions (50°C for 2 min, 10 min at 95°C followed by 40 cycles of 15 seconds at 95°C and 1 min at 60°C).…”

Section: Dna Genotypingmentioning

confidence: 99%

“…Previously we studied several genes within the PTH complex (PTH, PTHrP, PTHR1 and PTHR2) in a cohort of elderly Swedish women and reported an association between haplotypes of PTH and fracture, while no such association was found for the other genes in the pathway [21]. The relationship with fracture was independent of an effect on bone mass.…”

Section: Introductionmentioning

confidence: 96%

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Variation in the PTH Gene, Hip Fracture, and Femoral Neck Geometry in Elderly Women

et al. 2010

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Running title: PTH gene and hip geometry 2(25) ABSTRACT Purpose: Parathyroid hormone (PTH) is a principal regulator of calcium homeostasis.Previously, we studied single nucleotide polymorphisms (SNPs) present in the major genes in the PTH pathway (PTH, PTHrP, PTHR1, PTHR2) in relation to bone mineral density (BMD) and fracture incidence. We found that haplotypes of the PTH gene were associated with fracture risk independent of BMD. In this present study, we evaluated the relationship between PTH haplotypes and femoral neck bone size. Methods:Hip structure analysis (HSA) and BMD of the femoral neck was assessed by DXA in elderly women from the Malmö Osteoporosis Prospective Risk Assessment (OPRA) study.Data on hip fracture, sustained as the result of low trauma after the age of 45 years, was also analysed. Haplotypes derived from six polymorphisms in the PTH locus were analysed in 750 women.

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Section: Discussionmentioning

confidence: 95%

Section: Dna Genotypingmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 96%

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Variation in the PTH Gene, Hip Fracture, and Femoral Neck Geometry in Elderly Women

et al. 2010

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“…The polymorphisms were selected based on information from Ensembl (www.ensembl.org), the details of which have previously been reported in full [18]. In brief, SNPs were selected based on information available at the time (prior to completion of HapMap), according to the criteria: relative position to the gene, minor allele frequency and distance between the SNPs, in order to obtain maximum genetic information content for the most likely functional parts of the genes.…”

Section: Genotypingmentioning

confidence: 99%

“…The samples were genotyped blind with 4.5% of the samples routinely repeated by the same method, with 100% concordance. The SNPs studied were: PTH ((11p15.2) rs307253; rs307247; rs6254; rs1459015; rs10500783 and rs10500784); PTHLH ((12p11.22) rs805512, rs10492364, rs1268693); PTH1R ((3p21.31) rs6442037, rs724449, 7652849); and PTH2R ((2q34) rs9288393, rs10497900, rs897083) [18]. Haplotypes, defined by the six PTH SNPs were determined by indirect haplotyping using the program PHASE v2.02 [19].…”

Section: Genotypingmentioning

confidence: 99%

Variation in the PTH2R gene is associated with age-related degenerative changes in the lumbar spine

et al. 2013

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Variation in the PTH2R gene is associated with age-related degenerative changes in the lumbar spine. Link to publication Citation for published version (APA): Åkesson, K., Tenne, M., Gerdhem, P., Luthman, H., & McGuigan, F. (2015). Variation in the PTH2R gene is associated with age-related degenerative changes in the lumbar spine. Journal of Bone and Mineral Metabolism, 33(1), 9-15. DOI: 10.1007/s00774-013-0550-x General rights Copyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights.• Users may download and print one copy of any publication from the public portal for the purpose of private study or research.• You may not further distribute the material or use it for any profit-making activity or commercial gain • You may freely distribute the URL identifying the publication in the public portal

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Translational Genetics of Osteoporosis: From Population Association to Individualized Prognosis

Tran¹,

Nguyen²

2013

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism

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Genetic variation in the PTH pathway and bone phenotypes in elderly women: Evaluation of PTH, PTHLH, PTHR1 and PTHR2 genes

Cited by 29 publications

References 25 publications

Variation in the PTH Gene, Hip Fracture, and Femoral Neck Geometry in Elderly Women

Variation in the PTH Gene, Hip Fracture, and Femoral Neck Geometry in Elderly Women

Variation in the PTH2R gene is associated with age-related degenerative changes in the lumbar spine

Translational Genetics of Osteoporosis: From Population Association to Individualized Prognosis

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