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Here, we confirm LBX1 as a susceptibility gene for idiopathic scoliosis in a Scandinavian population and report that we are unable to find evidence of other genes of similar or stronger effect.

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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

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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