Haplotype frequencies and linkage disequilibrium analysis of four frequent polymorphisms at the PTH/PTH-related peptide receptor gene locus

Leopold F. Fröhlich, Robert C. Gensure, Ernestina Schipani, Harald Jüppner, Murat Bastepe

Research output: Contribution to journalArticle

2 Scopus citations


The parathyroid hormone (PTH)/PTH-related peptide receptor is a critical component in the control of mineral ion metabolism and in bone development. This receptor is encoded by a single gene (PTHR1) on chromosome 3p21.1-p24.2, and mutations in this gene have been found in several clinical disorders of bone and mineral metabolism. To facilitate future genetic studies of this important gene, we determined haplotype frequencies and performed linkage disequilibrium (LD) analysis of four different polymorphisms at the PTHR1 locus. Combined analysis of Caucasian, African-American and Asian individuals indicated that LD exists between all but one pair of the four polymorphisms. However, the pattern of LD differed substantially among the three subpopulations; for example, LD between two closely spaced (154-bp apart) single nucleotide polymorphisms appeared to be present only in Asians. Depending on the population under study, genetic association studies may need to test even more closely spaced polymorphic markers when screening the PTHR1 locus. These findings may thus affect the design and interpretation of future genetic studies involving PTHR1.

Original languageEnglish (US)
Pages (from-to)353-357
Number of pages5
JournalMolecular and Cellular Probes
Issue number5
Publication statusPublished - Oct 1 2004



  • Bone metabolism
  • Bone mineralization
  • Linkage disequilibrium
  • PTH/PTH-related peptide receptor
  • Parathyroid hormone
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology

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