TY - JOUR
T1 - Haplotype frequencies and linkage disequilibrium analysis of four frequent polymorphisms at the PTH/PTH-related peptide receptor gene locus
AU - Fröhlich, Leopold F.
AU - Gensure, Robert C.
AU - Schipani, Ernestina
AU - Jüppner, Harald
AU - Bastepe, Murat
N1 - Funding Information:
This work was supported by NIH grants to H.J. (DK-50708-01) and M.B (DK062973-O1A1).
PY - 2004/10
Y1 - 2004/10
N2 - 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.
AB - 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.
KW - Bone metabolism
KW - Bone mineralization
KW - Linkage disequilibrium
KW - PTH/PTH-related peptide receptor
KW - Parathyroid hormone
KW - Single nucleotide polymorphism
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U2 - 10.1016/j.mcp.2004.05.005
DO - 10.1016/j.mcp.2004.05.005
M3 - Article
C2 - 15294324
AN - SCOPUS:4043109915
SN - 0890-8508
VL - 18
SP - 353
EP - 357
JO - Molecular and Cellular Probes
JF - Molecular and Cellular Probes
IS - 5
ER -