Tests of linkage and association of PTH/PTHrP receptor type 1 gene with bone mineral density and height in Caucasians.

Zhang YY, Liu PY, Lu Y, Xiao P, Liu YJ, Long JR, Shen H, Zhao LJ, Elze L, Recker RR, Deng HW
J Bone Miner Metab. 2006 24 (1): 36-41

PMID: 16369896 · DOI:10.1007/s00774-005-0643-2

Parathyroid hormone/parathyroid hormone-related peptide receptor type 1 (PTHR1) plays an important role in calcium metabolism. It was previously shown to influence variation in bone mineral density (BMD). To investigate its importance in a typical U.S. Caucasian population, we tested linkage or association of the PTHR1 gene with BMD and height. Altogether, 1873 subjects from 405 Caucasian nuclear families were studied. BMD was measured at the lumbar spine (L1-L4) and total hip (femoral neck, trochanter, and intertrochanter regions). Four single nucleotide polymorphisms (SNPs) in the PTHR1 gene were genotyped. Sixteen haplotypes were reconstructed. Only two major haplotypes had frequencies >3% and were thus used for the analysis. Analyses were performed for BMD and height in the total sample and for peak BMD (PBMD) achieved in offspring subjects aged 20-50 in a subsample of 387 nuclear families. We found suggestive evidence for total association between haplotype 13 (AATG) and hip PBMD (P = 0.031). For height, evidence of within-family association was suggested for SNP1, SNP2, and haplotype 4 (GGCA) (P < or = 0.05). Our findings suggest that the PTHR1 gene may be important for PBMD, height variation, or both, although the significance is dampened by correction for multiple testing.

MeSH Terms (16)

Absorptiometry, Photon Adult Body Height Bone Density European Continental Ancestry Group Female Gene Frequency Genetic Linkage Genotype Haplotypes Humans Male Osteoporosis Polymorphism, Single Nucleotide Receptor, Parathyroid Hormone, Type 1 Spine

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