A functional polymorphism in the PTHR1 promoter region is associated with adult height and BMD measured at the femoral neck in a large cohort of young caucasian women

Human Genetics
Alfredo ScillitaniDavid E C Cole

Abstract

The parathyroid hormone type 1 receptor (PTHR1) mediates the actions of parathyroid hormone (PTH) and parathyroid hormone-related protein (PTHRP). Interacting with this receptor, PTHRP contributes to skeletal development through the regulation of chondrocyte proliferation and differentiation. Recently, a tetranucleotide repeat-(AAAG)( n )-in the P3 promoter of the PTHR1 gene has been shown to have functional activity in vitro, and homozygosity for (AAAG)(6), or the 6/6 genotype, has been associated with greater adult height compared to the 5/5 genotype. In this study, we evaluated the association of (AAAG)( n ) with height and bone mineral density (BMD) measured at lumbar spine (LS) and femoral neck (FN) in a cohort of 677 young caucasian women 18-35 years of age. Genomic DNA was amplified and genotyped by comparison with sequenced controls following electrophoretic separation through high-resolution polyacrylamide gels. Allele frequencies for (AAAG)( n ) were: 76.8% (n=5); 20.9% (n=6); 1.8% (n=7); 0.18% (n=8); 0.27% (n=9); 0.08% (n=2), and there was no evidence for Hardy-Weinberg disequilibrium. Analysis of variance showed that subjects bearing one or two (AAAG)(6) alleles (6/X & 6/6) were significantly taller (165.7+/-0.5 cm)...Continue Reading

References

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Citations

Apr 18, 2008·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·S GirouxF Rousseau
Sep 4, 2009·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·G H Y LiQ-Y Huang
Sep 22, 2007·Calcified Tissue International·Carles Vilariño-GüellMatthew A Brown
Jan 17, 2008·European Journal of Human Genetics : EJHG·Beben BenyaminPeter M Visscher
Feb 25, 2011·The Journal of Clinical Endocrinology and Metabolism·Braxton D Mitchell, Laura M Yerges-Armstrong
Feb 10, 2012·Interdisciplinary Toxicology·Georgeta Bocheva, Nadka Boyadjieva
Jul 22, 2015·Rheumatology International·Shahryar Noordin, Julie Glowacki
Jan 19, 2007·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·John P A IoannidisStuart H Ralston
Apr 19, 2012·American Journal of Medical Genetics. Part a·Christine M LaineEtienne Sochett
Jun 27, 2006·Experimental Gerontology·Harald GrallertWolfgang Rathmann
Nov 9, 2006·The Journal of Clinical Endocrinology and Metabolism·Gurvinder KenthCynthia Gates Goodyer
Oct 28, 2019·Bone Research·Jian LuoJianru Xiao

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