ArticleHuman genetics2006
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.
Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2007Pooled it
- Prenatal and Neonatal Bone Health: Updated Review on Early Identification of Newborns at High Risk for Osteopenia.Nutrients · 2023Review
- The role of GPCRs in bone diseases and dysfunctions.Bone research · 2019Review
- Impaired calcium sensing distinguishes primary hyperparathyroidism (PHPT) patients with low bone mineral density.Metabolism: clinical and experimental · 2017Article
- Parathyroid hormone and its receptor gene polymorphisms: implications in osteoporosis and in fracture healing.Rheumatology international · 2016Review
- Association between promoter region genetic variants of PTH SNPs and serum 25(OH)-vitamin D level.International journal of clinical and experimental pathology · 2015Article
- Epigenetic regulation of fetal bone development and placental transfer of nutrients: progress for osteoporosis.Interdisciplinary toxicology · 2011Article
- A long AAAG repeat allele in the 5' UTR of the ERR-γ gene is correlated with breast cancer predisposition and drives promoter activity in MCF-7 breast cancer cells.Breast cancer research and treatment · 2011Article
- The genetics of bone loss: challenges and prospects.The Journal of clinical endocrinology and metabolism · 2011Review
- Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2010Article
- Quantitative trait loci, genes, and polymorphisms that regulate bone mineral density in mouse.Genomics · 2009Review
- Replication of associations between LRP5 and ESRRA variants and bone density in premenopausal women.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2008Article
- Molecular genetic studies of gene identification for osteoporosis: a 2004 update.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2006Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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) than the others (X/X, 164.5+/-0.3 cm; P=0.034). This association was significant after adjusting for multiple covariates-current age, age at menarche, physical activity, smoking status, and intakes of caffeine and calcium. Comparison of genotype groups for BMD was not significant at LS, but BMD was significantly higher at FN in the group with at least one (AAAG)(6) allele (adjusted means: 1.021+/-0.008 vs. 0.999+/-0.006 g/cm(2), P=0.032). In conclusion, our data show that subjects bearing one or two (AAAG)(6) alleles are taller than subjects without, reinforcing the notion that in vivo variation in promoter activity of the PTHR1 gene may be a relevant genetic influence on final adult height and BMD.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.