Association between AAAG repeat polymorphism in the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene and adult height, urinary pyridinoline excretion, and promoter activity

The Journal of Clinical Endocrinology and Metabolism
M MinagawaY Kohno

Abstract

The PTH/PTHrP receptor (PTHR1) plays an essential role in skeletal development and mediates many other functions of PTH and PTHrP. Human PTHR1 gene transcription is controlled by three promoters, P1-P3. The most proximal promoter, P3, is active in bone and osteoblast-like cell lines and accounts for the majority of renal transcripts in adults. We have identified a tetranucleotide repeat (AAAG)n polymorphism in the P3 promoter. In 214 unrelated Japanese, the repeat number (n) ranged from 3-8, with the AAAG5 allele being the most frequent (59%). In 55 unrelated Caucasians, n ranged from 5-7, and the frequency of the AAAG5 allele was 78%. The most frequent genotypes in a cohort of 85 young (18-20 yr) female Japanese were 5/5, 5/6, and 6/6. The 6/6 genotype was associated with greater height (5/5 vs. 6/6; P < 0.02) and lower urinary deoxypyridinoline and pyridinoline (P < 0.02), which are markers of bone resorption. The height of an additional 71 healthy female Japanese subjects, aged 14-17 yr, having genotype 5/5, 5/6, or 6/6 was also in the order of genotype 5/5 < 5/6 < 6/6 (5/5 vs. 6/6, P < 0.05). There was no significant difference in lumbar and femoral bone mineral density between genotypes. Likewise, there was no difference i...Continue Reading

References

May 24, 1994·Proceedings of the National Academy of Sciences of the United States of America·K A McCuaigJ H White
Jan 1, 1996·Hormone Research·M A Preece
Jan 5, 2000·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·E L DuncanJ A Wass
Jan 20, 2000·The New England Journal of Medicine·G J Strewler
Jul 27, 2000·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·H Jüppner
Aug 6, 2000·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·P SzulcP D Delmas
Oct 18, 2000·Endocrinology and Metabolism Clinics of North America·G J Strewler

❮ Previous
Next ❯

Citations

Sep 22, 2007·Calcified Tissue International·Carles Vilariño-GüellMatthew A Brown
Oct 8, 2004·Annals of Human Genetics·Yao-Zhong LiuHong-Wen Deng
Feb 19, 2004·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Jonathan H Tobias, Cyrus Cooper
Aug 23, 2005·Biochemical and Biophysical Research Communications·Yan-Jun YangHong-Wen Deng
Jan 1, 2006·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Tsutomu Ogata
Dec 22, 2005·Journal of Bone and Mineral Metabolism·Yuan-Yuan ZhangHong-Wen Deng
Jul 20, 2006·The Journal of Clinical Endocrinology and Metabolism·Yao-Zhong LiuHong-Wen Deng
Jul 22, 2015·Rheumatology International·Shahryar Noordin, Julie Glowacki
Aug 16, 2003·Clinical Endocrinology·Justine A Ellis, Stephen B Harrap
Apr 11, 2019·Hormone Research in Pædiatrics·Charmian A QuigleyJohn S Parks

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.