Association of single nucleotide polymorphisms in the promoter region of the pro-opiomelanocortin gene (POMC) with low bone mineral density in adult women

Sudo, Yoshihiro; Ezura, Yoichi; Kajita, Mitsuko; Yoshida, Hideyo; Suzuki, Takao; Hosoi, Takayuki; Inoue, Satoshi; Shiraki, Masataka; Ito, Hiromoto; Emi, Mitsuru

doi:10.1007/s10038-005-0244-x

Cited by 7 publications

(2 citation statements)

References 34 publications

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“…Glucocorticoids diminish calcium absorption and increase renal calcium excretion. A significant association of three variations in the promoter region of the POMC gene (-2353G/A, -2345G/A, and -2313A/C) with radial BMD was recently observed among adult Japanese women (Sudo et al 2005). Calmodulin is involved in the differential control of osteoblast proliferation and differentiation (Siddhanti and Quarles 1994).…”

Section: Discussionmentioning

confidence: 99%

The association of common polymorphisms in the QPCT gene with bone mineral density in the Chinese population

Huang

Kung

2007

J Hum Genet

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Evidence of the linkage of chromosome 2p to bone mineral density (BMD) has previously been reported in multiple populations. However, the identification of the BMD quantitative trait loci (QTL) gene at chromosome 2p remains a challenge. We performed a gene-wide and tag single nucleotide polymorphism (SNP)-based association study of four positional and functional candidate genes (CALM2, CYP1B1, QPCT, and POMC) in a sample of 1,243 cases and matched controls. Thirteen HapMap tag SNPs were selected and genotyped by using the highthroughput Sequenom genotyping platform. Binary logistic regression analyses were performed to test for associations between each SNP genotype and BMD. Haplotype association analyses were performed by WHAP. The rs3770748 within the QPCT gene showed a significant association with spine BMD in both singlemarker (P = 0.002) and haplotype association analyses (P = 0.0482 for the global test; P = 0.00092 for the haplotype-specific test). Subgroup analysis revealed that the effect was primarily driven by an association in the postmenopausal women, presumably suggesting that the rs3770748 affects postmenopausal bone loss rather than peak bone mass. Our results suggest that QPCT may be the QTL gene at chromosome 2p for spine BMD variation in the Chinese population.

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Section: Discussionmentioning

confidence: 99%

The association of common polymorphisms in the QPCT gene with bone mineral density in the Chinese population

Huang

Kung

2007

J Hum Genet

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“…Therefore, α-MSH is proposed to potentially delay the process of inflammatory and degenerative joint diseases [240]. Additionally, single nucleotide polymorphisms (SNPs) in the promoter region of the POMC gene were associated with low BMD [241]. Female mice lacking estrogen receptors in POMC neurons display an increase in cortical bone mass and mechanical strength [242], which implies a negative effect of estrogen on bone mass through POMC neurons.…”

Section: Central Regulationmentioning

confidence: 99%

Crosstalk of Brain and Bone—Clinical Observations and Their Molecular Bases

Otto

Knapstein

Jahn

et al. 2020

IJMS

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As brain and bone disorders represent major health issues worldwide, substantial clinical investigations demonstrated a bidirectional crosstalk on several levels, mechanistically linking both apparently unrelated organs. While multiple stress, mood and neurodegenerative brain disorders are associated with osteoporosis, rare genetic skeletal diseases display impaired brain development and function. Along with brain and bone pathologies, particularly trauma events highlight the strong interaction of both organs. This review summarizes clinical and experimental observations reported for the crosstalk of brain and bone, followed by a detailed overview of their molecular bases. While brain-derived molecules affecting bone include central regulators, transmitters of the sympathetic, parasympathetic and sensory nervous system, bone-derived mediators altering brain function are released from bone cells and the bone marrow. Although the main pathways of the brain-bone crosstalk remain ‘efferent’, signaling from brain to bone, this review emphasizes the emergence of bone as a crucial ‘afferent’ regulator of cerebral development, function and pathophysiology. Therefore, unraveling the physiological and pathological bases of brain-bone interactions revealed promising pharmacologic targets and novel treatment strategies promoting concurrent brain and bone recovery.

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Genetic aspects of osteoporosis

Hosoi

2010

J Bone Miner Metab

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The multiple factors contributing to the pathogenesis of osteoporosis include genetic and environmental factors. Because decrease in bone mineral density (BMD) is the major clinical indicator and a useful quantitative trait, many association and linkage studies of BMD have been conducted. Although the series of studies showed apparently significant associations, the genes have not been found that can be utilized in clinical practice. Several genes identified in robust genome-wide association studies will be the new cutting edge in genetic studies of osteoporosis. Our recent reports of functional single nucleotide polymorphism in the tissue-nonspecific alkaline phosphatase gene and gamma-carboxylase gene are presented in this review to discuss the future prospects in the genetic research of osteoporosis from the point of view of genome-nutrition interaction.

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Association of single nucleotide polymorphisms in the promoter region of the pro-opiomelanocortin gene (POMC) with low bone mineral density in adult women

Abstract: Among multiple factors influencing osteoporosis, genetic variations involved in bone-mineral metabolism can affect risks predisposing to the disease onset. Here, we studied single-nucleotide polymorphisms (SNPs) in the pro-opiomelanocortin (

Cited by 7 publications

References 34 publications

The association of common polymorphisms in the QPCT gene with bone mineral density in the Chinese population

The association of common polymorphisms in the QPCT gene with bone mineral density in the Chinese population

Crosstalk of Brain and Bone—Clinical Observations and Their Molecular Bases

Genetic aspects of osteoporosis

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