Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women

@article{Pettersson2005PolymorphismsOT,  title={Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women},  author={Ulrika Pettersson and Omar M. E. Albagha and Max Mirolo and Anna Taranta and Annalisa Frattini and Fiona Mcguigan and Paolo Vezzoni and Anna Teti and Wim Van Hul and David M. Reid and Anna Villa and Stuart H. Ralston},  journal={Journal of Bone and Mineral Research},  year={2005},  volume={20},  url={https://api.semanticscholar.org/CorpusID:22530335}}
Here we show that a common polymorphism causing a valine to methionine amino acid substitution at codon 418 (V418M) in the CLCN7 gene is associated with femoral neck BMD in women. Our study adds to…

39 Citations

Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II.

A significant association of CLCN7 polymorphisms with the variance of BMD and bone resorption marker levels in postmenopausal women and with the variability of the ADOII phenotype is observed.

Large‐Scale Population‐Based Study Shows No Association Between Common Polymorphisms of the TGFB1 Gene and BMD in Women

Five common polymorphisms of TGFB1 in relation to osteoporosis‐related phenotypes in a population‐based cohort of 2975 British women are studied, but there is no significant association with bone mass, bone loss, bone markers, or fracture.

Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women.

Two haplotypes defined by polymorphisms in the 5' flank of the COLIA1 regulate BMD in a bidirectional manner in women.

Edinburgh Research Explorer Genetics and Osteoporosis

The techniques that have been used to identify genes that regulate susceptibility to osteoporosis are reviewed and the major candidate genes which have been implicated in the regulation of bone mass and susceptibility to Osteoporotic fracture are discussed.

Edinburgh Research Explorer Genetics and Osteoporosis

The techniques that have been used to identify genes that regulate susceptibility to osteoporosis are reviewed and the major candidate genes which have been implicated in the regulation of bone mass and susceptibility to Osteoporotic fracture are discussed.

Edinburgh Research Explorer Genetics and Osteoporosis

The techniques that have been used to identify genes that regulate susceptibility to osteoporosis are reviewed and the major candidate genes which have been implicated in the regulation of bone mass and susceptibility to Osteoporotic fracture are discussed.

Edinburgh Research Explorer Genetics and Osteoporosis

The techniques that have been used to identify genes that regulate susceptibility to osteoporosis are reviewed and the major candidate genes which have been implicated in the regulation of bone mass and susceptibility to Osteoporotic fracture are discussed.

Genetics of osteoporosis

Advances in knowledge about the genetic basis of osteoporosis are likely to be important in increasing the understanding of the pathophysiology of the disease; providing new genetic markers with which to assess fracture risk and in identifying genes and pathways that form molecular targets for the design of the next generation of drug treatments.

29 References

Influence of LRP5 Polymorphisms on Normal Variation in BMD

Significant association and suggestive linkage between LRP5 gene polymorphisms and BMD in >900 individuals with a broad range of BMD is described.

Association Between a Polymorphism Affecting an AP1 Binding Site in the Promoter of the TCIRG1 Gene and Bone Mass in Women

It is concluded that allelic variation at the G-1102A site of TCIRG1 accounts for part of the heritable component of BMD in Scottish women, possibly by affecting peak bone mass.

Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites.

Moderate SOST genotype effects are observed, likely to involve differences in regulation of SOST gene expression, and additive effects of SRP3 with the COLIA1 Sp1 polymorphism but not with haplotypes of 3' polymorphisms in the vitamin-D receptor gene.

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.

It is suggested that the HBM mutation confers a unique osteogenic activity in bone remodeling, and this understanding may facilitate the development of novel therapies for the treatment of osteoporosis.

Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites.

It is suggested that LRP5 variants significantly contribute to LS-bone-mass and size determination in men by influencing vertebral bone growth during childhood.

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It is concluded that ClCN7 mutations not only account for some dominant and malignant forms but also for intermediate forms of osteopetrosis.

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

Results indicate that, despite the different diagnoses that can be made, conditions with an increased bone density affecting mainly the cortices of the long bones and the skull are often caused by mutations in the LRP5 gene.

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.

From genotype-phenotype correlations, it seems that ADO II reflects a dominant negative effect, whereas loss-of-function mutations in ClCN7 do not cause abnormalities in heterozygous individuals.

The mutational spectrum of human malignant autosomal recessive osteopetrosis.

This study contributes to the determination of genetic heterogeneity of arOP and allows further delineation of the other genetic defects causing this severe condition.

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