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The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

https://arctichealth.org/en/permalink/ahliterature165637
Source
Bone. 2007 Apr;40(4):1006-12
Publication Type
Article
Date
Apr-2007
Author
Anne Saarinen
Ville-Valtteri Välimäki
Matti J Välimäki
Eliisa Löyttyniemi
Kirsi Auro
Piia Uusen
Mairi Kuris
Anna-Elina Lehesjoki
Outi Mäkitie
Author Affiliation
Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
Source
Bone. 2007 Apr;40(4):1006-12
Date
Apr-2007
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Alleles
Bone Density - genetics
Calcifediol - blood
Finland
Fractures, Bone - etiology - genetics
Gene Frequency
Humans
LDL-Receptor Related Proteins - genetics
Low Density Lipoprotein Receptor-Related Protein-5
Male
Military Personnel
Osteoporosis - etiology - genetics
Parathyroid Hormone - blood
Polymorphism, Single Nucleotide
Risk factors
Abstract
Polymorphisms in the gene coding for low-density lipoprotein receptor-related protein 5 (LRP5) contribute to variation in bone mass in the general population. Whether this is due to influence on bone mass acquisition or on bone loss thereafter has not been established.
We studied the association of LRP5 polymorphisms with peak bone mass in young men. The study included 235 Finnish men, aged 18.3 to 20.6 years. Lifestyle factors and fracture history were recorded. Bone mineral content (BMC), density (BMD) and scan area were measured for the lumbar spine and proximal femur by dual energy X-ray absorptiometry (DXA). Blood and urine were collected for determination of bone turnover markers, serum 25-OHD and PTH. Genomic DNA was extracted from peripheral blood for genetic analysis of LRP5. Ten single nucleotide polymorphisms in LRP5 were analyzed and correlated with bone parameters.
Only the A1330V polymorphism of LRP5 significantly associated with bone parameters. In comparison with subjects with the AlaAla genotype (n=215), those with AlaVal genotype (n=20) had lower femoral neck BMC (P=0.029) and BMD (P=0.012), trochanter BMC (P=0.0067) and BMD (P=0.015), and total hip BMC (P=0.0044) and BMD (P=0.0089). Fracture history was similar for the genotypes.
The polymorphic valine variant at position 1330 of LRP5 was significantly associated with reduced BMC and BMD values in healthy young Finnish men. The results provide evidence for the crucial role of LRP5 in peak bone mass acquisition.
PubMed ID
17223614 View in PubMed
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Patients with Rett syndrome sustain low-energy fractures.

https://arctichealth.org/en/permalink/ahliterature138410
Source
Pediatr Res. 2011 Apr;69(4):359-64
Publication Type
Article
Date
Apr-2011
Author
Gitte Roende
Kirstine Ravn
Kathrine Fuglsang
Henrik Andersen
Aage Vestergaard
Karen Brøndum-Nielsen
Jens-Erik Beck Jensen
Jytte Bieber Nielsen
Author Affiliation
Center for Rett Syndrome, Kennedy Center, Glostrup 2600, Denmark. gitte@roende.org
Source
Pediatr Res. 2011 Apr;69(4):359-64
Date
Apr-2011
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Case-Control Studies
Child
Denmark
Female
Fractures, Bone - etiology - genetics
Humans
Methyl-CpG-Binding Protein 2 - genetics
Middle Aged
Mutation
Registries
Rett Syndrome - complications - genetics
Risk factors
Young Adult
Abstract
We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown increased fracture risk in RTT. This was also our hypothesis regarding the Danish RTT population. Therefore, we investigated risk factors associated with low-energy trauma and the association to methyl-CpG-binding protein 2 (MECP2) mutations. A total of 61 female patients with RTT and 122 healthy controls matched according to age and pubertal/menopause status were examined by questionnaires, bone biochemical markers in blood, and clinical and x-ray evaluations. National register search on fracture diagnoses was done to obtain complete fracture histories. Our results showed that patients with RTT sustained significantly more low-energy fractures from early age compared with controls, even though overall fracture occurrence apparently was not increased. Low-energy fractures were significantly associated with less mobility and lack of ambulation. Associations with MECP2 mutations or epilepsy were not demonstrated, contrary to previous findings. Blood biochemistry indicated a possible need for D vitamin supplementation in RTT. Our study casts light on fracture occurrence in RTT and points to a need for future research in bone development and fracture risk to establish directions for improved prevention and treatment of low-energy fractures in RTT.
PubMed ID
21178819 View in PubMed
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