Low-density lipoprotein receptor-related protein 5 (LRP5) variation in fracture prone children

Bone

Volumn 46, Issue 4, 2010, Pages 940-945

  Saarinen, Anne ^a,b   Mäyränpää, Mervi K ^b   Lehesjoki, Anna Elina ^a,b   Mäkitie, Outi ^a,b  

^a FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

BMD; Fractures; Juvenile osteoporosis; LRP5; Variation

Indexed keywords

DNA; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5;

ADOLESCENT; ARTICLE; CHILD; CHILDHOOD INJURY; COMPRESSION FRACTURE; CONTROLLED STUDY; EXON; FEMALE; FINLAND; FRACTURE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC CORRELATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; INTRON; LONG BONE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; STOP CODON; VERTEBRA FRACTURE;

ADOLESCENT; BONE DENSITY; CHILD; CHILD, PRESCHOOL; FRACTURES, BONE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; LDL-RECEPTOR RELATED PROTEINS; MUTATION; PARATHYROID HORMONE; PATIENT SELECTION; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; STATISTICS, NONPARAMETRIC; VITAMIN D;

EID: 77950626839     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2009.12.022     Document Type: Article

References (27)

1. Landin L.A. Epidemiology of children's fractures. J. Pediatr. Orthop. B 1997, 6:79-83.
2. Goulding A., Jones I.E., Williams S.M., et al. First fracture is associated with increased risk of new fractures during growth. J. Pediatr. 2005, 146:286-288.
3. Clark E.M., Ness A.R., Bishop N.J., Tobias J.H. Association between bone mass and fractures in children: a prospective cohort study. J. Bone Miner. Res. 2006, 21:1489-1495.
4. Ralston S.H. What determines peak bone mass and bone loss?. Baillieres Clin. Rheumatol. 1997, 11:479-494.
5. Cheung M.S., Glorieux F.H. Osteogenesis imperfecta: update on presentation and management. Rev. Endocr. Metab. Disord. 2008, 9:153-160.
6. Dent C.E., Friedman M. Idiopathic juvenile osteoporosis. Q. J. Med. 1965, 34:177-210.
7. Lorenc R.S. Idiopathic juvenile osteoporosis. Calcif. Tissue. Int. 2002, 70:395-397.
8. Lewiecki E.M., Gordon C.M., Baim S., et al. International society for clinical densitometry 2007 adult and pediatric official positions. Bone 2008, 43:1115-1121.
9. Hartikka H., Mäkitie O., Männikkö M., et al. Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. J. Bone Miner. Res. 2005, 20:783-789.
10. Gong Y., Slee R.B., Fukai N., et al. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 2001, 107:513-523.
11. Frontali M., Stomeo C., Dallapiccola B. Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. Am. J. Med. Genet. 1985, 22:35-47.
12. Saarinen A, Saukkonen T, Kivelä T, et al. LDL receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia. Clin Endocrinol (Oxf) 2009 Aug 5. [Epub ahead of print].
13. Richards J.B., Rivadeneira F., Inouye M., et al. Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet 2008, 371:1505-1512.
14. van Meurs J.B., Trikalinos T.A., Ralston S.H., et al. Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. JAMA 2008, 299:1277-1290.
15. Kato M., Patel M.S., Levasseur R., et al. Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a wnt coreceptor. J. Cell. Biol. 2002, 157:303-314.
16. Valta H., Mäkitie O., Rönnholm K., Jalanko H. Bone health in children and adolescents after renal transplantation. J. Bone Miner. Res. 2009, 24:1699-1708.
17. Greulich W.W., Pyle S.I. Radiographic atlas of the skeletal development of the hand and wrist 1959, Stanford Univ. Press, Palo Alto, CA, USA.
18. Mäkitie O., Doria A.S., Henriques F., et al. Radiographic vertebral morphology: a diagnostic tool in pediatric osteoporosis. J. Pediatr. 2005, 146:395-401.
19. Ng P.C., Henikoff S. Predicting deleterious amino acid substitutions. Genome. Res. 2001, 11:863-874.
20. Ramensky V., Bork P., Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002, 30:3894-3900.
21. Saarinen A., Välimäki V.V., Välimäki M.J., et al. The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men. Bone 2007, 40:1006-1012.
22. Kiel D.P., Ferrari S.L., Cupples L.A., et al. Genetic variation at the low-density lipoprotein receptor-related protein 5 (LRP5) locus modulates wnt signaling and the relationship of physical activity with bone mineral density in men. Bone 2007, 40:587-596.
23. Koay M.A., Tobias J.H., Leary S.D., Steer C.D., Vilarino-Guell C., Brown M.A. The effect of LRP5 polymorphisms on bone mineral density is apparent in childhood. Calcif. Tissue Int. 2007, 81:1-9.
24. Boyden L.M., Mao J., Belsky J., et al. High bone density due to a mutation in LDL-receptor-related protein 5. N. Engl. J. Med. 2002, 346:1513-1521.
25. Little R.D., Carulli J.P., Del Mastro R.G., et al. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am. J. Hum. Genet. 2002, 70:11-19.
26. Yadav V.K., Ryu J.H., Suda N., et al. Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum. Cell 2008, 135:825-837.
27. Watts N.B., Ettinger B. Leboff MS. FRAX facts. J. Bone Miner. Res. 2009, 24:975-979.