A1330V variant of the low-density lipoprotein receptor-related protein 5 (LRP5) gene decreases Wnt signaling and affects the total body bone mineral density in Japanese women

Endocrine Journal

Volumn 56, Issue 4, 2009, Pages 625-631

  Urano, Tomohiko ^a   Shiraki, Masataka ^b   Usui, Takahiko ^a   Sasaki, Noriko ^a   Ouchi, Yasuyoshi ^a   Inoue, Satoshi ^a,c  

^a UNIVERSITY OF TOKYO   (Japan)

^b RESEARCH INSTITUTE AND PRACTICE FOR INVOLUTIONAL DISEASES   (Japan)

^c SAITAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

Bone mineral density (BMD); Low density lipoprotein receptor related protein 5 (LRP5); Osteoporosis; Single nucleotide polymorphism (SNP)

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; VALINE; WNT3 PROTEIN;

AGED; ARTICLE; BONE DENSITY; BONE METABOLISM; CONTROLLED STUDY; FEMALE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IN VITRO STUDY; JAPANESE; MAJOR CLINICAL STUDY; POSTMENOPAUSE; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE; WOMEN'S HEALTH;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BONE DENSITY; FEMALE; HUMANS; LDL-RECEPTOR RELATED PROTEINS; MIDDLE AGED; OSTEOPOROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; WNT PROTEINS;

EID: 68449085922     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K09E-133     Document Type: Article

References (37)

1. Cummings SR, Melton LJ (2002) Epidemiology and outcomes of osteoporotic fractures. Lancet 359:1761-1767.
2. Flicker L, Hopper JL, Rodgers L, Kaymakci B, Green RM, Wark JD (1995) Bone density determinants in elderly women: a twin study. J Bone Miner Res 10:1607-1613.
3. Smith DM, Nance WE, Kang KW, Christian JC, Johnston CC Jr (1973) Genetic factors in determining bone mass. J Clin Invest 2:2800-2808.
4. Young D, Hopper JL, Nowson CA, Green RM, Sherwin AJ, Kaymakci B, Smid M, Guest CS, Larkins RG, Wark JD (1995) Determinants of bone mass in 10-to 26-year-old females: a twin study. J Bone Miner Res 10:558-567.
5. Nelson DA, Kleerekoper M. (1997) The search for the osteoporosis gene. J Clin Endocrinol Metab 82:989-990.
6. Liu YZ, Liu YJ, Recker RR, Deng HW (2003) Molecular studies of identification of genes for osteoporosis: the 2002 update. J Endocrinol 177:147-196.
7. Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook Pn, Eisman JA (1994) Prediction of bone density from vitamin D receptor alleles. Nature 367:284-287. (Pubitemid 24051146)
8. kobayashi S, Inoue S, Hosoi T, Ouchi y, Shiraki M, Orimo H (1996) Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 11:306-311.
9. Uitterlinden AG, Burger H, Huang Q, Yue F, McGuigan FE, Grant SF, Hofman A, van Leeuwen JP, Pols HA, Ralston SH (1998) Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women. N Engl J Med 338:1016-1021. (Pubitemid 28180402)
10. Clevers H (2006) Wnt/beta-catenin signaling in development and disease. Cell 127:469-480.
11. Huang H, He X (2008) Wnt/beta-catenin signaling: new (and old) players and new insights. Curr Opin Cell Bio 20:119-125.
12. Gong y, Slee RB, Fukai n, Rawadi G, Roman-Roman S et al. (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107:513-523.
13. Kato M, Patel MS, Levasseur R, Lobov I, Chang BHJ, Glass DAII, Hartmann C, Li L, Hwang TH, Brayton CF, Lang RA, Karsenty G, Chan L (2002) Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor. J Cell Biol 157:303-314. (Pubitemid 34839826)
14. Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna k, Lifton RP (2002) High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 346:1513-1521.
15. Little RD, Carulli JR, Del Mastro RG, Dupuis J, Osborne M et al. (2002) A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 70:11-19. (Pubitemid 34031693)
16. Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto k, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa n, Yoshiura K (2004) LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. J Hum Genet 49:80-86.
17. Ezura Y, Nakajima T, Urano T, Sudo Y, Kajita M, Yoshida H, Suzuki T, Hosoi T, Inoue S, Shiraki M, Emi M (2007) Association of a single-nucleotide variation (A1330V) in the low-density lipoprotein receptor-related protein 5 gene (LRP5) with bone mineral density in adult Japanese women. Bone 40:997-1005. (Pubitemid 46386523)
18. Balemans W, Van Hul W (2007) The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes. Endocrinology 148:2622-2629. (Pubitemid 46984773)
19. Richards JB, Rivadeneira F, Inouye M, Pastinen TM, Soranzo N, Wilson SG, Andrew T, Falchi M, Gwilliam R, Ahmadi KR, Valdes AM, Arp P, Whittaker P, Verlaan DJ, Jhamai M, Kumanduri V, Moorhouse M, van Meurs JB, Hofman A, Pols HA, Hart D, Zhai G, Kato BS, Mullin BH, Zhang F, Deloukas P, Uitterlinden AG, Spector TD (2008) Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet 371:1505-1512.
20. Urano T, Narusawa K, Shiraki M, Usui T, Sasaki N, Hosoi T, Ouchi Y, Nakamura T, Inoue S (2008) Association of a single nucleotide polymorphism in the insulin-like growth factor-1 receptor gene with spinal disc degeneration in postmenopausal Japanese women. Spine 33:1256-1261. (Pubitemid 351677624)
21. Urano T, Shiraki M, Ezura Y, Fujita M, Sekine E, Hoshino S, Hosoi T, Orimo H, Emi M, Ouchi Y, Inoue S (2004) Association of a single-nucleotide polymorphism in low-density lipoprotein receptor-related protein 5 gene with bone mineral density. J Bone Miner Metab 22:341-345. (Pubitemid 38980950)
22. Ferrari SL, Deutsch S, Choudhury U, Chevalley T, Bonjour JP, Dermitzakis ET, Rizzoli R, Antonarakis SE (2004) 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. Am J Hum Genet 74: 866-875. (Pubitemid 38568961)
23. Koh JM, Jung MH, Hong JS, Park HJ, Chang JS, Shin HD, Kim Sy, Kim GS (2004) Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young korean men. J Korean Med Sci 19:407-412. (Pubitemid 38859832)
24. Lau HH, Ng My, Ho Ay, Luk KD, Kung AW (2005) Genetic and environmental determinants of bone mineral density in Chinese women. Bone 36:700-709 (Pubitemid 40602264)
25. Zhang ZL, Qin YJ, He JW, Huang QR, Li M, Hu YQ, Liu YJ (2005) Association of polymorphisms in low-density lipoprotein receptor-related protein 5 gene with bone mineral density in postmenopausal Chinese women. Acta Pharmacol Sin 26:1111-1116. (Pubitemid 41296951)
26. Lau HH, Ng My, Cheung WM, Paterson AD, Sham PC, Luk KD, Chan V, Kung AW (2006) Assessment of linkage and association of 13 genetic loci with bone mineral density. J Bone Miner Metab 24:226-234.
27. Urano T, Shiraki M, Narusawa K, Usui T, Sasaki N, Hosoi T, Ouchi Y, nakamura T, Inoue S (2007) Q89R polymorphism in the LDL receptor-related protein 5 gene is associated with spinal osteoarthritis in post-menopausal Japanese women. Spine 32: 25-29.
28. Hey PJ, Twells RC, Phillips MS, Yusuke Nakagawa, Brown SD, Kawaguchi Y, Cox R, Guochun Xie, Dugan V, Hammond H, Metzker ML, Todd JA, Hess JF (1998) Cloning of a novel member of the low-density lipoprotein receptor family. Gene 216:103-111 (Pubitemid 28389107)
29. Bennett Cn, Longo KA, Wright WS, Suva LJ, Lane TF, Hankenson KD, MacDougald OA (2005) Regulation of osteoblastogenesis and bone mass by Wnt10b. Proc Natl Acad Sci USA 102:3324-3329. (Pubitemid 40328044)
30. Glass DA 2nd, Bialek P, Ahn JD, Starbuck M, Patel MS, Clevers H, Taketo MM, Long F, McMahon AP, Lang RA, Karsenty G (2005) Canonical Wnt signaling in differentiated osteoblasts controls osteoclast differentiation. Dev Cell 8:751-764.
31. Babij P, Zhao W, Small C, Kharode y, Yaworsky PJ, Bouxsein ML, Reddy PS, Bodine PV, Robinson JA, Bhat B, Marzolf J, Moran RA, Bex F (2008) High bone mass in mice expressing a mutant LRP5 gene. J Bone Miner Res 18:960-974.
32. Yadav Vk, Ryu JH, Suda n, Tanaka KF, Gingrich JA, Schütz G, Glorieux FH, Chiang Cy, Zajac JD, Insogna KL, Mann JJ, Hen R, Ducy P, karsenty G (2009) Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum. Cell 135:825-837.
33. Magoori K, Kang MJ, Ito MR, Kakuuchi H, Loka RX, Kamataki A, Kim DH, Asaba H, Iwasaki S, Takei YA, Sasaki M, Usui S, Okazaki M, Takahashi S, Ono M, Nose M, Sakai J, Fujino T, Yamamoto TT (2003) Severe hypercholesterolemia, impaired fat tolerance, and advanced atherosclerosis in mice lacking both low density lipoprotein receptor-related protein 5 and apoli-poprotein E. J Biol Chem 278:11331-11336. (Pubitemid 36792690)
34. Fujino T, Asaba H, Kang MJ, Ikeda Y, Sone H, Takada S, Kim DH, Loka RX, Ono M, Tomoyori H, Okubo M, Murase T, kamataki A, Yamamoto J, Magoori K, Takahashi S, Miyamoto Y, Oishi H, Nose M, Okazaki M, Usui S, Imaizumi K, Yanagisawa M, Sakai J, Yamamoto TT (2003) Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion. Proc Natl Acad Sci USA 100:229-234.
35. Guo YF, Xiong DH, Shen H, Zhao LJ, Xiao P, Guo y, Wang W, yang TL, Recker RR, Deng HW (2006) Polymorphisms of the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family-based association study. J Med Genet 43:798-803.
36. Suwazono Y, kobayashi E, Uetani M, Miura k, Morikawa y, Ishizaki M, Kido T, nakagawa H, nogawa K (2006) G-protein beta 3 subunit polymorphism C1429T and low-density lipoprotein receptor-related protein 5 polymorphism A1330V are risk factors for hypercholesterolemia in Japanese males - a prospective study over 5 years. Metabolism 55:751-757.
37. Furuya T, Urano T, Ikari k, Kotake S, Inoue S, Hara M, Momohara S, Kamatani N, Yamanaka H (2009) A1330V polymorphism of low-density lipoprotein receptor-related protein 5 gene and self-reported incident fractures in Japanese female patients with rheumatoid arthritis. Mod Rheumatol 19:140-146.