Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Lawrence RC. Estimates of the prevalence of arthritis and other rheumatic conditions in the United States Part II. Arthritis Rheum. 2008;58:26–35.
Spector TD et al. Genetic influences on osteoarthritis in women: a twin study. BMJ. 1996;312:940–3.
Kerkhof HJ et al. Recommendations for standardization and phenotype definitions in genetic studies of osteoarthritis: the TREAT-OA consortium. Osteoarthritis Cartilage. 2011;19:254–64.
Panoutsopoulou K et al. Concise report: insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study. Ann Rheum Dis. 2011;70:864–7.
Sandell LJ. Etiology of osteoarthritis: genetics and synovial joint development. Nat Rev Rheumatol. 2012;8:77–89.
Gregory JS et al. Early identification of radiographic osteoarthritis of the hip using an active shape model to quantify changes in bone morphometric features: can hip shape tell us anything about the progression of osteoarthritis? Arthritis Rheum. 2007;56:3634–43.
Reichenbach S et al. Prevalence of bone attrition on knee radiographs and MRI in a community-based cohort. Osteoarthritis Cartilage. 2008;16:1005–10.
Shi D et al. Genetic study on developmental dysplasia of the hip. Eur J Clin Invest. 2012;42:1121–5.
Cilliers HJ, Beighton P. Beukes familial hip dysplasia: an autosomal dominant entity. Am J Med Genet. 1990;36:386–90.
Ingvarsson T, Stefansson SE, Gulcher JR, Jonsson HH, Jonsson H, Frigge ML, et al. A large Icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p. Arthritis Rheum. 2001;44:2548–55.
Mabuchi A, Nakamura S, Takatori Y, Ikegawa S. Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q. Am J Hum Genet. 2006;79:163–8.
Feldman GJ, Parvizi J, Levenstien M, Scott K, Erickson JA, Fortina P, et al. Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multi-generation family. J Bone Miner Res. 2013. doi:10.1002/jbmr.1999. Epub ahead of print.
Feldman GJ, Peters CL, Erickson JA, Hozack BA, Jaraha R, Parvizi J. Variable expression and incomplete penetrance of developmental dysplasia of the hip: clinical challenge in a 71-member multigeneration family. J Arthroplasty. 2012;27(4):527–32. Epub 2011 Dec 16.
Hoshino A, Ueha S, Hanada S, Imai T, Ito M, Yamamoto K, et al. Roles of chemokine receptor CX3CR1 in maintaining murine bone homeostasis through the regulation of both osteoblasts and osteoclasts. J Cell Sci. 2013;126(Pt 4):1032–45. doi:10.1242/jcs.113910. Epub 2012 Dec 21.
Frazer KA. Human genetic variation and its contribution to complex traits. Nat Rev Genet. 2009;10:241–51.
Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole genome sequencing. Nat Rev Genet. 2010;11:415–25.
Ng SB. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010;42:30–5.
Jia J, Li L, Zhao Q, Zhang L, Ru J, Liu X, et al. Association of a single nucleotide polymorphism in pregnancy-associated plasma protein-A2 with developmental dysplasia of the hip: a case-control study. Osteoarthr Cartil. 2012;20:60–3.
Shi D, Dai J, Zhu L, Zhu H, et al. Association of the D repeat polymorphism in the ASPN gene with developmental hip dysplasia of the hip: a case-control study in the Han Chinese. Arthritis Res Ther. 2011;13:R27.
Kolundzic R, Trkulja V, Mikolaucic M, Jovanic M, Pavelic S, Pavelic K. Association of interleukin-6 and transforming growth factor-b1 gene polymorphisms with developmental hip dysplasia and severe adult hip osteoarthritis: a preliminary study. Cytokine. 2011;54(2):125–8.
Wang K, Shi D, Zhu P, Dai J, Zhu H, Lv Y, et al. Association of a single nucleotide polymorphism in Tbx4 with developmental dysplasia of the hip: a case-control study. Osteoarthr Cartil. 2010;18:1592–5.
Rouault K, Scotet V, Autret S, Gaucher F, Dubrana F, Tanguy D, et al. Do HOXB9 and COL1A1 genes play a role in congenital dislocation of the hip? Study in a Caucasian population. Osteoarthritis Cartilage. 2009;17:1099–105.
Dai J, Shi D, Zhu P, Qin J, Ni H, Xu Y, et al. Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study. Arthritis Res Ther. 2008;10:R126.
Rubini M, Cavallaro A, Calzolari E, Bighetti G, Sollazzo V. Exclusion of COL2A1 and VDR as developmental dysplasia of the hip genes. Clin Orthop Relat Res. 2008;466:878–83.
Loughlin J, Sinsheimer JS, Carr A, Chapman K. The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population. Osteoarthritis Cartilage. 2006;14:295–8.
Jiang J, Ma HW, Li QW, Lu JF, Niu GH, Zhang LJ, et al. Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of the hip in Chinese population [in Chinese]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005;22:327–9.
Mototani H, Mabuchi A, Saito S, Fujioka M, Iida A, Takatori Y, et al. A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese. Hum Mol Genet. 2005;14:1009–17.
Jiang J, Ma HW, Lu Y, Wang YP, Wang Y, Li QW, et al. Transmission disequilibrium test for congenital dislocation of the hip and HOXB9 gene or COL1AI gene [in Chinese]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20:193–5.
Granchi D, Stea S, Sudanese A, Toni A, Baldini N, Giunti A. Association of two gene polymorphisms with osteoarthritis secondary to hip dysplasia. Clin Orthop Relat Res. 2002;403:108–17.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer Science+Business Media LLC
About this chapter
Cite this chapter
Feldman, G., Parvizi, J., Sawan, H. (2017). Research Advances in Understanding the Genetic Basis of Hip Disease. In: McCarthy, J., Noble, P., Villar, R. (eds) Hip Joint Restoration. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-0694-5_100
Download citation
DOI: https://doi.org/10.1007/978-1-4614-0694-5_100
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-0693-8
Online ISBN: 978-1-4614-0694-5
eBook Packages: MedicineMedicine (R0)