A Mutation in Cartilage Oligomeric Matrix Protein (COMP) Causes Early-Onset Osteoarthritis in a Large Kindred Study

Annals of Human Genetics

Volumn 75, Issue 5, 2011, Pages 575-583

  Mu, Shu Chi ^a,b,c   Lin, Yi Jung ^d   Liu, Hwa Chang ^e,f   Wu, Jer Yuarn ^g   Li, Sing Chung ^c   Michael Lee, Ming Ta ^d,h   Chou, Ching Heng ^e,f   Chen, Liang Kuang ^g   Chen, Yuan Tsong ^c  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b FU JEN CATHOLIC UNIVERSITY   (Taiwan)

^c SHIN KONG WU HO SU MEMORIAL HOSPITAL   (Taiwan)

^d INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^e NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^f TAIWAN ADVENTIST HOSPITAL   (Taiwan)

^g TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^h DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

COMP; Early onset osteoarthritis; Genome wide linkage; Multiple epiphyseal dysplasia (MED); Phenotype; Pseudoachondroplasia (PSACH)

Indexed keywords

ARGININE; CARTILAGE OLIGOMERIC MATRIX PROTEIN; TRYPTOPHAN;

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 19P; CONTROLLED STUDY; DNA SEQUENCE; EARLY ONSET OSTEOARTHRITIS; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; OSTEOARTHRITIS; PRIORITY JOURNAL; SUBSTITUTION LINE;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GLYCOPROTEINS; HUMANS; MALE; MUTATION; OSTEOARTHRITIS;

EID: 80051571182     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2011.00667.x     Document Type: Article

References (25)

1. Aspelund G., Gunnarsdottir S., Jonsson P., Jonsson H. (1996). Hand osteoarthritis in the elderly. Application of clinical criteria. Scand J Rheumatol 25, 34-36.
2. Briggs MD, Chapman KL. (2002). Pseudochondroplasia aand multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat 19, 465-478.
3. Chaisson CE, Zhang Y, McAlindon T.E., Hannan M.T., Aliabadi P., Naimark A., Levy D., Felson D.T. (1997). Radiographic hand osteoarthritis: incidence, patterns, and influence of pre-existing disease in a population based sample. J Rheumatol 24, 1337-1343.
4. Chen H.C., Shah S.H., Li Y.J., Stabler T.V., Jordan J.M., Kraus V.B. (2008a). Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels. Arthritis Rheum 58, 3854-3864.
5. Chen T.L., Posey K.L., Hecht J.T., Vertel B.M. (2008b). COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. J Cell Biochem 103, 778-787.
6. Jakkula E., Lohiniva J., Capone A., Bonafe L., Marti M.K., Schuster V., Giedion A., Eich G., Boltshauser E., Ala-Kokko L., Superti-Furga A. (2003). A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. J Med Genet 40, 942-948.
7. Jackson G.C., Marcus-Soekarman D., Stolte-Dijkstra I., Verrips A., Taylor J.A., Briggs M.D. (2010). Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. Am J Med Genet A 152A, 863-869.
8. Kennedy J., Jackson G.C., Barker F.S., Nundlall S., Bella J., Wright M.J., Mortier G.R., Neas K., Thompson E., Elles R., Briggs M.D. (2005a). Novel and recurrent mutations in the C-terminal domain of COMP cluster in two district regions and result in aspectrum of phenotypes within the ppseudoachondroplasia-multiple epiphyseal dysplasia disease group. Hum Mutat 25, 593-594.
9. Kennedy J., Jackson G., Ramsden S., Taylor J., Newman W., Wright M.J., Donnai D., Elles R., Briggs M.D. (2005b). COMP mutation screening as an aid for the clinical diagnosis and counseling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. Eur J Hum Genet 13, 547-555.
10. Knowlton R.G., Katzenstein P.L., Moskowitz R.W., Weaver E.J., Malemud C.J., Pathria M.N., Jimenez S.A., Prockop D.J. (1990). Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. N Engl J Med 322, 526-530.
11. Lopponen T., Korkko J., Lundan T., Seppanen U., Ignatius J., Kaariainen H. (2004). Childhood-onset osteoarthritis, tall stature and sensoneural hearing loss associated with Arg75-cys mutation in procollagen type II gene (COL2A1). Arthritis Rheum 51, 925-932.
12. Mabuchi A., Manabe N., Haga N., Kitoh H., Ikeda T., Kawaji H., Tamai K., Hamada J., Nakamura S., Brunetti-Pierri N., Kimizuka M., Takatori Y., Nakamura K., Nishimura G., Ohashi H., Ikegawa S. (2003). Novel types of COMP mutations and genotype-phenotypes association in pseudochondroplasia and multiple epiphyseal dysplasia. Hum Genet 112, 84-90.
13. MacGreger A.J., Antoniades L., Matson M., Andrew T., Spector T.D. (2000). The genetic contribution to radiographic hip osteoarthritis in women: results of a classic twin study. Arthritis Rheum 43, 2410-2416.
14. Meulenbelt I., Bijkerk C., De Wildt S.C., Miedema H.S., Breedveld F.C., Pols H.A., Hofman A., Van Duijn C.M., Slagboom P.E. (1999). Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalized radiological osteoarthritis. Ann Hum Genet 63, 393-400.
15. Meulenbelt I., Bijkerk C., Miedema H.S., Breedveld F.C., Hofman A., Valkenburg H.A., Pols H.A., Slagboom P.E., van Duijn C.M. (1998). A genetic association study of the IGF-1 gene and radiological osteoarthritis in a population-based cohort study (the Rotterdam Study). Ann Rheum Dis 57, 371-374.
16. Mu S.C., Liu H.C., Wu J.Y., Lee M.T., Chuang H.P., Chen L.K., Chen Y.T. (2009). A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene. Rheumatol 48, 371-374.
17. Pan W.H., Fann C.S., Wu J.Y., Hung Y.T., Ho M.S., Tai T.H., Chen Y.J., Liao C.J., Yang M.L., Cheng A.T., Chen Y.T. (2006). Han Chinese cell and genome bank in Taiwan: purpose, design and ethical considerations. Hum Hered 61, 27-30.
18. Poole A.R. (1999). An introduction to the pathophysiology ofosteoarthritis. Front Biosci 4, 662-670.
19. Posey K.L., Hecht J.T. (2008). The role of cartilage oligomeric matrix protein (COMP) in skeletal disease. Curr Drug Targets 9, 869-877.
20. Rivtaniemi P., Korkko J., Bonaventure J., Vikkula M., Hyland J., Paasilta P. (1995) Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis. Arthritis Rheum 38, 999-1004.
21. Spector T.D., Cicuttini F., Baker J., Loughlin J., Hart D. (1996). Genetic influences on osteoarthritis in women: a twin study. BMJ 312, 940-943.
22. Ushiyama T., Ueyama H., Inoue K., Nishioka J., Ohkubo I., Hukuda S. (1998). Estrogen receptor gene polymorphism and generalized osteoarthritis. J Rheumatol 25, 134-137.
23. Uitterlinden A.G., Burger H., van Duijn C.M., Huang Q., Hofman A., Birkenhager J.C., van Leeuwen J.P., Pols H.A. (2000). Adjacent genes, for COL2A1 and the vitamin D receptor, are associated with separate features of radiographic osteoarthritis of the knee. Arthritis Rheum 43, 1456-1464.
24. Williams C.J., Rock M., Considine E., McCarron S., Gow P., Ladda R., McLain D., Michels V.M., Murphy W., Prockop D.J. (1995). Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the CoL2A1 arg519-to-cys base substitution using conformation sensitive gel electrophoresis. Hum Mol Genet 4, 309-312.
25. Yamada Y., Okuizumi H., Miyauchi A., Takagi Y., Ikeda K., Harada A. (2000). Association of transforming growth factor beta1 genotype with spinal osteophytosis in Japanese women. Arthritis Rheum 43, 452-460.