Top

Journal of Orthopaedic Science

Published in:

01-09-2013 | Original Article

The D-repeat polymorphism in the ASPN gene and primary knee osteoarthritis in a Mexican mestizo population: a case–control study

Authors: R. D. Arellano, F. Hernández, C. A. García-Sepúlveda, V. M. Velasco, C. R. Loera, J. R. Arguello

Published in: Journal of Orthopaedic Science | Issue 5/2013

Abstract

Background

A genetic association between osteoarthritis (OA) and a polymorphism in the aspartic acid (D) repeat of the asporin (ASPN) gene has been reported in Japanese, Han Chinese, Greek and UK Caucasian populations of patients having knee and hip OA. Such an association has not been previously described among the Mexican mestizo population. The aim of this study was to analyze the association of the ASPN gene D-repeat polymorphism in a Mexican mestizo population with primary knee OA as well as in healthy controls.

Materials and methods

A case–control study was conducted on a Mexican mestizo population of northern Mexico. The repeat polymorphism was genotyped in 440 subjects (218 cases and 222 healthy controls). Primary knee OA was diagnosed according to American College of Rheumatology and Kellgren-Lawrence criteria, and allelic association was examined adjusting for other risk variables.

Results

After adjusting for some covariates, menopause and the D16 allele showed a trend toward being risk factors for knee OA in a Mexican mestizo population. Also, the D12 allele could be considered as a protective factor.

Conclusions

These findings suggest that polymorphisms within the ASPN gene could influence knee OA susceptibility, but these associations must be confirmed by independent studies in larger samples and different ethnic groups to support the role of the D-repeat polymorphism in the ASPN gene as risk or protection factors for knee OA in a Mexican population.

Felson DT, Lawrence RC, Dieppe PA, Hirsch R, Helmick CG, Jordan JM, Kington RS, Lane NE, Nevitt MC, Zhang Y, Sowers M, McAlindon T, Spector TD, Poole AR, Yanovski SZ, Ateshian G, Sharma L, Buckwalter JA, Brandt KD, Fries JF. Osteoarthritis: new insights. Part 1: the disease and its risk factors. Ann Intern Med. 2000;133:635–46.PubMedCrossRef

Spector TD, Cicuttini F, Baker J, Loughlin J, Hart D. Genetic influences on osteoarthritis in women: a twin study. BMJ. 1996;312:940–3.PubMedCrossRef

Bijkerk C, Houwing-Duistermaat JJ, Valkenburg HA, Meulenbelt I, Hofman A, Breedveld FC, Huibert A, Pols P, Van Duijn CM, Eline Slagboom P. Heritabilities of radiologic osteoarthritis in peripheral joints and of disc degeneration of the spine. Arthr Rheum. 1999;42:1729–35.CrossRef

Hirsch R, Lethbridge-Cejku M, Hanson R, Scott WW Jr, Reichle R, Plato CC, Tobin Jordan D, Hochberg MC. Familial aggregation of osteoarthritis: data from the Baltimore longitudinal study on aging. Arthr Rheum. 1998;41:1227–32.CrossRef

Sakao K, Takahashi KA, Arai Y, Saito M, Honjyo K, Hiraoka N, Kishida T, Mazda O, Imanishi J, Kubo T. Asporin and transforming growth factor-beta gene expression in osteoblasts from subchondral bone and osteophytes in osteoarthritis. J Orthop Sci. 2009;14:738–47.PubMedCrossRef

Gill MR, Oldberg A, Reinholt FP. Fibromodulin-null murine knee joints display increased incidences of osteoarthritis and alterations in tissue biochemistry. Osteoarthr Cartil. 2002;10:751–7.PubMedCrossRef

Kizawa H, Kou I, Iida A, Sudo A, Miyamoto Y, Fukuda A, Mabuchi A, Kotani A, Kawakami A, Yamamoto S, Uchida A, Nakamura K, Notoya K, Nakamura Y, Ikegawa S. An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nat Genet. 2005;37:138–44.PubMedCrossRef

Jiang Q, Shi D, Yi L, Ikegawa S, Wang Y, Nakamura T, Qiao D, Liu C, Dai J. Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese. J Hum Genet. 2006;51:1068–72.PubMedCrossRef

Kaliakatsos M, Tzetis M, Kanavakis E, Fytili P, Chouliaras G, Karachalios T, Malizos K, Tsezou A. Asporin and knee osteoarthritis in patients of Greek origin. Osteoarthr Cartil. 2006;14:609–11.PubMedCrossRef

10.

Mustafa Z, Dowling B, Chapman K, Sinsheimer JS, Carr A, Loughlin J. Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population. Arthr Rheum. 2005;52:3502–6.CrossRef

11.

Nakamura T, Shi D, Tzetis M, Rodriguez-Lopez J, Miyamoto Y, Tsezou A, Gonzalez A, Jiang Q, Kamatani N, Loughlin J, Ikegawa S. Meta-analysis of association between the ASPN D-repeat and osteoarthritis. Hum Mol Genet. 2007;16:1676–81.PubMedCrossRef

12.

Rodriguez-Amado J, Pelaez-Ballestas I, Sanin LH, Esquivel-Valerio JA, Burgos-Vargas R, Perez-Barbosa L, Riega-Torres J, Garza-Elizondo MA. Epidemiology of rheumatic diseases. A community-based study in urban and rural populations in the state of Nuevo Leon, Mexico. J Rheumatol Suppl. 2011;86:9–14.PubMedCrossRef

13.

Nakajima M, Kizawa H, Saitoh M, Kou I, Miyazono K, Ikegawa S. Mechanisms for asporin function and regulation in articular cartilage. J Biol Chem. 2007;282:32185–92.PubMedCrossRef

14.

Lorenzo P, Aspberg A, Onnerfjord P, Bayliss MT, Neame PJ, Heinegard D. Identification and characterization of asporin. a novel member of the leucine-rich repeat protein family closely related to decorin and biglycan. J Biol Chem. 2001;276:12201–11.PubMedCrossRef

15.

Kou I, Nakajima M, Ikegawa S. Binding characteristics of the osteoarthritis-associated protein asporin. J Bone Miner Metab. 2010;28:395–402.PubMedCrossRef

16.

Altman R, Alarcon G, Appelrouth D, Bloch D, Borenstein D, Brandt K, Brown C, Cooke TD, Daniel W, Gray R. The American College of Rheumatology criteria for the classification and reporting of osteoarthritis of the hand. Arthr Rheum. 1990;33:1601–10.CrossRef

17.

Altman R, Asch E, Bloch D, Bole G, Borenstein D, Brandt K, Christy W, Cooke TD, Greenwald R, Hochberg M. Development of criteria for the classification and reporting of osteoarthritis. Classification of osteoarthritis of the knee. Diagnostic and Therapeutic Criteria Committee of the American Rheumatism Association. Arthr Rheum. 1986;29:1039–49.CrossRef

18.

Altman R, Alarcon G, Appelrouth D, Bloch D, Borenstein D, Brandt K, Brown C, Cooke TD, Daniel W, Feldman D. The American College of Rheumatology criteria for the classification and reporting of osteoarthritis of the hip. Arthr Rheum. 1991;34:505–14.CrossRef

19.

Kellgren JH, Lawrence JS. Radiological assessment of osteoarthrosis. Ann Rheum Dis. 1957;16:494–502.PubMedCrossRef

20.

Iqbal MN, Haidri FR, Motiani B, Mannan A. Frequency of factors associated with knee osteoarthritis. J Pak Med Assoc. 2011;61:786–9.PubMed

21.

Spector TD, MacGregor AJ. Risk factors for osteoarthritis: genetics. Osteoarthr Cartil. 2004;12(Suppl A):S39–44.PubMedCrossRef

22.

Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.PubMedCrossRef

23.

Torres B, Orozco G, Garcia-Lozano JR, Oliver J, Fernandez O, Gonzalez-Gay MA, Balsa A, García A, Pascual-Salcedo D, López-Nevot MA, Núñez-Roldán A, Martín J, González-Escribano MF. Asporin repeat polymorphism in rheumatoid arthritis. Ann Rheum Dis. 2007;66:118–20.PubMedCrossRef

24.

Atif U, Philip A, Aponte J, Woldu EM, Brady S, Kraus VB, Jordan JM, Doherty M, Wilson AG, Moskowitz RW, Hochberg M, Loeser R, Renner JB, Chiano M. Absence of association of asporin polymorphisms and osteoarthritis susceptibility in US Caucasians. Osteoarthr Cartil. 2008;16:1174–7.PubMedCrossRef

Title: The D-repeat polymorphism in the ASPN gene and primary knee osteoarthritis in a Mexican mestizo population: a case–control study
Authors: R. D. Arellano
F. Hernández
C. A. García-Sepúlveda
V. M. Velasco
C. R. Loera
J. R. Arguello
Publication date: 01-09-2013
Publisher: Springer Japan
Published in: Journal of Orthopaedic Science / Issue 5/2013
Print ISSN: 0949-2658
Electronic ISSN: 1436-2023
DOI: https://doi.org/10.1007/s00776-013-0414-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

The D-repeat polymorphism in the ASPN gene and primary knee osteoarthritis in a Mexican mestizo population: a case–control study

Abstract

Background

Materials and methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Materials and methods

Results

Conclusions

Please log in to get access to this content

Other articles of this Issue 5/2013

Biomechanical strain characteristics of soft tissue biceps tenodesis and bony tenodesis

The natural clinical course of lumbar spinal stenosis: a longitudinal cohort study over a minimum of 10 years

Fascia iliaca compartment block: its efficacy in pain control for patients with proximal femoral fracture

Improvement of atelectasis after corrective fusion for lordoscoliosis with intrathoracic vertebral protrusion in arthrogryposis multiplex congenita: efficacy of positive-pressure ventilation test

Early diagnosis of impending femoral insufficiency fractures by use of MRI: case report and review of the literature

Overview of medical device regulation in Japan as it relates to orthopedic devices