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Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand.

ABSTRACT: BACKGROUND: Seven polymorphisms in the matrilin-3(MATN3) gene were previously tested for genetic association with hand osteoarthritis in an Icelandic cohort. One of the variants, involving a conserved amino acid substitution (T303M; SNP5), was related to idiopathic hand osteoarthritis. OBJECTIVES: To investigate SNP5 and two other promising polymorphisms (rs2242190; SNP3, rs8176070; SNP6) for association with radiographic and symptomatic hand osteoarthritis phenotypes, as well as other heritable phenotypes. METHODS: Polymorphisms were examined in two distinct cohorts of subjects: a population based sample from the Rotterdam study (n = 809), and affected siblings from the genetics, osteoarthrosis and progression (GARP) study (n = 382). RESULTS: The originally described association of T303M with the hand osteoarthritis phenotype was not observed in the populations studied. In the Rotterdam sample, however, carrying the T allele of T303M conferred an odds ratio of 2.9 (95% confidence interval (CI), 1.2 to 7.3; p = 0.02) for spinal disc degeneration. In the GARP study, carriers of the A allele of SNP6 had an odds ratio of 2.0 (95% CI, 1.3 to 3.1, p = 0.004) for osteoarthritis of the first carpometacarpal joint (CMC1) as compared with the Rotterdam sample as a control group. Subsequent haplotype analysis showed that a common haplotype, containing the risk allele of SNP6, conferred a significant risk in sibling pairs with CMC1 osteoarthritis (odds ratio = 1.7 (95% CI, 1.1 to 2.7, p = 0.02)). CONCLUSIONS: These associations suggest that the MATN3 region also determines susceptibility to spinal disc degeneration and CMC1 osteoarthritis.

SUBMITTER: Min JL

PROVIDER: S-EPMC1798238 | biostudies-literature | 2006 Aug

REPOSITORIES: biostudies-literature

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Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand.

Min J L JL Meulenbelt I I Riyazi N N Kloppenburg M M Houwing-Duistermaat J J JJ Seymour A B AB van Duijn C M CM Slagboom P E PE

Annals of the rheumatic diseases 20060105 8

<h4>Background</h4>Seven polymorphisms in the matrilin-3(MATN3) gene were previously tested for genetic association with hand osteoarthritis in an Icelandic cohort. One of the variants, involving a conserved amino acid substitution (T303M; SNP5), was related to idiopathic hand osteoarthritis.<h4>Objectives</h4>To investigate SNP5 and two other promising polymorphisms (rs2242190; SNP3, rs8176070; SNP6) for association with radiographic and symptomatic hand osteoarthritis phenotypes, as well as ot ...[more]

PMID: 16396979

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Project description:Background:Thumb carpometacarpal (first CMC) osteoarthritis (OA), a degenerative process affecting hand use, is typically assessed by clinical examination and radiographs. This assessment determines treatment, but it may not reflect functional limitations. Questions/Purposes:We aimed to explore the relationship between measures of hand function and radiographs in individuals with and without first CMC OA. Methods:We designed a cross-sectional, observational pilot study, enrolling five patients with first CMC OA (nine thumbs with modified Eaton-Littler grades ranging from 1 to 4, using retrospective radiographic data) and nine healthy controls. They underwent evaluation of hand function using four patient-reported outcome measures (PROMs)-the Patient-Specific Functional Scale (PSFS); the Patient-Rated Wrist/Hand Evaluation (PRWHE); the Disabilities of the Arm, Shoulder, and Hand (DASH); and the Modified Score for the Assessment and Quantification of Chronic Rheumatoid Affections of the Hands (M-SACRAH)-and one performance measure, the Arthritis Hand Function Test (AHFT). Spearman's ? with 95% subject clustered bootstrapped confidence intervals was calculated to assess for correlations between radiographic findings and measures of hand function. Results:Only the DASH work score showed strong positive correlation with radiographic OA grade, with PSFS, PRWHE, M-SACRAH, and AHFT scores demonstrating low to moderate correlations. Notable differences were found between patients and control subjects in median scores of the DASH, PSFS, PRWHE, and M-SACRAH, as well as in the grip, pinch, and button scores of the AHFT. Conclusion:While only the DASH work score strongly correlated with radiographic grade of first CMC OA, several measures detected considerable differences in functional hand use between patients and control subjects. The findings of this pilot study suggest that hand function scores be considered in addition to radiographs when determining severity of first CMC OA. The findings can also inform the design of a larger, powered study.

Project description:Background contextDisc degeneration (DD) is a multifaceted chronic process that alters the structure and function of the intervertebral discs and can lead to painful conditions. The pathophysiology of degeneration is not well understood, but previous studies suggest that certain genetic polymorphisms may be important contributing factors leading to an increased risk of DD.PurposeTo review the genetic factors in DD with a focus on polymorphisms and their putative role in the pathophysiology of degeneration. Elucidating the genetic components that are associated with degeneration could provide insights into the mechanism of the process. Furthermore, defining these relationships and eventually using them in a clinical setting may allow an identification and early intervention for those who are at a high risk for painful DD.Study designLiterature review.MethodsThis literature review focused on the studies concerning genetic polymorphisms and their associations with DD.ResultsGenetic polymorphisms in 20 genes have been analyzed in association with DD, including vitamin D receptor, growth differentiation factor 5 (GDF5), aggrecan, collagen Types I, IX, and XI, fibronectin, hyaluronan and proteoglycan link protein 1 (HAPLN1), thrombospondin, cartilage intermediate layer protein (CILP), asporin, MMP1, 2, and 3, parkinson protein 2, E3 ubiquitin protein ligase (PARK2), proteosome subunit ? type 9 (PSMB9), tissue inhibitor of metalloproteinase (TIMP), cyclooxygenase-2 (COX2), and IL1?, IL1?, and IL6. Each genetic polymorphism codes for a protein that has a functional role in the pathogenesis of DD.ConclusionsThere are known associations between several genetic polymorphisms and DD. Of the 20 genes analyzed, polymorphisms in vitamin D receptor, aggrecan, Type IX collagen, asporin, MMP3, IL1, and IL6 show the most promise as functional variants. Genetic studies are crucial for understanding the mechanism of the degeneration. This genetic information could eventually be used as a predictive model for determining a patient's risk for symptomatic DD.

Dataset Information

Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand.

Publications

Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand.

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