The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis

Jakkula, Eveliina; Melkoniemi, Miia; Kiviranta, Ilkka; Lohiniva, Jaana; Räinä, S. S.; Perälä, Merja; Warman, Matthew L.; Ahonen, K.; Kröger, Heikki; Göring, Harald H.H.; Ala‐Kokko, Leena

doi:10.1016/j.joca.2005.02.005

Cited by 58 publications

(51 citation statements)

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“…Further evidence for this conclusion is apparent in the Cho mice, which exhibit excess mineralization in the long bones (Seegmiller et al, 1971;Li et al, 1995). Sequence variations in the Col11a1 gene are also associated with osteoarthritis, early-onset osteoarthritis, degenerative lumbar spinal stenosis and cleft palate (Melkoniemi et al, 2003;Noponen-Hietala et al, 2003;Rodriguez et al, 2004;Jakkula et al, 2005). Its association with a variety of common diseases makes Col11a1 an important target for musculoskeletal disease research.…”

Section: Discussionmentioning

confidence: 98%

“…Type II Stickler syndrome patients have similar symptoms but are of near normal height and exhibit no bony overgrowths . Both syndromes occasionally present with cleft palate and patients frequently develop early osteoarthritis (Olsen, 1995;Snead and Yates, 1999;Rodriguez et al, 2004;Jakkula et al, 2005). Whether Marshall and Stickler syndromes are variants of the same disease or separate syndromes is controversial, but it is apparent that they are very similar and many patients display symptoms of both diseases (Winter et al, 1983;Ayme and Preus, 1984;Stratton et al, 1991;Annunen et al, 1999).…”

Section: Introductionmentioning

confidence: 99%

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Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation

et al. 2008

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Section: Discussionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation

et al. 2008

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“…6 There is no convincing evidence yet that these genes are implicated in the susceptibility for primary early-onset OA occurring without dysplasia. 4,6,7 Linkage and association studies on the basis of joint-or sex-specific OA definitions have yielded several loci associated with common OA susceptibility including MATN3, 8,9 FRZB, 10 -12 IL4R, 13 ASPN 14 and CALM1. 15 Previously, we mapped a locus for early-onset osteoarthritis (familial OA, FOA) in seven families to 2q33.3 -2q34.…”

Section: Introductionmentioning

confidence: 99%

Mutation analysis of candidate genes within the 2q33.3 linkage area for familial early-onset generalised osteoarthritis

et al. 2007

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In a genome-wide linkage scan of seven families with familial early-onset osteoarthritis (FOA), we mapped a FOA locus to a 5 cM region on chromosome 2q33.3 -2q34 with a maximum LOD score of 6.05. To identify causal variants, 17 positional candidate genes and FRZB were sequenced for coding, splice sites, and 5 0 and 3 0 untranslated regions. The pathogenicity of possible disease-causing variants was evaluated using predicted effects on protein structure and function, splicing enhancers, degree of conservation and frequency in 790 unrelated subjects from the population-based Rotterdam study scored for the presence of radiographic signs of OA (ROA). Nine novel variants, identified in NRP2, XM_371590, ADAM23, IDH1, PIP5K3 and PTHR2, cosegregated with FOA, of which two were promising. IDH1 Y183C cosegregated in one family, involved a conserved amino-acid change and showed a damaging effect predicted by PolyPhen and SIFT. In the Rotterdam sample, carriers of IDH1 Y183C (0.02) had an increased but insignificant risk for generalised ROA. The second variant, NRP2 c.1938-21T4C cosegregated in three families. In the Rotterdam sample, carriers conferred an increased risk of 2.1 (95% confidence interval, 1.1 -4.1, P ¼ 0.032) to have generalised ROA. Furthermore, two variants (NRP2 c.1938-21T4C and IDH1 c.933-28C4T) occurred together on the haplotypes segregating with FOA in two out seven families. This haplotype was rare in the Rotterdam sample (0.0013). Two promising variants in or near NRP2 and IDH1 may not be sufficient for the onset of FOA alone but might have a modulating role with FOA. Confirmation in other OA populations is required.

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“…COL2A1 is in close physical proximity to the vitamin D receptor gene (VDR); however, a group of Dutch investigators showed that both VDR and COL2A1 influence the risk of knee OA in a manner that is not attributable to linkage disequilibrium between the 2 genes (27). Other investigators failed to identify any such association in populations in the US (28) and Finland (29).…”

mentioning

confidence: 98%

Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee

Valdes

Loughlin

Oene

et al. 2007

Arthritis & Rheumatism

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Objective. To assess whether the association of genetic polymorphisms with osteoarthritis (OA) in other populations could be replicated in a large, multicenter, mixed-sex, case-control study of clinical knee OA.Methods. Genetic polymorphisms in OA candidate genes were genotyped in 298 men and 305 women, ages 50-86 years, all of whom had a diagnosis of knee OA as assessed clinically and radiographically, and in 300 male and 299 female control subjects matched for age and ethnicity. Allele and haplotype frequencies for 5 genes (ASPN, CALM1, COL2A1, COMP, and FRZB) previously tested for association with hip and/or knee OA in other populations were compared between patients and control subjects, analyzing men and women separately.Results. The same FRZB 2-marker single-nucleotide polymorphism (SNP) haplotype associated with hip OA in other populations of Caucasian women was shown to increase the risk of knee OA among the women (but not the men) in the current study (odds ratio [OR] 2.87, P < 0.04). The CALM1 SNP, which affects the risk of hip OA in Japanese individuals, was not shown to be associated with susceptibility to OA in men or women. COL2A1 haplotypes were demonstrated to be associated with a decreased risk of knee OA in men (OR 0.68, P < 0.005) but not in women. COMP haplotypes that were associated with susceptibility to knee OA were different in men and women (P < 0.014 and P < 0.032, respectively). A meta-analysis of these data and those from previously published reports indicated a strong association between the FRZB G324 allele (P < 0.0003) and suggested that an ASPN allele is protective against the risk of knee OA in Caucasians (P < 0.02).Conclusion. Our results indicate that genetic polymorphisms affecting knee OA vary between populations (Japanese versus Caucasian) and sexes and indicate a role for ASPN, COMP, FRZB, and COL2A1 in Caucasians.

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The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis

Cited by 58 publications

References 59 publications

Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation

Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation

Mutation analysis of candidate genes within the 2q33.3 linkage area for familial early-onset generalised osteoarthritis

Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee

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