Predisposition to Familial Osteoarthrosis Linked to Type Ii Collagen Gene

Palotie, Aarno; Vaïsänen, P.; Ott, Jürg; Ryhänen, Lasse; Elima, Kati; Vikkula, Miikka; Cheah, Kathy; Vuorio, Eero; Peltonen, Leena

doi:10.1016/s0140-6736(89)92507-5

Cited by 141 publications

(52 citation statements)

References 15 publications

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“…Restriction fragment length polymorphisms (RFLPs) have been identified within the coding region of COL2A1 (Vfiis/inen et al, 1988). Palotie et al (1989) have reported a close linkage of COL2A! to familial osteoarthrosis.…”

Section: Resultsmentioning

confidence: 99%

Human type II collagen gene (COL2A1) assigned to chromosome 12q13.1-q13.2 byin situ hybridization with biotinylated DNA probe

Takahashi¹,

Hori²,

Lawrence

et al. 1989

Jap J Human Genet

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SummaryWe have made a regional assignment of the type II collagen gene (COL2A1) on human chromosome 12 by means of an in situ hybridization technique with a biotinylated DNA probe. The precise localization of the signal was mapped to the band 12q13.1-q13.2. This result was in agreement with the previous mapping by isotopic in situ hybridization technique (12q13.1-q13.2), but not with the result of Southern hybridization analysis us!ng somatic cell hybrids (12q14.3).

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Section: Resultsmentioning

confidence: 99%

Human type II collagen gene (COL2A1) assigned to chromosome 12q13.1-q13.2 byin situ hybridization with biotinylated DNA probe

Takahashi¹,

Hori²,

Lawrence

et al. 1989

Jap J Human Genet

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“…The dominant mode of inheritance was assumed, and subjects were grouped into 14 age-dependent risk categories, allowing penetrance for both genetic and nongenetic forms of the phenotype. The calculations were performed with precisely the same assumptions as in our original study (12). The analyses were performed using the MLINK and LINK-MAP options.…”

Section: Methodsmentioning

confidence: 99%

“…In those 2 families, a genetic linkage between the disease and the COL2AI gene was established by using 2 intragenic polymorphisms and 2 flanking polymorphic markers (12). Soon thereafter, in a North American family with OA, the disease was also linked to the COL2Al gene (13).…”

mentioning

confidence: 99%

Early‐onset osteoarthritis linked to the type ii procollagen gene. detailed clinical phenotype and further analyses of the gene

Vikkula

Palotie

Ritvaniemi

et al. 1993

Arthritis & Rheumatism

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Objective. To specify in detail the clinical phenotype in 2 Finnish families demonstrating linkage between the type I1 procollagen gene (COL2A1) and osteoarthritis (OA). We also reevaluated the linkage and screened the exon sequences of the COL2Al gene for mutations.Methods. We used single-stranded conformation polymorphism and denaturing gradient-gel electrophoresis techniques for the analyses.Results. Osteoarthritis (OA) is a very common disease which varies in its manifestations. Although most cases are of limited clinical significance, millions of people world-wide become disabled because of OA. Symptoms of pain, stiffness, and limitation of motion are localized to the affected joints. The end result of the process can be grossly deformed joints. The main radiographic features are narrowing of the joint space indicating loss of cartilage, subchondral bone sclerosis, and osteophyte formation in the margins of the bones. The distal interphalangeal joints, hips, knees, the first metatarsophalangeal joints, and the lower lumbar and cervical vertebrae are most commonly affected. Different subsets of the disease can be identified, according to which joints are affected, but the subsets frequently overlap.In some instances, there is an identifiable cause, such as trauma or congenital malformation, but very often, the etiology remains unknown. OA is not an inevitable result of aging; there are elderly people who have no evidence of the disease. Since familial aggregation is seen, genetic factors may be important, particularly in OA of the hand (1,2).

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“…Similarly as in other complex diseases the early genetic studies in OA focused on rare families and genes known to have a biological role in the development and structure of cartilage (Palotie et al 1989;Ala-Kokko et al 1990;Vikkula et al 1993;Jakkula et al 2005). In the 1990s, the introduction of panels of highly informative microsatellite markers evenly covering the genome allowed hypothesis-free screening with no prior knowledge of the gene functions (Petrukhin et al 1993;Straub et al 1993).…”

Section: Genome-wide Linkage Studiesmentioning

confidence: 99%

“…The genome-wide linkage study approach has been very successful in locating disease-causing genes for monogenic diseases (for example (Kestilä et al 1994;Mäkelä-Bengs et al 1998;Nousiainen et al 2008)). Genes causing rare, familial forms of OA have been identified by genetic linkage studies, which have also revealed novel insight on OA etiology, even though the identified variants have not been significant in predisposing to common forms of OA at the population level (Palotie et al 1989;Ala-Kokko et al 1990;Vikkula et al 1993;Prockop et al 1997;Jakkula et al 2005). In recent years, the knowledge of the human genome has grown substantially.…”

Section: Introductionmentioning

confidence: 99%