The role of sequence variations within the genes encoding collagen II, IX and XI in non- syndromic, early-onset osteoarthritis E. Jakkula, M.D., M. Melkoniemi,

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General Information Osteoarthritis and Cartilage

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The role of sequence variations within the genes encoding collagen II, IX and XI in non- syndromic, early-onset osteoarthritis E. Jakkula, M.D., M. Melkoniemi, M.D., I. Kiviranta, M.D., Ph.D., J. Lohiniva, S.S. Räinä, M.D., Ph.D., M. Perälä, Ph.D., M.L. Warman, M.D., K. Ahonen, M.D., H. Kröger, M.D., Ph.D., H.H.H. Göring, Ph.D., L. Ala-Kokko, M.D., Ph.D. Osteoarthritis and Cartilage Volume 13, Issue 6, Pages 497-507 (June 2005) DOI: 10.1016/j.joca.2005.02.005 Copyright © 2005 OsteoArthritis Research Society International Terms and Conditions

Fig. 1 Family pedigree of the North American family and CSGE analysis of exon 43 in the COL11A2 gene. Black circles (females) and squares (males) indicate individuals with radiologically confirmed OA. The proband is marked with a diagonal arrow. Three alleles were found in exon 43 by CSGE: A, a polymorphic A nucleotide in the CCA codon; B, a polymorphic G nucleotide in the CCG codon; and C, a deletion of A in IVS42−2 and an A nucleotide in the CCA codon. Heteroduplexes generated by these alleles are indicated. Osteoarthritis and Cartilage 2005 13, 497-507DOI: (10.1016/j.joca.2005.02.005) Copyright © 2005 OsteoArthritis Research Society International Terms and Conditions

Fig. 2 Schematic presentation of the locations of the polymorphisms used in the association analysis. The genes are drawn to scale. The location of each polymorphism is indicated by a vertical line. The distance between the polymorphisms is shown above each gene, and the polymorphisms are indicated below each gene (see Table III). *The exact sizes of introns 2 and 4 in COL11A1 were not available but the distance of the first analysed SNP from the 5′-end of the gene was estimated to be over 90kb. Osteoarthritis and Cartilage 2005 13, 497-507DOI: (10.1016/j.joca.2005.02.005) Copyright © 2005 OsteoArthritis Research Society International Terms and Conditions

Fig. 3 Family pedigrees of probands J35 (A), J38 (B) and J64 (C). Black circles (females) and squares (males) indicate individuals with radiologically confirmed OA. The probands are denoted by diagonal arrows, inherited gene alteration by a plus sign (+), and an inherited normal allele by a minus (−) sign. Hatched circles and squares indicate symptomatic individuals without radiological information or evidence of OA. Asymptomatic, non-radiologically examined individuals are indicated by open symbols. A question mark (?) denotes unknown affection status. The ages of the individuals are shown below the symbols. Osteoarthritis and Cartilage 2005 13, 497-507DOI: (10.1016/j.joca.2005.02.005) Copyright © 2005 OsteoArthritis Research Society International Terms and Conditions