Skip to main content
Erschienen in: Rheumatology International 8/2011

01.08.2011 | Original Article

Lack of evidence for association of two functional SNPs of CHI3L1 gene (HC-gp39) with rheumatoid arthritis

verfasst von: Sanjeev K. Srivastava, Péter Antal, János Gál, Gábor Hullám, Ágnes F. Semsei, György Nagy, András Falus, Edit I. Buzás

Erschienen in: Rheumatology International | Ausgabe 8/2011

Einloggen, um Zugang zu erhalten

Abstract

CHI3L1 gene encodes for a glycoprotein (HC-gp39 or YKL40) secreted by synovial fibroblasts, macrophages, neutrophil granulocytes and chondrocytes. Its expression is under the control of NF-kB. It is regarded as an acute phase protein, and its levels are significantly elevated in rheumatic diseases. Furthermore, HC-gp39 has been shown to be recognized by autoreactive T cells in rheumatoid arthritis. In the present study, we have examined two functional variants of the promoter region of CHI3L1 gene (CHI3L1-1 (rs4950928) and CHI3L1-2 (rs10399931) that have been reported earlier to be associated with schizophrenia and sarcoidosis. We used TaqMan allelic discrimination assays to study the genotypes of Hungarian patients with rheumatoid arthritis (n = 182) and of healthy controls (n = 194). No significant association of the investigated SNPs with the disease was found. Here we report that CHI3L1 SNPs, shown to be involved in the predisposition of schizophrenia, are not associated with rheumatoid arthritis.
Literatur
2.
Zurück zum Zitat Lorentzen JC, Flornes L, Eklow C, Backdahl L, Ribbhammar U, Guo JP (2007) Association of arthritis with a gene complex encoding C-type lectin-like receptors. Arthritis Rheum 56:2620–2632. doi:10.1002/art.22813 PubMedCrossRef Lorentzen JC, Flornes L, Eklow C, Backdahl L, Ribbhammar U, Guo JP (2007) Association of arthritis with a gene complex encoding C-type lectin-like receptors. Arthritis Rheum 56:2620–2632. doi:10.​1002/​art.​22813 PubMedCrossRef
4.
Zurück zum Zitat Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC (2004) A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 75:330–337. doi:10.1086/422827 PubMedCrossRef Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC (2004) A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 75:330–337. doi:10.​1086/​422827 PubMedCrossRef
5.
Zurück zum Zitat Orozco G, Sanchez E, Gonzalez-Gay MA, Lopez-Nevot MA, Torres B, Caliz RA (2005) Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 52:219–224. doi:10.1002/art.20771 Orozco G, Sanchez E, Gonzalez-Gay MA, Lopez-Nevot MA, Torres B, Caliz RA (2005) Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 52:219–224. doi:10.​1002/​art.​20771
7.
8.
Zurück zum Zitat Lee HS, Remmers EF, Le JM, Kastner DL, Bae SC, Gregersen PK (2007) Association of STAT4 with rheumatoid arthritis in the Korean population. Mol Med 13:455–460. doi:10.2119/2007-00072 PubMed Lee HS, Remmers EF, Le JM, Kastner DL, Bae SC, Gregersen PK (2007) Association of STAT4 with rheumatoid arthritis in the Korean population. Mol Med 13:455–460. doi:10.​2119/​2007-00072 PubMed
9.
Zurück zum Zitat Orozco G, Alizadeh BZ, Delgado-Vega AM, Gonzalez-Gay MA, Balsa A, Pascual-Salcedo D (2008) Association of STAT4 gene with rheumatoid arthritis: a replication study in three European populations. Arthritis Rheum 58:1974–1980. doi:10.1002/art.23549 PubMedCrossRef Orozco G, Alizadeh BZ, Delgado-Vega AM, Gonzalez-Gay MA, Balsa A, Pascual-Salcedo D (2008) Association of STAT4 gene with rheumatoid arthritis: a replication study in three European populations. Arthritis Rheum 58:1974–1980. doi:10.​1002/​art.​23549 PubMedCrossRef
11.
12.
14.
Zurück zum Zitat Kroot E, Van Leeuwen MA, Van Rijswijk MH, Prevoo M, Van‘t Hof M, Van de Putte LBA, Van Riel PLC (2000) No increased mortality in patients with rheumatoid arthritis: up to 10 years of follow up from disease onset. Ann Rheum Dis 59:954–958. doi:10.1136/ard.59.12.954 PubMedCrossRef Kroot E, Van Leeuwen MA, Van Rijswijk MH, Prevoo M, Van‘t Hof M, Van de Putte LBA, Van Riel PLC (2000) No increased mortality in patients with rheumatoid arthritis: up to 10 years of follow up from disease onset. Ann Rheum Dis 59:954–958. doi:10.​1136/​ard.​59.​12.​954 PubMedCrossRef
15.
Zurück zum Zitat Yamada K, Hattori E, Iwayama Y, Toyota T, Ohnishi T, Iwata Y, Tsuchiya KJ, Sugihara G, Kikuchi M, Okazaki Y, Yoshikawa T (2009) Failure to confirm genetic association of the CHI3L1 gene with schizophrenia in Japanese and Chinese populations. Am J Med Genet B Neuropsychiatr Genet 150B(4):508–514. doi:10.1002/ajmg.b.30847 Yamada K, Hattori E, Iwayama Y, Toyota T, Ohnishi T, Iwata Y, Tsuchiya KJ, Sugihara G, Kikuchi M, Okazaki Y, Yoshikawa T (2009) Failure to confirm genetic association of the CHI3L1 gene with schizophrenia in Japanese and Chinese populations. Am J Med Genet B Neuropsychiatr Genet 150B(4):508–514. doi:10.​1002/​ajmg.​b.​30847
16.
Zurück zum Zitat Nyirkos P, Golds EE (1990) Human synovial cells secrete a 39 kDa protein similar to a bovine mammary protein expressed during the non-lactating period. Biochem J 269:265–268PubMed Nyirkos P, Golds EE (1990) Human synovial cells secrete a 39 kDa protein similar to a bovine mammary protein expressed during the non-lactating period. Biochem J 269:265–268PubMed
17.
Zurück zum Zitat Hakala BE, White C, Recklies AD (1993) Human cartilage gp-39, a major secretory product of articular chondrocytes and synovial fluid cells, is a mammalian member of a chitinase protein family. J Biol Chem 268:25803–25810PubMed Hakala BE, White C, Recklies AD (1993) Human cartilage gp-39, a major secretory product of articular chondrocytes and synovial fluid cells, is a mammalian member of a chitinase protein family. J Biol Chem 268:25803–25810PubMed
19.
Zurück zum Zitat Connor J, Dodds R, Emery J, Kirkpatrick R, Rosenberg M, Gowen M. (2000) Human cartilage glycoprotein 39 (HC gp-39) mRNA expression in adult and fetal chondrocytes, osteoblasts and osteocytes by in-situ hybridization. Osteoarthr Cartil 8:87–95. doi:10.1053/joca.1999.0276 Connor J, Dodds R, Emery J, Kirkpatrick R, Rosenberg M, Gowen M. (2000) Human cartilage glycoprotein 39 (HC gp-39) mRNA expression in adult and fetal chondrocytes, osteoblasts and osteocytes by in-situ hybridization. Osteoarthr Cartil 8:87–95. doi:10.​1053/​joca.​1999.​0276
20.
Zurück zum Zitat Verheijden GF, Rijnders AW, Bos E, Coenen-de Roo CJJ, van Staveren CJ, Miltenburg AM (1997) Human cartilage glycoprotein-39 as a candidate autoantigen in rheumatoid arthritis. Arthritis Rheum 40:1115–1125. doi:10.1002/1529-0131(199706) Verheijden GF, Rijnders AW, Bos E, Coenen-de Roo CJJ, van Staveren CJ, Miltenburg AM (1997) Human cartilage glycoprotein-39 as a candidate autoantigen in rheumatoid arthritis. Arthritis Rheum 40:1115–1125. doi:10.​1002/​1529-0131(199706)
21.
Zurück zum Zitat Vos K, Steenbakkers P, Miltenburg A, Bos E, Van den Heuve M, Van Hogezand R, De Vries R, Breedveld F, Boots A (2000) Raised human cartilage glycoprotein-39 plasma levels in patients with rheumatoid arthritis and other inflammatory conditions. Ann Rheum Dis 59:544–548. doi:10.1136/ard.59.7.544 PubMedCrossRef Vos K, Steenbakkers P, Miltenburg A, Bos E, Van den Heuve M, Van Hogezand R, De Vries R, Breedveld F, Boots A (2000) Raised human cartilage glycoprotein-39 plasma levels in patients with rheumatoid arthritis and other inflammatory conditions. Ann Rheum Dis 59:544–548. doi:10.​1136/​ard.​59.​7.​544 PubMedCrossRef
22.
Zurück zum Zitat Johansen JS, Jensen HS, Price PA (1993) A new biochemical marker for joint injury. Analysis of YKL-40 in serum and synovial fluid. Br J Rheumatol 32:949–955PubMedCrossRef Johansen JS, Jensen HS, Price PA (1993) A new biochemical marker for joint injury. Analysis of YKL-40 in serum and synovial fluid. Br J Rheumatol 32:949–955PubMedCrossRef
23.
Zurück zum Zitat Johansen JS, Hvolris J, Hansen M, Backer V, Lorenzen I, Price PA (1996) Serum YKL-40 levels in healthy children and adults. Comparison with serum and synovial fluid levels of YKL-40 in patients with osteoarthritis or trauma of the knee joint. Br J Rheumatol 35:553–559PubMedCrossRef Johansen JS, Hvolris J, Hansen M, Backer V, Lorenzen I, Price PA (1996) Serum YKL-40 levels in healthy children and adults. Comparison with serum and synovial fluid levels of YKL-40 in patients with osteoarthritis or trauma of the knee joint. Br J Rheumatol 35:553–559PubMedCrossRef
24.
Zurück zum Zitat Zhao X, Tang R, Gao B, Shi Y, Zhou J, Guo S, Zhang J, Wang Y, Tang W, Meng J, Li S, Wang H, Ma G, Lin C, Xiao Y, Feng G, Lin Z, Zhu S, Xing Y, Sang H, St Clair D, He L (2007) Functional variants in the promoter region of Chitinase 3-like 1 (CHI3L1) and susceptibility to schizophrenia. Am J Hum Genet 80:12–18. doi:10.1086/510438 Zhao X, Tang R, Gao B, Shi Y, Zhou J, Guo S, Zhang J, Wang Y, Tang W, Meng J, Li S, Wang H, Ma G, Lin C, Xiao Y, Feng G, Lin Z, Zhu S, Xing Y, Sang H, St Clair D, He L (2007) Functional variants in the promoter region of Chitinase 3-like 1 (CHI3L1) and susceptibility to schizophrenia. Am J Hum Genet 80:12–18. doi:10.​1086/​510438
25.
Zurück zum Zitat Kruit A, Grutters J, Ruven H, Moorsel C, Van Den Bosch J (2007) A CHI3L1 gene polymorphism is associated with serum levels of YKL-40, a novel sarcoidosis marker. Respiratory Medicine 101:1563–1571. doi:10.1016/j.rmed.2006.12.006 Kruit A, Grutters J, Ruven H, Moorsel C, Van Den Bosch J (2007) A CHI3L1 gene polymorphism is associated with serum levels of YKL-40, a novel sarcoidosis marker. Respiratory Medicine 101:1563–1571. doi:10.​1016/​j.​rmed.​2006.​12.​006
26.
Zurück zum Zitat Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS (1988) The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 31:315–324PubMedCrossRef Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS (1988) The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 31:315–324PubMedCrossRef
27.
Zurück zum Zitat Wigginton JE, Cutler DJ, Abecasis GR (2005) A note on exact tests of Hardy–Weinberg equilibrium. Am J Hum Genet 76:887–893. doi:10.1086/429864 Wigginton JE, Cutler DJ, Abecasis GR (2005) A note on exact tests of Hardy–Weinberg equilibrium. Am J Hum Genet 76:887–893. doi:10.​1086/​429864
28.
Zurück zum Zitat Ling H, Recklies AD (2004) The chitinase 3-like protein human cartilage glycoprotein 39 inhibits cellular responses to the inflammatory cytokines interleukin-1 and tumour necrosis factor-alpha. Biochem J 380:651–659. doi:10.1042/BJ20040099 Ling H, Recklies AD (2004) The chitinase 3-like protein human cartilage glycoprotein 39 inhibits cellular responses to the inflammatory cytokines interleukin-1 and tumour necrosis factor-alpha. Biochem J 380:651–659. doi:10.​1042/​BJ20040099
29.
Zurück zum Zitat Ober C, Tan Z, Sun Y, Possick JD, Pan L, Nicolae R, Radford S, Parry RR, Heinzmann A, Deichmann KA, Lester LA, Gern JE, Lemanske RF Jr, Nicolae DL, Elias JA, Chupp GL (2008) Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function. N Engl J Med 358:1682–1691. doi:10.1056/NEJMoa0708801 Ober C, Tan Z, Sun Y, Possick JD, Pan L, Nicolae R, Radford S, Parry RR, Heinzmann A, Deichmann KA, Lester LA, Gern JE, Lemanske RF Jr, Nicolae DL, Elias JA, Chupp GL (2008) Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function. N Engl J Med 358:1682–1691. doi:10.​1056/​NEJMoa0708801
Metadaten
Titel
Lack of evidence for association of two functional SNPs of CHI3L1 gene (HC-gp39) with rheumatoid arthritis
verfasst von
Sanjeev K. Srivastava
Péter Antal
János Gál
Gábor Hullám
Ágnes F. Semsei
György Nagy
András Falus
Edit I. Buzás
Publikationsdatum
01.08.2011
Verlag
Springer-Verlag
Erschienen in
Rheumatology International / Ausgabe 8/2011
Print ISSN: 0172-8172
Elektronische ISSN: 1437-160X
DOI
https://doi.org/10.1007/s00296-010-1396-3

Weitere Artikel der Ausgabe 8/2011

Rheumatology International 8/2011 Zur Ausgabe

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.