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Published in: BMC Musculoskeletal Disorders 1/2017

Open Access 01-12-2017 | Research article

Polymorphism and protein expression of MUTYH gene for risk of rheumatoid arthritis

Authors: Shih-Yin Chen, Hsin-Han Chen, Yu-Chuen Huang, Shih-Ping Liu, Ying-Ju Lin, Sui-Foon Lo, Yuan-Yen Chang, Hui-Wen Lin, Chung-Ming Huang, Fuu-Jen Tsai

Published in: BMC Musculoskeletal Disorders | Issue 1/2017

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Abstract

Background

We have previously described the association between rheumatoid arthritis (RA) prevalence and the two mutY Homolog (E. coli) (MUTYH) SNPs (rs3219463 and rs3219476) among the Taiwanese population. This present study will aim to elucidate whether the SNPs can alter the expression of EGFR in the progression of RA.

Methods

The cohort study included 368 Taiwan’s Han Chinese RA patients and 364 healthy controls. Blood samples collected from the participants were analyzed to determine their serum MUTYH levels and to identify rs3219463 SNP of MUTYH from their genomic DNA.

Results

Our data resulted in a statistically significant difference in genotype frequency distributions at rs3219463 for RA patients and controls (p < 0.0002). Also, the patients with G carrier at rs3219463 were less likely to suffer from painful joints (p < 0.006) and DAS28 scores (p < 0.003). Furthermore, the increase in serum level of MUTYH was also observed in RA patients (p < 0.005).

Conclusions

Our study showed that RA is associated with rs3219463 SNP in EGFR gene and an increased serum level of the MUTYH protein. These findings suggest MUTYH is worthy of further investigation as a therapeutic target for RA.
Literature
1.
2.
go back to reference Palmer G, Gabay C, Imhof BA. Leukocyte migration to rheumatoid joints: Enzymes take over. Arthritis Rheum. 2006;54:2707–10.CrossRefPubMed Palmer G, Gabay C, Imhof BA. Leukocyte migration to rheumatoid joints: Enzymes take over. Arthritis Rheum. 2006;54:2707–10.CrossRefPubMed
4.
go back to reference Weyand CM, Bryl E, Goronzy JJ. The role of T cells in rheumatoid arthritis. Arch Immunol Ther Exp (Warsz). 2000;48:429–35. Weyand CM, Bryl E, Goronzy JJ. The role of T cells in rheumatoid arthritis. Arch Immunol Ther Exp (Warsz). 2000;48:429–35.
5.
go back to reference Raza K, Scheel-Toellner D, Lee CY, et al. Synovial fluid leukocyte apoptosis is inhibited in patients with very early rheumatoid arthritis. Arthritis Res Ther. 2006;8:R120.CrossRefPubMedPubMedCentral Raza K, Scheel-Toellner D, Lee CY, et al. Synovial fluid leukocyte apoptosis is inhibited in patients with very early rheumatoid arthritis. Arthritis Res Ther. 2006;8:R120.CrossRefPubMedPubMedCentral
6.
go back to reference Hajizadeh S, DeGroot J, TeKoppele JM, et al. Extracellular mitochondrial DNA and oxidatively damaged DNA in synovial fluid of patients with rheumatoid arthritis. Arthritis Res Ther. 2003;5:R234–40.CrossRefPubMedPubMedCentral Hajizadeh S, DeGroot J, TeKoppele JM, et al. Extracellular mitochondrial DNA and oxidatively damaged DNA in synovial fluid of patients with rheumatoid arthritis. Arthritis Res Ther. 2003;5:R234–40.CrossRefPubMedPubMedCentral
7.
go back to reference Altindag O, Karakoc M, Kocyigit A, et al. Increased DNA damage and oxidative stress in patients with rheumatoid arthritis. Clin Biochem. 2007;40:167–71.CrossRefPubMed Altindag O, Karakoc M, Kocyigit A, et al. Increased DNA damage and oxidative stress in patients with rheumatoid arthritis. Clin Biochem. 2007;40:167–71.CrossRefPubMed
8.
go back to reference Bhusate LL, Herbert KE, Scott DL, Perrett D. Increased DNA strand breaks in mononuclear cells from patients with rheumatoid arthritis. Ann Rheum Dis. 1992;51:8–12.CrossRefPubMedPubMedCentral Bhusate LL, Herbert KE, Scott DL, Perrett D. Increased DNA strand breaks in mononuclear cells from patients with rheumatoid arthritis. Ann Rheum Dis. 1992;51:8–12.CrossRefPubMedPubMedCentral
9.
go back to reference Lee SH, Chang DK, Goel A, et al. Microsatellite instability and suppressed DNA repair enzyme expression in rheumatoid arthritis. J Immunol. 2003;170:2214–20.CrossRefPubMed Lee SH, Chang DK, Goel A, et al. Microsatellite instability and suppressed DNA repair enzyme expression in rheumatoid arthritis. J Immunol. 2003;170:2214–20.CrossRefPubMed
10.
go back to reference Lodish H, Berk A, Kaiser CA, et al. Molecular Cell Biology, 7th ed. New York: W.H.Freeman & Company; 2012. Lodish H, Berk A, Kaiser CA, et al. Molecular Cell Biology, 7th ed. New York: W.H.Freeman & Company; 2012.
12.
go back to reference Cooke MS, Evans MD, Dizdaroglu M, Lunec J. Oxidative DNA damage: mechanisms, mutation, and disease. FASEB J. 2003;17:1195–214.CrossRefPubMed Cooke MS, Evans MD, Dizdaroglu M, Lunec J. Oxidative DNA damage: mechanisms, mutation, and disease. FASEB J. 2003;17:1195–214.CrossRefPubMed
13.
go back to reference Robertson AB, Klungland A, Rognes T, Leiros I. Base excision repair: the long and short of it. Cell Mol Life Sci. 2009;66:981–93.CrossRefPubMed Robertson AB, Klungland A, Rognes T, Leiros I. Base excision repair: the long and short of it. Cell Mol Life Sci. 2009;66:981–93.CrossRefPubMed
14.
go back to reference (ESCODD) ESC on ODD. Measurement of DNA oxidation in human cells by chromatographic and enzymic methods. Free Radic Biol Med. 2003;34:1089–99.CrossRef (ESCODD) ESC on ODD. Measurement of DNA oxidation in human cells by chromatographic and enzymic methods. Free Radic Biol Med. 2003;34:1089–99.CrossRef
15.
go back to reference Gedik CM, Collins A, ESCODD (European Standards Committee on Oxidative DNA Damage). Establishing the background level of base oxidation in human lymphocyte DNA: results of an interlaboratory validation study. FASEB J. 2005;19:82–4.PubMed Gedik CM, Collins A, ESCODD (European Standards Committee on Oxidative DNA Damage). Establishing the background level of base oxidation in human lymphocyte DNA: results of an interlaboratory validation study. FASEB J. 2005;19:82–4.PubMed
16.
go back to reference Friedberg EC, Walker GC, Siede W, et al. DNA Repair and Mutagenesis: Second Edition. Washington, DC: American Society for Microbiology; 2006. Friedberg EC, Walker GC, Siede W, et al. DNA Repair and Mutagenesis: Second Edition. Washington, DC: American Society for Microbiology; 2006.
17.
go back to reference Shinmura K, Yamaguchi S, Saitoh T, et al. Adenine excisional repair function of MYH protein on the adenine:8-hydroxyguanine base pair in double-stranded DNA. Nucleic Acids Res. 2000;28:4912–8.CrossRefPubMedPubMedCentral Shinmura K, Yamaguchi S, Saitoh T, et al. Adenine excisional repair function of MYH protein on the adenine:8-hydroxyguanine base pair in double-stranded DNA. Nucleic Acids Res. 2000;28:4912–8.CrossRefPubMedPubMedCentral
18.
go back to reference Gu Y, Lu AL. Differential DNA recognition and glycosylase activity of the native human MutY homolog (hMYH) and recombinant hMYH expressed in bacteria. Nucleic Acids Res. 2001;29:2666–74.CrossRefPubMedPubMedCentral Gu Y, Lu AL. Differential DNA recognition and glycosylase activity of the native human MutY homolog (hMYH) and recombinant hMYH expressed in bacteria. Nucleic Acids Res. 2001;29:2666–74.CrossRefPubMedPubMedCentral
19.
go back to reference Tsai-Wu JJ, Su HT, Wu YL, et al. Nuclear localization of the human mutY homologue hMYH. J Cell Biochem. 2000;77:666–77.CrossRefPubMed Tsai-Wu JJ, Su HT, Wu YL, et al. Nuclear localization of the human mutY homologue hMYH. J Cell Biochem. 2000;77:666–77.CrossRefPubMed
20.
go back to reference Boldogh I, Milligan D, Lee M. hMYH cell cycle-dependent expression, subcellular localization and association with replication foci: evidence suggesting replication-coupled repair of adenine: 8-oxoguanine. Nucleic Acids Res. 2001;29:2802–9.CrossRefPubMedPubMedCentral Boldogh I, Milligan D, Lee M. hMYH cell cycle-dependent expression, subcellular localization and association with replication foci: evidence suggesting replication-coupled repair of adenine: 8-oxoguanine. Nucleic Acids Res. 2001;29:2802–9.CrossRefPubMedPubMedCentral
21.
go back to reference Oka SNY. DNA glycosylase encoded by MUTYH functions as a molecular switch for programmed cell death under oxidative stress to suppress tumorigenesis. Cancer Sci. 2011;102:677–82.CrossRefPubMed Oka SNY. DNA glycosylase encoded by MUTYH functions as a molecular switch for programmed cell death under oxidative stress to suppress tumorigenesis. Cancer Sci. 2011;102:677–82.CrossRefPubMed
22.
go back to reference Goto M, Shinmura K, Yamada H, et al. OGG1, MYH and MTH1 gene variants identified in gastric cancer patients exhibiting both 8-hydroxy-2’-deoxyguanosine accumulation and low inflammatory cell infiltration in their gastric mucosa. J Genet. 2008;87:181–6.CrossRefPubMed Goto M, Shinmura K, Yamada H, et al. OGG1, MYH and MTH1 gene variants identified in gastric cancer patients exhibiting both 8-hydroxy-2’-deoxyguanosine accumulation and low inflammatory cell infiltration in their gastric mucosa. J Genet. 2008;87:181–6.CrossRefPubMed
23.
go back to reference Yamaguchi S, Ogata H, Katsumata D, et al. MUTYH-associated colorectal cancer and adenomatous polyposis. Surg Today. 2014;44(4):593–600.CrossRefPubMed Yamaguchi S, Ogata H, Katsumata D, et al. MUTYH-associated colorectal cancer and adenomatous polyposis. Surg Today. 2014;44(4):593–600.CrossRefPubMed
24.
25.
go back to reference Deng GM, Nilsson IM, Verdrengh M, et al. Intra-articularly localized bacterial DNA containing CpG motifs induces arthritis. Nat Med. 1999;5:702–5.CrossRefPubMed Deng GM, Nilsson IM, Verdrengh M, et al. Intra-articularly localized bacterial DNA containing CpG motifs induces arthritis. Nat Med. 1999;5:702–5.CrossRefPubMed
26.
go back to reference van der Heijden IM, Wilbrink B, Tchetverikov I, et al. Presence of bacterial DNA and bacterial peptidoglycans in joints of patients with rheumatoid arthritis and other arthritides. Arthritis Rheum. 2000;43:593–8.CrossRefPubMed van der Heijden IM, Wilbrink B, Tchetverikov I, et al. Presence of bacterial DNA and bacterial peptidoglycans in joints of patients with rheumatoid arthritis and other arthritides. Arthritis Rheum. 2000;43:593–8.CrossRefPubMed
28.
go back to reference Arnett FC, Edworthy SM, Bloch DA, The American Rheumatism Association, et al. revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum. 1987;1988:315–24. Arnett FC, Edworthy SM, Bloch DA, The American Rheumatism Association, et al. revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum. 1987;1988:315–24.
29.
go back to reference Aletaha D, Neogi T, Silman AJ, et al. 2010 Rheumatoid arthritis classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Arthritis Rheum. 2010;62:2569–81.CrossRefPubMed Aletaha D, Neogi T, Silman AJ, et al. 2010 Rheumatoid arthritis classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Arthritis Rheum. 2010;62:2569–81.CrossRefPubMed
30.
go back to reference Lin YJ, Liu X, Chang JS, et al. Coronary artery aneurysms occurrence risk analysis between Kawasaki disease and LRP1B gene in Taiwanese children. Biomedicine (Taipei). 2014;4:10.CrossRef Lin YJ, Liu X, Chang JS, et al. Coronary artery aneurysms occurrence risk analysis between Kawasaki disease and LRP1B gene in Taiwanese children. Biomedicine (Taipei). 2014;4:10.CrossRef
31.
go back to reference Parker AR, O’Meally RN, Sahin F, et al. Defective human MutY phosphorylation exists in colorectal cancer cell lines with wild-type MutY alleles. J Biol Chem. 2003;278:47937–45.CrossRefPubMed Parker AR, O’Meally RN, Sahin F, et al. Defective human MutY phosphorylation exists in colorectal cancer cell lines with wild-type MutY alleles. J Biol Chem. 2003;278:47937–45.CrossRefPubMed
32.
go back to reference Hayashi H, Tominaga Y, Hirano S. Replication-associated repair of adenine: 8-oxoguanine mispairs by MYH. Curr Biol. 2002;12:335–9.CrossRefPubMed Hayashi H, Tominaga Y, Hirano S. Replication-associated repair of adenine: 8-oxoguanine mispairs by MYH. Curr Biol. 2002;12:335–9.CrossRefPubMed
34.
go back to reference Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137:1976–85.CrossRefPubMed Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137:1976–85.CrossRefPubMed
35.
go back to reference Win AK, Cleary SP, Dowty JG, et al. Cancer risks for monoallelic MUTYH mutation carriers with family history of colorectal cancer. Int J Cancer. 2011;129:2256–62.CrossRefPubMedPubMedCentral Win AK, Cleary SP, Dowty JG, et al. Cancer risks for monoallelic MUTYH mutation carriers with family history of colorectal cancer. Int J Cancer. 2011;129:2256–62.CrossRefPubMedPubMedCentral
36.
go back to reference Ponti G, Ponz de Leon M, Maffei S, et al. Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet. 2005;68:442–7.CrossRefPubMed Ponti G, Ponz de Leon M, Maffei S, et al. Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet. 2005;68:442–7.CrossRefPubMed
37.
go back to reference Miyaishi A, Osawa K, Osawa Y, et al. MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in a Japanese population. J Exp Clin Cancer Res. 2009;28:10.CrossRefPubMedPubMedCentral Miyaishi A, Osawa K, Osawa Y, et al. MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in a Japanese population. J Exp Clin Cancer Res. 2009;28:10.CrossRefPubMedPubMedCentral
38.
go back to reference Thyagarajan B, Lindgren B, Basu S, et al. Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations. Biol Blood Marrow Transplant. 2010;16:1084–9.CrossRefPubMedPubMedCentral Thyagarajan B, Lindgren B, Basu S, et al. Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations. Biol Blood Marrow Transplant. 2010;16:1084–9.CrossRefPubMedPubMedCentral
40.
go back to reference Ohtsubo T, Nishioka K, Imaiso Y, et al. Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria. Nucleic Acids Res. 2000;28:1355–64.CrossRefPubMedPubMedCentral Ohtsubo T, Nishioka K, Imaiso Y, et al. Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria. Nucleic Acids Res. 2000;28:1355–64.CrossRefPubMedPubMedCentral
41.
go back to reference Takao M, Aburatani H, Kobayashi K, Yasui A. Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage. Nucleic Acids Res. 1998;26:2917–22.CrossRefPubMedPubMedCentral Takao M, Aburatani H, Kobayashi K, Yasui A. Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage. Nucleic Acids Res. 1998;26:2917–22.CrossRefPubMedPubMedCentral
42.
go back to reference Takao M, Zhang QM, Yonei S, Yasui A. Differential subcellular localization of human MutY homolog (hMYH) and the functional activity of adenine:8-oxoguanine DNA glycosylase. Nucleic Acids Res. 1999;27:3638–44.CrossRefPubMedPubMedCentral Takao M, Zhang QM, Yonei S, Yasui A. Differential subcellular localization of human MutY homolog (hMYH) and the functional activity of adenine:8-oxoguanine DNA glycosylase. Nucleic Acids Res. 1999;27:3638–44.CrossRefPubMedPubMedCentral
45.
go back to reference Anderson J, Caplan L, Yazdany J, Robbins ML, Neogi T, Michaud K, Saag KG, O'Dell JR, Kazi S. Rheumatoid arthritis disease activity measures: American College of Rheumatology recommendations for use in clinical practice. Arthritis Care Res (Hoboken). 2012;64:640–7.CrossRef Anderson J, Caplan L, Yazdany J, Robbins ML, Neogi T, Michaud K, Saag KG, O'Dell JR, Kazi S. Rheumatoid arthritis disease activity measures: American College of Rheumatology recommendations for use in clinical practice. Arthritis Care Res (Hoboken). 2012;64:640–7.CrossRef
46.
go back to reference Lal P, Su Z, Holweg CT, et al. Inflammation and autoantibody markers identify rheumatoid arthritis patients with enhanced clinical benefit following rituximab treatment. Arthritis Rheum. 2011;63:3681–91.CrossRefPubMed Lal P, Su Z, Holweg CT, et al. Inflammation and autoantibody markers identify rheumatoid arthritis patients with enhanced clinical benefit following rituximab treatment. Arthritis Rheum. 2011;63:3681–91.CrossRefPubMed
47.
go back to reference Crowson CS, Rahman MU, Matteson EL. Which measure of inflammation to use? A comparison of erythrocyte sedimentation rate and C-reactive protein measurements from randomized clinical trials of golimumab in rheumatoid arthritis. J Rheumatol. 2009;36:1606–10.CrossRefPubMed Crowson CS, Rahman MU, Matteson EL. Which measure of inflammation to use? A comparison of erythrocyte sedimentation rate and C-reactive protein measurements from randomized clinical trials of golimumab in rheumatoid arthritis. J Rheumatol. 2009;36:1606–10.CrossRefPubMed
48.
go back to reference Klinge SA, Sawyer GA. Effectiveness and safety of topical versus oral nonsteroidal anti-inflammatory drugs: a comprehensive review. Phys Sportsmed. 2013;41:64–74.CrossRefPubMed Klinge SA, Sawyer GA. Effectiveness and safety of topical versus oral nonsteroidal anti-inflammatory drugs: a comprehensive review. Phys Sportsmed. 2013;41:64–74.CrossRefPubMed
49.
go back to reference Armstrong AW, Brezinski EA, Follansbee MR, Armstrong EJ. Effects of biologic agents and other disease-modifying antirheumatic drugs on cardiovascular outcomes in psoriasis and psoriatic arthritis: a systematic review. Curr Pharm Des. 2014;20:500–12.CrossRefPubMed Armstrong AW, Brezinski EA, Follansbee MR, Armstrong EJ. Effects of biologic agents and other disease-modifying antirheumatic drugs on cardiovascular outcomes in psoriasis and psoriatic arthritis: a systematic review. Curr Pharm Des. 2014;20:500–12.CrossRefPubMed
Metadata
Title
Polymorphism and protein expression of MUTYH gene for risk of rheumatoid arthritis
Authors
Shih-Yin Chen
Hsin-Han Chen
Yu-Chuen Huang
Shih-Ping Liu
Ying-Ju Lin
Sui-Foon Lo
Yuan-Yen Chang
Hui-Wen Lin
Chung-Ming Huang
Fuu-Jen Tsai
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Musculoskeletal Disorders / Issue 1/2017
Electronic ISSN: 1471-2474
DOI
https://doi.org/10.1186/s12891-017-1437-0

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