Association between phosphatase related gene variants and coronary artery disease: Case-control study and meta-analysis

International Journal of Molecular Sciences

Volumn 15, Issue 8, 2014, Pages 14058-14076

  Han, Xia ^a   Zhang, Lijun ^a   Zhang, Zhiqiang ^a   Zhang, Zengtang ^a   Wang, Jianchun ^b   Yang, Jun ^c   Niu, Jiamin ^a  

^a Department of Cardiology Laiwu People's Hospital ^*  (China)

^b SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG UNIVERSITY   (China)

^c YANTAI YUHUANGDING HOSPITAL   (China)

Author keywords

ACP1; Coronary artery disease; Meta analysis; PHACTR11; PTPN11; SNP

Indexed keywords

ALKALINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE SHP 2; ACP1 PROTEIN, HUMAN; ONCOPROTEIN; PROTEIN TYROSINE PHOSPHATASE; PTPN11 PROTEIN, HUMAN;

ACP1 GENE; ADULT; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; CORONARY ARTERY DISEASE; DNA ISOLATION; FEMALE; GENDER; GENE; GENE AMPLIFICATION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; LITERATURE; MAJOR CLINICAL STUDY; MALE; META ANALYSIS; PHACTR11 GENE; POLYMERASE CHAIN REACTION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; AGE DISTRIBUTION; AGED; GENETIC PREDISPOSITION; GENETICS;

AGE DISTRIBUTION; AGED; CASE-CONTROL STUDIES; CORONARY ARTERY DISEASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PROTEIN TYROSINE PHOSPHATASES; PROTO-ONCOGENE PROTEINS;

EID: 84929320827     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms150814058     Document Type: Article

References (67)

1. Zhang, X.H.; Lu, Z.L.; Liu, L. Coronary heart disease in China. Heart 2008, 94, 1126-1131.
2. Visvikis-Siest, S.; Marteau, J.B. Genetic variants predisposing to cardiovascular disease. Curr. Opin. Lipidol. 2006, 17, 139-151.
3. Roberts, R.; Stewart, A.F. 9p21 and the genetic revolution for coronary artery disease. Clin. Chem. 2012, 58, 104-112.
4. Roberts, R.; Chen, L.; Wells, G.A.; Stewart, A.F. Recent success in the discovery of coronary artery disease genes. Can. J. Physiol. Pharmacol. 2011, 89, 609-615.
5. Ren, H.; Panchatcharam, M.; Mueller, P.; Escalante-Alcalde, D.; Morris, A.J.; Smyth, S.S. Lipid phosphate phosphatase (LPP3) and vascular development. Biochim. Biophys. Acta 2013, 1831, 126-132.
6. Schunkert, H.; Konig, I.R.; Kathiresan, S.; Reilly, M.P.; Assimes, T.L.; Holm, H.; Preuss, M.; Stewart, A.F.; Barbalic, M.; Gieger, C.; et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat. Genet. 2011, 43, 333-338.
7. Teruel, M.; Martin, J.E.; Gonzalez-Juanatey, C.; Lopez-Mejias, R.; Miranda-Filloy, J.A.; Blanco, R.; Balsa, A.; Pascual-Salcedo, D.; Rodriguez-Rodriguez, L.; Fernández-Gutierrez, B.; et al. Association of acid phosphatase locus 1*C allele with the risk of cardiovascular events in rheumatoid arthritis patients. Arthritis Res. Ther. 2011, 13, R116. doi:10.1186/ar3401.
8. Mount, P.F.; Kemp, B.E.; Power, D.A. Regulation of endothelial and myocardial NO synthesis by multi-site eNOS phosphorylation. J. Mol. Cell. Cardiol. 2007, 42, 271-279.
9. Dudzinski, D.M.; Michel, T. Life history of eNOS: Partners and pathways. Cardiovasc. Res. 2007, 75, 247-260.
10. Hager, J.; Kamatani, Y.; Cazier, J.B.; Youhanna, S.; Ghassibe-Sabbagh, M.; Platt, D.E.; Abchee, A.B.; Romanos, J.; Khazen, G.; Othman, R.; et al. Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis. PLoS One 2012, 7, e38663.
11. Elchebly, M.; Payette, P.; Michaliszyn, E.; Cromlish, W.; Collins, S.; Loy, A.L.; Normandin, D.; Cheng, A.; Himms-Hagen, J.; Chan, C.C.; et al. Increased insulin sensitivity and obesity resistance in mice lacking the protein tyrosine phosphatase-1B gene. Science 1999, 283, 1544-1548.
12. Raugei, G.; Ramponi, G.; Chiarugi, P. Low molecular weight protein tyrosine phosphatases: Small, but smart. Cell. Mol. Life Sci. 2002, 59, 941-949.
13. Gloria-Bottini, F.; Bottini, N.; Renzetti, G.; Bottini, E. ACP1 and Th class of immunological disease: Evidence of interaction with gender. Int. Arch. Allergy Immunol. 2007, 143, 170-176.
14. Alho, I.; Clara Bicho, M.; Carvalho, R.; da Silva, A.P.; Costa, L.; Bicho, M. Low molecular weight protein tyrosine phosphatase genetic polymorphism and susceptibility to cancer development. Cancer Genet. Cytogenet. 2008, 181, 20-24.
15. Gloria-Bottini, F.; Banci, M.; Saccucci, P.; Neri, A.; Bottini, E.; Magrini, A. p53 codon 72 polymorphism and coronary artery disease: Evidence of interaction with ACP(1). Med. Sci. Monit. 2012, 18, CR712-CR715.
16. Banci, M.; Saccucci, P.; D'Annibale, F.; Dofcaci, A.; Trionfera, G.; Magrini, A.; Bottini, N.; Bottini, E.; Gloria-Bottini, F. ACP1 genetic polymorphism and coronary artery disease: An association study. Cardiology 2009, 113, 236-242.
17. Hirano, T. Interleukin 6 in autoimmune and inflammatory diseases: A personal memoir. Proc. Jpn. Acad. Ser. B Phys. Biol. Sci. 2010, 86, 717-730.
18. Timmerman, I.; Hoogenboezem, M.; Bennett, A.M.; Geerts, D.; Hordijk, P.L.; van Buul, J.D. The tyrosine phosphatase SHP2 regulates recovery of endothelial adherens junctions through control of beta-catenin phosphorylation. Mol. Biol. Cell 2012, 23, 4212-4225.
19. Mannell, H.; Krotz, F. SHP-2 regulates growth factor dependent vascular signalling and function. Mini Rev. Med. Chem. 2014, 14, 471-483.
20. Seki, N.; Hashimoto, N.; Suzuki, Y.; Mori, S.; Amano, K.; Saito, Y. Role of SRC homology 2-containing tyrosine phosphatase 2 on proliferation of rat smooth muscle cells. Arterioscler. Thromb. Vasc. Biol. 2002, 22, 1081-1085.
21. Won, K.J.; Lee, H.M.; Lee, C.K.; Lin, H.Y.; Na, H.; Lim, K.W.; Roh, H.Y.; Sim, S.; Song, H.; Choi, W.S.; et al. Protein tyrosine phosphatase SHP-2 is positively involved in platelet-derived growth factor-signaling in vascular neointima formation via the reactive oxygen species-related pathway. J. Pharmacol. Sci. 2011, 115, 164-175.
22. Sturla, L.M.; Zinn, P.O.; Ng, K.; Nitta, M.; Kozono, D.; Chen, C.C.; Kasper, E.M. Src homology domain-containing phosphatase 2 suppresses cellular senescence in glioblastoma. Br. J. Cancer 2011, 105, 1235-1243.
23. Mali, R.S.; Chan, R.; Kapur, R. Targeting SHP2 phosphatase in myeloproliferative neoplasms. Oncotarget 2012, 3, 1049-1051.
24. Jiang, J.; Jia, Z.F.; Kong, F.; Jin, M.S.; Wang, Y.P.; Tian, S.; Suo, J.; Cao, X. Association of polymorphism of PTPN 11 encoding SHP-2 with gastric atrophy but not gastric cancer in Helicobacter pylori seropositive Chinese population. BMC Gastroenterol. 2012, 12, 89. doi:10.1186/1471-230X-12-89.
25. Dong, S.; Li, F.Q.; Zhang, Q.; Lv, K.Z.; Yang, H.L.; Gao, Y.; Yu, J.R. Expression and clinical significance of SHP2 in gastric cancer. J. Int. Med. Res. 2012, 40, 2083-2089.
26. Dunlap, J.; Beadling, C.; Warrick, A.; Neff, T.; Fleming, W.H.; Loriaux, M.; Heinrich, M.C.; Kovacsovics, T.; Kelemen, K.; Leeborg, N.; et al. Multiplex high-throughput gene mutation analysis in acute myeloid leukemia. Hum. Pathol. 2012, 43, 2167-2176.
27. Aceto, N.; Bentires-Alj, M. Targeting protein-tyrosine phosphatases in breast cancer. Oncotarget 2012, 3, 514-515.
28. Bentires-Alj, M.; Paez, J.G.; David, F.S.; Keilhack, H.; Halmos, B.; Naoki, K.; Maris, J.M.; Richardson, A.; Bardelli, A.; Sugarbaker, D.J.; et al. Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Cancer Res. 2004, 64, 8816-8820.
29. Ikram, M.K.; Sim, X.; Jensen, R.A.; Cotch, M.F.; Hewitt, A.W.; Ikram, M.A.; Wang, J.J.; Klein, R.; Klein, B.E.; Breteler, M.M.; et al. Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. PLoS Genet. 2010, 6, e1001184.
30. Petoumenos, K.; Worm, S.W. HIV infection, aging and cardiovascular disease: Epidemiology and prevention. Sex. Health 2011, 8, 465-473.
31. Roger, V.L.; Go, A.S.; Lloyd-Jones, D.M.; Adams, R.J.; Berry, J.D.; Brown, T.M.; Carnethon, M.R.; Dai, S.; de Simone, G.; Ford, E.S.; et al. Heart disease and stroke statistics-2011 update: A report from the American Heart Association. Circulation 2011, 123, e18-e209.
32. Rai, M.; Baker, W.L.; Parker, M.W.; Heller, G.V. Meta-analysis of optimal risk stratification in patients >65 years of age. Am. J. Cardiol. 2012, 110, 1092-1099.
33. Weiss, L.A.; Pan, L.; Abney, M.; Ober, C. The sex-specific genetic architecture of quantitative traits in humans. Nat. Genet. 2006, 38, 218-222.
34. Huang, Y.; Zhou, J.; Ye, H.; Xu, L.; Le, Y.; Yang, X.; Xu, W.; Huang, X.; Lian, J.; Duan, S. Relationship between chemokine (C-X-C motif) ligand 12 gene variant (rs1746048) and coronary heart disease: Case-control study and meta-analysis. Gene 2013, 521, 38-44.
35. Zhou, J.; Huang, Y.; Huang, R.S.; Wang, F.; Xu, L.; Le, Y.; Yang, X.; Xu, W.; Huang, X.; Lian, J.; et al. A case-control study provides evidence of association for a common SNP rs974819 in PDGFD to coronary heart disease and suggests a sex-dependent effect. Thromb. Res. 2012, 130, 602-606.
36. Zhang, L.N.; Liu, P.P.; Zhou, J.; Huang, R.S.; Yuan, F.; Fei, L.J.; Huang, Y.; Xu, L.; Hao, L.M.; Qiu, X.J.; et al. Positive correlation between variants of lipid metabolismrelated genes and coronary heart disease. Mol. Med. Rep. 2013, 8, 260-266.
37. Peng, P.; Lian, J.; Huang, R.S.; Xu, L.; Huang, Y.; Ba, Y.; Yang, X.; Huang, X.; Dong, C.; Zhang, L.; et al. Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic effect. PLoS One 2012, 7, e50126.
38. Gloria-Bottini, F.; Banci, M.; Saccucci, P.; Papetti, F.; Neri, A.; Pietroiusti, A.; Magrini, A.; Bottini, E. The interaction of ACP1, ADA1, diabetes and gender in coronary artery disease. Am. J. Med. Sci. 2010, 340, 103-108.
39. Alonso, A.; Sasin, J.; Bottini, N.; Friedberg, I.; Osterman, A.; Godzik, A.; Hunter, T.; Dixon, J.; Mustelin, T. Protein tyrosine phosphatases in the human genome. Cell 2004, 117, 699-711.
40. Chong, Z.Z.; Wang, S.; Shang, Y.C.; Maiese, K. Targeting cardiovascular disease with novel SIRT1 pathways. Future Cardiol. 2012, 8, 89-100.
41. Park, J.B.; Kang, D.Y.; Yang, H.M.; Cho, H.J.; Park, K.W.; Lee, H.Y.; Kang, H.J.; Koo, B.K.; Kim, H.S. Serum alkaline phosphatase is a predictor of mortality, myocardial infarction, or stent thrombosis after implantation of coronary drug-eluting stent. Eur. Heart J. 2013, 34, 920-931.
42. Yuan, M.; Wang, X.; Zhan, Q.; Duan, X.; Yang, Q.; Xia, J. Association of PTEN genetic polymorphisms with atherosclerotic cerebral infarction in the Han Chinese population. J. Clin. Neurosci. 2012, 19, 1641-1645.
43. Saccucci, P.; Banci, M.; Cozzoli, E.; Neri, A.; Magrini, A.; Bottini, E.; Gloria-Bottini, F. Atherosclerosis and PTPN22: A study in coronary artery disease. Cardiology 2011, 119, 54-56.
44. Saccucci, P.; Banci, M.; Amante, A.; Bottini, E.; Gloria-Bottini, F. Coronary artery disease: Evidence of interaction between PTPN22 and p53 genetic polymorphisms. Cardiology 2011, 120, 166-168.
45. Zhou, X.; Xu, W.; Chen, J. The 981C>T polymorphism in protein tyrosine phosphatase 1B is associated with decreased risk of coronary artery disease in Chinese Han population. Atherosclerosis 2011, 218, 147-150.
46. Tasic, I.; Milojkovic, M.; Sunder-Plassmann, R.; Lazarevic, G.; Tasic, N.M.; Stefanovic, V. The association of PC-1 (ENPP1) K121Q polymorphism with metabolic syndrome in patients with coronary heart disease. Clin. Chim. Acta 2007, 377, 237-242.
47. Polzonetti, V.; Passini, V.; Lucarini, N. Association between ACP(1) genetic polymorphism and favism. Genet. Mol. Res. 2011, 10, 878-884.
48. Gloria-Bottini, F.; Spina, C.; Nicotra, M.; Saccucci, P.; Ambrosi, S.; Bottini, E. Acid phosphatase locus 1 genetic polymorphism and cancer grading. Am. J. Med. Sci. 2012, 344, 32-34.
49. Gloria-Bottini, F.; Saccucci, P.; Magrini, A.; Bottini, E. Is there a role of ACP1-ADA1 genetic complex in immune reaction? Association with T1D and with past malarial morbidity. Am. J. Med. Sci. 2010, 340, 268-270.
50. Shu, Y.H.; Hartiala, J.; Xiang, A.H.; Trigo, E.; Lawrence, J.M.; Allayee, H.; Buchanan, T.A.; Bottini, N.; Watanabe, R.M. Evidence for sex-specific associations between variation in acid phosphatase locus 1 (ACP1) and insulin sensitivity in Mexican-Americans. J. Clin. Endocrinol. Metab. 2009, 94, 4094-4102.
51. Emilsson, V.; Thorleifsson, G.; Zhang, B.; Leonardson, A.S.; Zink, F.; Zhu, J.; Carlson, S.; Helgason, A.; Walters, G.B.; Gunnarsdottir, S.; et al. Genetics of gene expression and its effect on disease. Nature 2008, 452, 423-428.
52. Qi, L.; Parast, L.; Cai, T.; Powers, C.; Gervino, E.V.; Hauser, T.H.; Hu, F.B.; Doria, A. Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies. J. Am. Coll. Cardiol. 2011, 58, 2675-2682.
53. Pechlivanis, S.; Muhleisen, T.W.; Mohlenkamp, S.; Schadendorf, D.; Erbel, R.; Jockel, K.H.; Hoffmann, P.; Nothen, M.M.; Scherag, A.; Moebus S; et al. Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study. BMC Med. Genet. 2013, 14, 23. doi:10.1186/1471-2350-14-23.
54. Kathiresan, S.; Voight, B.F.; Purcell, S.; Musunuru, K.; Ardissino, D.; Mannucci, P.M.; Anand, S.; Engert, J.C.; Samani, N.J.; Schunkert, H.; et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat. Genet. 2009, 41, 334-341.
55. Lee, J.Y.; Lee, B.S.; Shin, D.J.; Woo Park, K.; Shin, Y.A.; Joong Kim, K.; Heo, L.; Young Lee, J.; Kyoung Kim, Y.; Jin Kim, Y.; et al. A genome-wide association study of a coronary artery disease risk variant. J. Hum. Genet. 2013, 58, 120-126
56. Brasil, A.S.; Pereira, A.C.; Wanderley, L.T.; Kim, C.A.; Malaquias, A.C.; Jorge, A.A.; Krieger, J.E.; Bertola, D.R. PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. Genet. Test. Mol. Biomark. 2010, 14, 425-432.
57. Papadopoulou, A.; Issakidis, M.; Gole, E.; Kosma, K.; Fryssira, H.; Fretzayas, A.; Nicolaidou, P.; Kitsiou-Tzeli, S. Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: The value of initial clinical assessment. Eur. J. Pediatr. 2012, 171, 51-58.
58. Sarkozy, A.; Conti, E.; Seripa, D.; Digilio, M.C.; Grifone, N.; Tandoi, C.; Fazio, V.M.; di Ciommo, V.; Marino, B.; Pizzuti, A.; et al. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J. Med. Genet. 2003, 40, 704-708.
59. Daly, M.E. Determinants of platelet count in humans. Haematologica 2011, 96, 10-13.
60. Jia, Z.F.; Cao, X.Y.; Cao, D.H.; Kong, F.; Kharbuja, P.; Jiang, J. Polymorphisms of PTPN11 gene could influence serum lipid levels in a sex-specific pattern. Lipids Health Dis. 2013, 12, 72. doi:10.1186/1476-511X-12-72.
61. Zaid, G.; Yehudai, D.; Rosenschein, U.; Zeina, A.R. Coronary artery disease in an asymptomatic population undergoing a multidetector computed tomography (MDCT) coronary angiography. Open Cardiovasc. Med. J. 2010, 4, 7-13.
62. Higgs, Z.C.; Macafee, D.A.; Braithwaite, B.D.; Maxwell-Armstrong, C.A. The Seldinger technique: 50 years on. Lancet 2005, 366, 1407-1409.
63. Gabriel, S.; Ziaugra, L.; Tabbaa, D. SNP genotyping using the Sequenom MassARRAY iPLEX platform. Curr. Protoc. Hum. Genet. 2009, doi:10.1002/0471142905.hg0212s60.
64. Huang, Y.; Yu, X.; Wang, L.; Zhou, S.; Sun, J.; Feng, N.; Nie, S.; Wu, J.; Gao, F.; Fei, B.; et al. Four genetic polymorphisms of lymphotoxin-alpha gene and cancer risk: A systematic review and meta-analysis. PLoS One 2013, 8, e82519.
65. Lian, J.; Xu, L.; Huang, Y.; Le, Y.; Jiang, D.; Yang, X.; Xu, W.; Huang, X.; Dong, C.; Ye, M.; et al. Meta-analyses of HFE variants in coronary heart disease. Gene 2013, 527, 167-173.
66. Lian, J.; Huang, Y.; Huang, R.S.; Xu, L.; Le, Y.; Yang, X.; Xu, W.; Huang, X.; Ye, M.; Zhou, J.; et al. Meta-analyses of four eosinophil related gene variants in coronary heart disease. J. Thromb. Thrombolysis 2013, 36, 394-401.
67. Huang, Y.; Lian, J.; Huang, R.S.; Wang, F.; Xu, L.; Le, Y.; Yang, X.; Xu, W.; Huang, X.; Ye, M.; et al. Positive association between rs10918859 of the NOS1AP gene and coronary heart disease in male Han Chinese. Genet. Test. Mol. Biomark. 2013, 17, 25-29.