Association analysis of PON2 genetic variants with serum paraoxonase activity and systemic lupus erythematosus

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Dasgupta, Sudeshna ^a   Demirci, F Yesim ^a   Dressen, Amy S ^a   Kao, Amy H ^b   Rhew, Elisa Y ^c   Ramsey Goldman, Rosalind ^c   Manzi, Susan ^b,d   Kammerer, Candace M ^a   Kamboh, M Ilyas ^a  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b Lupus Center of Excellence   (United States)

^c NORTHWESTERN UNIVERSITY   (United States)

^d Western Pennsylvania Conservancy   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARYLDIALKYLPHOSPHATASE; ARYLDIALKYLPHOSPHATASE 2; PON2 PROTEIN, HUMAN;

ADULT; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DATA BASE; ENZYME ACTIVITY; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; IMMUNOPATHOLOGY; LUPUS ERYTHEMATOSUS NEPHRITIS; MAJOR CLINICAL STUDY; PYROSEQUENCING; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; ALLELE; BLOOD; CASE CONTROL STUDY; ENZYMOLOGY; GENETICS; METABOLISM; MIDDLE AGED;

ADULT; ALLELES; ARYLDIALKYLPHOSPHATASE; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 78651088842     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-7     Document Type: Article

References (37)

1. D'Cruz DP, Khamashta MA, Hughes GR. Systemic lupus erythematosus. Lancet 2007, 369:587-596.
2. Lawrence JS, Martins CL, Drake GL. A family survey of lupus erythematosus. 1. Heritability. J Rheumatol 1987, 14:913-921.
3. Manzi S, Meilahn EN, Rairie JE, Conte CG, Medsger TA, Jansen-McWilliams L, D'Agostino RB, Kuller LH. Age-specific incidence rates of myocardial infarction and angina in women with systemic lupus erythematosus: comparison with the Framingham Study. Am J Epidemiol 1997, 145:408-415.
4. Ng CJ, Shih DM, Hama SY, Villa N, Navab M, Reddy ST. The paraoxonase gene family and atherosclerosis. Free Radic Biol Med 2005, 38:153-163. 10.1016/j.freeradbiomed.2004.09.035, 15607899.
5. Mackness B, Davies GK, Turkie W, Lee E, Roberts DH, Hill E, Roberts C, Durrington PN, Mackness MI. Paraoxonase status in coronary heart disease: are activity and concentration more important than genotype?. Arterioscler Thromb Vasc Biol 2001, 21:1451-1457. 10.1161/hq0901.094247, 11557671.
6. Ayub A, Mackness MI, Arrol S, Mackness B, Patel J, Durrington PN. Serum paraoxonase after myocardial infarction. Arterioscler Thromb Vasc Biol 1999, 19:330-335.
7. Tripi LM, Manzi S, Chen Q, Kenney M, Shaw P, Kao A, Bontempo F, Kammerer C, Kamboh MI. Relationship of serum paraoxonase 1 activity and paraoxonase 1 genotype to risk of systemic lupus erythematosus. Arthritis Rheum 2006, 54:1928-1939. 10.1002/art.21889, 16729301.
8. Kiss E, Seres I, Tarr T, Kocsis Z, Szegedi G, Paragh G. Reduced paraoxonase1 activity is a risk for atherosclerosis in patients with systemic lupus erythematosus. Ann N Y Acad Sci 2007, 1108:83-91. 10.1196/annals.1422.009, 17893973.
9. Carlson CS, Heagerty PJ, Hatsukami TS, Richter RJ, Ranchalis J, Lewis J, Bacus TJ, McKinstry LA, Schellenberg GD, Rieder M, Nickerson D, Furlong CE, Chait A, Jarvik GP. TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease. J Lipid Res 2006, 47:1014-1024. 10.1194/jlr.M500517-JLR200, 16474172.
10. Primo-Parmo SL, Sorenson RC, Teiber J, La DB. The human serum paraoxonase/arylesterase gene (PON1) is one member of a multigene family. Genomics 1996, 33:498-507. 10.1006/geno.1996.0225, 8661009.
11. Gaffney PM, Ortmann WA, Selby SA, Shark KB, Ockenden TC, Rohlf KE, Walgrave NL, Boyum WP, Malmgren ML, Miller ME, Kearns GM, Messner RP, King RA, Rich SS, Behrens TW. Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families. Am J Hum Genet 2000, 66:547-556. 10.1086/302767, 1288108, 10677315.
12. Draganov DI, Teiber JF, Speelman A, Osawa Y, Sunahara R, La DB. Human paraoxonases (PON1, PON2, and PON3) are lactonases with overlapping and distinct substrate specificities. J Lipid Res 2005, 46:1239-1247. 10.1194/jlr.M400511-JLR200, 15772423.
13. Augustinsson KB. The evolution of esterases in vertebrates. Homologous Enzymes and Biochemical Evolution. 1968, 299-311. Gordon & Breach: New York, van Thoai N, Roche J.
14. Sanghera DK, Aston CE, Saha N, Kamboh MI. DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease. Am J Hum Genet 1998, 62:36-44. 10.1086/301669, 1376796, 9443862.
15. Chen Q, Reis SE, Kammerer CM, McNamara DM, Holubkov R, Sharaf BL, Sopko G, Pauly DF, Merz CN, Kamboh MI, . WISE Study Group Association between the severity of angiographic coronary artery disease and paraoxonase gene polymorphisms in the National Heart, Lung, and Blood Institute-sponsored Women's Ischemia Syndrome Evaluation (WISE) study. Am J Hum Genet 2003, 72:13-22. 10.1086/345312, 378617, 12454802, WISE Study Group.
16. Leus FR, Zwart M, Kastelein JJ, Voorbij HA. PON2 gene variants are associated with clinical manifestations of cardiovascular disease in familial hypercholesterolemia patients. Atherosclerosis 2001, 154:641-649. 10.1016/S0021-9150(00)00440-8, 11257265.
17. Calle R, McCarthy MI, Banerjee P, Zeggini E, Cull CA, Thorne KI, Wiltshire S, Terra S, Meyer D, Richmond J, Mancuso J, Milos P, Fryburg D, Holman RR. Paraoxonase 2 (PON2) polymorphisms and development of renal dysfunction in type 2 diabetes: UKPDS 76. Diabetologia 2006, 49:2892-2899. 10.1007/s00125-006-0436-8, 17096118.
18. Boright AP, Connelly PW, Brunt JH, Scherer SW, Tsui LC, Hegele RA. Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites. Atherosclerosis 1998, 139:131-136. 10.1016/S0021-9150(98)00071-9, 9699900.
19. Stoltz DA, Ozer EA, Ng CJ, Yu JM, Reddy ST, Lusis AJ, Bourquard N, Parsek MR, Zabner J, Shih DM. Paraoxonase-2 deficiency enhances Pseudomonas aeruginosa quorum sensing in murine tracheal epithelia. Am J Physiol Lung Cell Mol Physiol 2007, 292:L852-860. 10.1152/ajplung.00370.2006, 17122353.
20. Stoltz DA, Ozer EA, Recker TJ, Estin M, Yang X, Shih DM, Lusis AJ, Zabner J. A common mutation in paraoxonase-2 results in impaired lactonase activity. J Biol Chem 2009, 284:35564-35571. 10.1074/jbc.M109.051706, 2790986, 19840942.
21. Sanghera DK, Manzi S, Minster RL, Shaw P, Kao A, Bontempo F, Kamboh MI. Genetic variation in the paraoxonase-3 (PON3) gene is associated with serum PON1 activity. Ann Hum Genet 2008, 72:72-81. 10.1111/j.1469-1809.2008.00443.x, 17900266.
22. Selzer F, Sutton-Tyrrell K, Fitzgerald S, Tracy R, Kuller L, Manzi S. Vascular stiffness in women with systemic lupus erythematosus. Hypertension 2001, 37:1075-1082.
23. Rhew EY, Manzi SM, Dyer AR, Kao AH, Danchenko N, Barinas-Mitchell E, Sutton-Tyrrell K, McPherson DD, Pearce W, Edmundowicz D, Kondos GT, Ramsey-Goldman R. Differences in subclinical cardiovascular disease between African American and Caucasian women with systemic lupus erythematosus. Transl Res 2009, 153:51-59. 10.1016/j.trsl.2008.11.006, 2674850, 19138649.
24. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, Schaller JG, Talal N, Winchester RJ. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982, 25:1271-1277. 10.1002/art.1780251101, 7138600.
25. Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997, 40:1725. 10.1002/art.1780400928, 9324032.
26. Mackness B, Durrington PN, Abuashia B, Boulton AJ, Mackness MI. Low paraoxonase activity in type II diabetes mellitus complicated by retinopathy. Clin Sci 2000, 98:355-363. 10.1042/CS19990239, 10677395.
27. Ng CJ, Wadleigh DJ, Gangopadhyay A, Hama S, Grijalva VR, Navab M, Fogelman AM, Reddy ST. Paraoxonase-2 is a ubiquitously expressed protein with antioxidant properties and is capable of preventing cell-mediated oxidative modification of low density lipoprotein. J Biol Chem 2001, 276:44444-44449. 10.1074/jbc.M105660200, 11579088.
28. Ng CJ, Hama SY, Bourquard N, Navab M, Reddy ST. Adenovirus mediated expression of human paraoxonase 2 protects against the development of atherosclerosis in apolipoprotein E-deficient mice. Mol Genet Metab 2006, 89:368-373. 10.1016/j.ymgme.2006.07.004, 16935014.
29. Horke S, Witte I, Wilgenbus P, Krüger M, Strand D, Förstermann U. Paraoxonase-2 reduces oxidative stress in vascular cells and decreases endoplasmic reticulum stress-induced caspase activation. Circulation 2007, 115:2055-2064. 10.1161/CIRCULATIONAHA.106.681700, 17404154.
30. Levy E, Trudel K, Bendayan M, Seidman E, Delvin E, Elchebly M, Lavoie JC, Precourt LP, Amre D, Sinnett D. Biological role, protein expression, subcellular localization, and oxidative stress response of paraoxonase 2 in the intestine of humans and rats. Am J Physiol Gastrointest Liver Physiol 2007, 293:G1252-1261. 10.1152/ajpgi.00369.2007, 17916643.
31. Shamir R, Hartman C, Karry R, Pavlotzky E, Eliakim R, Lachter J, Suissa A, Aviram M. Paraoxonases (PONs) 1, 2, and 3 are expressed in human and mouse gastrointestinal tract and in Caco-2 cell line: selective secretion of PON1 and PON2. Free Radic Biol Med 2005, 39:336-344. 10.1016/j.freeradbiomed.2005.03.016, 15993332.
32. Mochizuki H, Scherer SW, Xi T, Nickle DC, Majer M, Huizenga JJ, Tsui LC, Prochazka M. Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence. Gene 1998, 213:149-157. 10.1016/S0378-1119(98)00193-0, 9714608.
33. Valdmanis PN, Kabashi E, Dyck A, Hince P, Lee J, Dion P, D'Amour M, Souchon F, Bouchard JP, Salachas F, Meininger V, Andersen PM, Camu W, Dupré N, Rouleau GA. Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden. Neurology 2008, 71:514-520. 10.1212/01.wnl.0000324997.21272.0c, 18695162.
34. Saeed M, Siddique N, Hung WY, Usacheva E, Liu E, Sufit RL, Heller SL, Haines JL, Pericak-Vance M, Siddique T. Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology 2006, 67:771-776. 10.1212/01.wnl.0000227187.52002.88, 16822964.
35. Janka Z, Juhász A, Rimanóczy AA, Boda K, Márki-Zay J, Kálmán J. Codon 311 (Cys→Ser) polymorphism of paraoxonase-2 gene is associated with apolipoprotein E4 allele in both Alzheimer's and vascular dementias. Mol Psychiatry 2002, 7:110-112. 10.1038/sj/mp/4000916, 11803456.
36. Wheeler JG, Keavney BD, Watkins H, Collins R, Danesh J. Four paraoxonase gene polymorphisms in 11212 cases of coronary heart disease and 12786 controls: meta-analysis of 43 studies. Lancet 2004, 363:689-695. 10.1016/S0140-6736(04)15642-0, 15001326.
37. Pinizzotto M, Castillo E, Fiaux M, Temler E, Gaillard RC, Ruiz J. Paraoxonase-2 polymorphisms are associated with nephropathy in Type II diabetes. Diabetologia 2001, 44:104-107. 10.1007/s001250051586, 11206400.