Genetics of scleroderma: Implications for personalized medicine?

BMC Medicine

Volumn 11, Issue 1, 2013, Pages

  Assassi, Shervin ^a   Radstake, Timothy R D J ^b   Mayes, Maureen D ^a   Martin, Javier ^c  

^a UNIVERSITY OF TEXAS   (United States)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

Author keywords

Biomarker; Genetic; Scleroderma; Severity; Systemic sclerosis

Indexed keywords

ABATACEPT; BIOLOGICAL MARKER; CONNECTIVE TISSUE GROWTH FACTOR; GLUCURONOSYLTRANSFERASE 1A9; HLA DP ANTIGEN; HLA DQB1 ANTIGEN; HLA DRB1 ANTIGEN; INTERFERON REGULATORY FACTOR 5; INTERLEUKIN 1 RECEPTOR ASSOCIATED KINASE 1; INTERLEUKIN 23 RECEPTOR; INTERLEUKIN 6; MACROPHAGE ELASTASE; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; NOTCH4 RECEPTOR; POTASSIUM CHANNEL KV1.5; RITUXIMAB; SIFALIMUMAB; STAT4 PROTEIN; TOLL LIKE RECEPTOR 2; TRANSCRIPTION FACTOR SOX5; TUMOR NECROSIS FACTOR ALPHA;

DISEASE DURATION; DISEASE SEVERITY; FOLLOW UP; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENETICS; HUMAN; MORBIDITY; MORTALITY; PERSONALIZED MEDICINE; SCLERODERMA; SHORT SURVEY; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE;

GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDIVIDUALIZED MEDICINE; SCLERODERMA, SYSTEMIC;

EID: 84872129706     PISSN: None     EISSN: 17417015     Source Type: Journal    
DOI: 10.1186/1741-7015-11-9     Document Type: Short Survey

References (44)

1. Martin J, Fonseca C. The genetics of scleroderma. Curr Rheumatol Rep 2011, 13:13-20. 10.1007/s11926-010-0139-5, 20960081.
2. Martin JE, Bossini-Castillo L, Martin J. Unraveling the genetic component of systemic sclerosis. Hum Genet 2012, 131:1023-1037. 10.1007/s00439-011-1137-z, 22218928.
3. Leroy EC, Black C, Fleischmajer R, Jablonska S, Krieg T, Medsger TA, Rowell N, Wollheim F. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 1988, 15:202-205.
4. Steen VD. Autoantibodies in systemic sclerosis. Semin Arthritis Rheum 2005, 35:35-42. 10.1016/j.semarthrit.2005.03.005, 16084222.
5. Elhai M, Meune C, Avouac J, Kahan A, Allanore Y. Trends in mortality in patients with systemic sclerosis over 40 years: a systematic review and meta-analysis of cohort studies. Rheumatology (Oxford) 2011, 51:1017-1026.
6. Dieude P, Guedj M, Wipff J, Avouac J, Fajardy I, Diot E, Granel B, Sibilia J, Cabane J, Mouthon L, Cracowski JL, Carpentier PH, Hachulla E, Meyer O, Kahan A, Boileau C, Allanore Y. Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: A new perspective for pulmonary fibrosis. Arthritis Rheum 2009, 60:225-233. 10.1002/art.24183, 19116937.
7. Rueda B, Broen J, Simeon C, Hesselstrand R, Diaz B, Suarez H, Ortego-Centeno N, Riemekasten G, Fonollosa V, Vonk MC, Van Den Hoogen FH, Sanchez-Roman J, guirre-Zamorano MA, Garcia-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, Coenen MJ, Airo P, Beretta L, Scorza R, van LJ, Gonzalez-Escribano MF, Nelson JL, Radstake TR, Martin J. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. Hum Mol Genet 2009, 18:2071-2077. 10.1093/hmg/ddp119, 19286670.
8. Rueda B, Gourh P, Broen J, Agarwal SK, Simeon C, Ortego-Centeno N, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assassi S, Garcia-Hernandez FJ, Carreira P, Camps M, Fernandez-Nebro A, Garcia de la P, Nearney T, Hilda D, Gónzalez-Gay MA, Airo P, Beretta L, Scorza R, Radstake TR, Mayes MD, Arnett FC, Martin J. BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians. Ann Rheum Dis 2010, 69:700-705. 10.1136/ard.2009.118174, 2975737, 19815934.
9. Gourh P, Agarwal SK, Martin E, Divecha D, Rueda B, Bunting H, Assassi S, Paz G, Shete S, McNearney T, Draeger H, Reveille JD, Radstake TR, Simeon CP, Rodriguez L, Vicente E, Gonzalez-Gay MA, Mayes MD, Tan FK, Martin J, Arnett FC. Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations. J Autoimmun 2010, 34:155-162. 10.1016/j.jaut.2009.08.014, 2821978, 19796918.
10. Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't SR, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, Gonzalez-Gay MA, Gonzalez-Escribano MF, Airo P, van LJ, Herrick A, Worthington J, Hesselstrand R, Smith V, De KF, Houssiau F, Chee MM, et al. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet 2010, 42:426-429. 10.1038/ng.565, 2861917, 20383147.
11. Zhou X, Lee JE, Arnett FC, Xiong M, Park MY, Yoo YK, Shin ES, Reveille JD, Mayes MD, Kim JH, Song R, Choi JY, Park JA, Lee YJ, Lee EY, Song YW, Lee EB. HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans. Arthritis Rheum 2009, 60:3807-3814. 10.1002/art.24982, 2829245, 19950302.
12. Allanore Y, Saad M, Dieude P, Avouac J, Distler JH, Amouyel P, Matucci-Cerinic M, Riemekasten G, Airo P, Melchers I, Hachulla E, Cusi D, Wichmann HE, Wipff J, Lambert JC, Hunzelmann N, Tiev K, Caramaschi P, Diot E, Kowal-Bielecka O, Valentini G, Mouthon L, Czirjak L, Damjanov N, Salvi E, Conti C, Muller M, Muller-Ladner U, Riccieri V, Ruiz B, et al. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet 2011, 7:e1002091. 10.1371/journal.pgen.1002091, 3131285, 21750679.
13. Gorlova O, Martin JE, Rueda B, Koeleman BP, Ying J, Teruel M, az-Gallo LM, Broen JC, Vonk MC, Simeon CP, Alizadeh BZ, Coenen MJ, Voskuyl AE, Schuerwegh AJ, van Riel PL, Vanthuyne M, van 't SR, Italiaander A, Ophoff RA, Hunzelmann N, Fonollosa V, Ortego-Centeno N, Gonzalez-Gay MA, Garcia-Hernandez FJ, Gonzalez-Escribano MF, Airo P, van LJ, Worthington J, Hesselstrand R, Smith V, et al. Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy. PLoS Genet 2011, 7:e1002178. 10.1371/journal.pgen.1002178, 3136437, 21779181.
14. Guerra SG, Vyse TJ, Cunninghame Graham DS. The genetics of lupus: a functional perspective. Arthritis Res Ther 2012, 14:211. 10.1186/ar3844, 3446495, 22640752.
15. Cho JH, Gregersen PK. Genomics and the multifactorial nature of human autoimmune disease. N Engl J Med 2011, 365:1612-1623. 10.1056/NEJMra1100030, 22029983.
16. Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, de Bakker PI, Le JM, Lee HS, Batliwalla F, Li W, Masters SL, Booty MG, Carulli JP, Padyukov L, Alfredsson L, Klareskog L, Chen WV, Amos CI, Criswell LA, Seldin MF, Kastner DL, Gregersen PK. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007, 357:977-986. 10.1056/NEJMoa073003, 2630215, 17804842.
17. Mells GF, Floyd JA, Morley KI, Cordell HJ, Franklin CS, Shin SY, Heneghan MA, Neuberger JM, Donaldson PT, Day DB, Ducker SJ, Muriithi AW, Wheater EF, Hammond CJ, Dawwas MF, , , Jones DE, Peltonen L, Alexander GJ, Sandford RN, Anderson CA. UK PBC Consortium, Wellcome Trust Case Control Consortium Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. Nat Genet 2011, 43:329-332. 10.1038/ng.789, 3071550, 21399635, UK PBC Consortium, Wellcome Trust Case Control Consortium.
18. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004, 75:330-337. 10.1086/422827, 1216068, 15208781.
19. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, Moser KL, Begovich AB, Carlton VE, Li W, Lee AT, Ortmann W, Behrens TW, Gregersen PK. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005, 76:561-571. 10.1086/429096, 1199294, 15719322.
20. Diaz-Gallo LM, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N, Agarwal S, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assassi S, García-Hernandez FJ, Carreira P, Camps MT, Fernandez-Nebro A, de la Peña PG, Nearney T, Hilda D, González-Gay MA, Airo P, Beretta L, Scorza R, Herrick A, Worthington J, Pros A, Gómez-Gracia I, Trapiella L, Espinosa G, Castellvi I, Witte T, de Keyser F, Vanthuyne M, Mayes MD, Radstake TR, Arnett FC, Martin J, Rueda B. Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis. Ann Rheum Dis 2011, 70:454-462. 10.1136/ard.2010.130138, 3170726, 21131644.
21. Arnett FC, Gourh P, Shete S, Ahn CW, Honey R, Agarwal SK, Tan FK, McNearney T, Fischbach M, Fritzler MJ, Mayes MD, Reveille JD. Major Histocompatibility Complex (MHC) class II alleles, haplotypes, and epitopes which confer susceptibility or protection in the fibrosing autoimmune disease systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls. Ann Rheum Dis 2009, 69:822-827. 2916702,2916702, 19596691.
22. Carmona FD, Gutala R, Simeon CP, Carreira P, Ortego-Centeno N, Vicente-Rabaneda E, Garcia-Hernandez FJ, Garcia de la PP, Fernandez-Castro M, Martinez-Estupinan L, Egurbide MV, Tsao BP, Gourh P, Agarwal SK, Assassi S, Mayes MD, Arnett FC, Tan FK, Martin J, Spanish Scleroderma Group Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis. Ann Rheum Dis 2012, 71:114-119. 10.1136/annrheumdis-2011-200275, 3369428, 21926187, Spanish Scleroderma Group.
23. Ioannidis JP, Vlachoyiannopoulos PG, Haidich AB, Medsger TA, Lucas M, Michet CJ, Kuwana M, Yasuoka H, Van Den HF, Te BL, van Laar JM, Verbeet NL, Matucci-Cerinic M, Georgountzos A, Moutsopoulos HM. Mortality in systemic sclerosis: an international meta-analysis of individual patient data. Am J Med 2005, 118:2-10. 10.1016/j.amjmed.2004.04.031, 15639201.
24. Steen VD, Medsger TA. Changes in causes of death in systemic sclerosis, 1972-2002. Ann Rheum Dis 2007, 66:940-944. 10.1136/ard.2006.066068, 1955114, 17329309.
25. Tyndall AJ, Bannert B, Vonk M, Airo P, Cozzi F, Carreira PE, Bancel DF, Allanore Y, Muller-Ladner U, Distler O, Iannone F, Pellerito R, Pileckyte M, Miniati I, Ananieva L, Gurman AB, Damjanov N, Mueller A, Valentini G, Riemekasten G, Tikly M, Hummers L, Henriques MJ, Caramaschi P, Scheja A, Rozman B, Ton E, Kumanovics G, Coleiro B, Feierl E, et al. Causes and risk factors for death in systemic sclerosis: a study from the EULAR Scleroderma Trials and Research (EUSTAR) database. Ann Rheum Dis 2010, 69:1809-1815. 10.1136/ard.2009.114264, 20551155.
26. Sharif R, Mayes MD, Tan FK, Gorlova OY, Hummers LK, Shah AA, Furst DE, Khanna D, Martin J, Bossini-Castillo L, Gonzalez EB, Ying J, Draeger HT, Agarwal SK, Reveille JD, Arnett FC, Wigley FM, Assassi S. IRF5 polymorphism predicts prognosis in patients with systemic sclerosis. Ann Rheum Dis 2012, 71:1197-1202. 10.1136/annrheumdis-2011-200901, 22440820.
27. Fonseca C, Lindahl GE, Ponticos M, Sestini P, Renzoni EA, Holmes AM, Spagnolo P, Pantelidis P, Leoni P, McHugh N, Stock CJ, Shi-Wen X, Denton CP, Black CM, Welsh KI, du Bois RM, Abraham DJ. A polymorphism in the CTGF promoter region associated with systemic sclerosis. N Engl J Med 2007, 357:1210-1220. 10.1056/NEJMoa067655, 17881752.
28. Hoshino K, Satoh T, Kawaguchi Y, Kuwana M. Association of hepatocyte growth factor promoter polymorphism with severity of interstitial lung disease in Japanese patients with systemic sclerosis. Arthritis Rheum 2011, 63:2465-2472. 10.1002/art.30415, 21520010.
29. Dieude P, Bouaziz M, Guedj M, Riemekasten G, Airo P, Muller M, Cusi D, Matucci-Cerinic M, Melchers I, Koenig W, Salvi E, Wichmann HE, Cuomo G, Hachulla E, Diot E, Hunzelmann N, Caramaschi P, Mouthon L, Riccieri V, Distler J, Tarner I, Avouac J, Meyer O, Kahan A, Chiocchia G, Boileau C, Allanore Y. Evidence of the contribution of the X chromosome to systemic sclerosis susceptibility: association with the functional IRAK1 196Phe/532Ser haplotype. Arthritis Rheum 2011, 63:3979-3987. 10.1002/art.30640, 21898345.
30. Dieude P, Dawidowicz K, Guedj M, Legrain Y, Wipff J, Hachulla E, Diot E, Sibilia J, Mouthon L, Cabane J, Amoura Z, Crakowski JL, Carpentier P, Avouac J, Meyer O, Kahan A, Boileau C, Allanore Y. Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity. J Rheumatol 2010, 37:987-992. 10.3899/jrheum.091163, 20231204.
31. Manetti M, Ibba-Manneschi L, Fatini C, Guiducci S, Cuomo G, Bonino C, Bazzichi L, Liakouli V, Giacomelli R, Abbate R, Bombardieri S, Montecucco C, Valentini G, Matucci-Cerinic M. Association of a functional polymorphism in the matrix metalloproteinase-12 promoter region with systemic sclerosis in an Italian population. J Rheumatol 2010, 37:1852-1857. 10.3899/jrheum.100237, 20595276.
32. Sumita Y, Sugiura T, Kawaguchi Y, Baba S, Soejima M, Murakawa Y, Hara M, Kamatani N. Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease. Rheumatology (Oxford) 2008, 47:289-291.
33. Agarwal SK, Gourh P, Shete S, Paz G, Divecha D, Reveille JD, Assassi S, Tan FK, Mayes MD, Arnett FC. Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis. J Rheumatol 2009, 36:2715-2723. 10.3899/jrheum.090421, 2895677, 19918037.
34. Wipff J, Dieude P, Guedj M, Ruiz B, Riemekasten G, Cracowski JL, Matucci-Cerinic M, Melchers I, Humbert M, Hachulla E, Airo P, Diot E, Hunzelmann N, Caramaschi P, Sibilia J, Valentini G, Tiev K, Girerd B, Mouthon L, Riccieri V, Carpentier PH, Distler J, Amoura Z, Tarner I, Degano B, Avouac J, Meyer O, Kahan A, Boileau C, Allanore Y. Association of a KCNA5 gene polymorphism with systemic sclerosis-associated pulmonary arterial hypertension in the European Caucasian population. Arthritis Rheum 2010, 62:3093-3100. 10.1002/art.27607, 20556823.
35. Broen JC, Bossini-Castillo L, van BL, Vonk MC, Knaapen H, Beretta L, Rueda B, Hesselstrand R, Herrick A, Worthington J, Hunzelman N, Denton CP, Fonseca C, Riemekasten G, Kiener HP, Scorza R, Simeon CP, Ortego-Centeno N, Gonzalez-Gay MA, Airo P, Coenen MJ, Martin J, Radstake TR, Spanish Systemic Sclerosis Group A rare polymorphism in the gene for Toll-like receptor 2 is associated with systemic sclerosis phenotype and increases the production of inflammatory mediators. Arthritis Rheum 2012, 64:264-271. 10.1002/art.33325, 21905008, Spanish Systemic Sclerosis Group.
36. Dieude P, Guedj M, Wipff J, Ruiz B, Riemekasten G, Matucci-Cerinic M, Melchers I, Hachulla E, Airo P, Diot E, Hunzelmann N, Cabane J, Mouthon L, Cracowski JL, Riccieri V, Distler J, Meyer O, Kahan A, Boileau C, Allanore Y. Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population. Ann Rheum Dis 2010, 69:1958-1964. 10.1136/ard.2009.127928, 20511617.
37. Manetti M, Allanore Y, Revillod L, Fatini C, Guiducci S, Cuomo G, Bonino C, Riccieri V, Bazzichi L, Liakouli V, Cipriani P, Giacomelli R, Abbate R, Bombardieri S, Valesini G, Montecucco C, Valentini G, Ibba-Manneschi L, Matucci-Cerinic M. A genetic variation located in the promoter region of the UPAR (CD87) gene is associated with the vascular complications of systemic sclerosis. Arthritis Rheum 2011, 63:247-256.
38. Nguyen B, Mayes MD, Arnett FC, Del JD, Reveille JD, Gonzalez EB, Draeger HT, Perry M, Hendiani A, Anand KK, Assassi S. HLA-DRB1*0407 and *1304 are risk factors for scleroderma renal crisis. Arthritis Rheum 2011, 63:530-534. 3048905, 21280007.
39. Assassi S, Sharif R, Lasky RE, McNearney TA, Estrada YMR, Draeger HT, Nair DK, Fritzler MJ, Reveille JD, Arnett FC, Mayes MD, Genisos ST. Predictors of interstitial lung disease in early systemic sclerosis: a prospective longitudinal study of the GENISOS cohort. Arthritis Res Ther 2010, 12:R166. 10.1186/ar3125, 2990992, 20813056.
40. Daoussis D, Liossis SN, Tsamandas AC, Kalogeropoulou C, Kazantzi A, Sirinian C, Karampetsou M, Yiannopoulos G, Andonopoulos AP. Experience with rituximab in scleroderma: results from a 1-year, proof-of-principle study. Rheumatology (Oxford) 2010, 49:271-280.
41. Johnson SR, Feldman BM, Pope JE, Tomlinson GA. Shifting our thinking about uncommon disease trials: the case of methotrexate in scleroderma. J Rheumatol 2009, 36:323-329.
42. van Schaik RH, van AM, de Fijter JW, Hartmann A, Schmidt J, Budde K, Kuypers D, Le MY, van der WM, Mamelok R, van GT. UGT1A9 -275T A/-2152C T polymorphisms correlate with low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients. Clin Pharmacol Ther 2009, 86:319-327. 10.1038/clpt.2009.83, 19494809.
43. Baldelli S, Merlini S, Perico N, Nicastri A, Cortinovis M, Gotti E, Remuzzi G, Cattaneo D. C-440T/T-331C polymorphisms in the UGT1A9 gene affect the pharmacokinetics of mycophenolic acid in kidney transplantation. Pharmacogenomics 2007, 8:1127-1141. 10.2217/14622416.8.9.1127, 17924828.
44. Robledo G, vila-Fajardo CL, Marquez A, Ortego-Centeno N, Callejas Rubio JL, de Ramon GE, Sanchez-Roman J, Garcia-Hernandez FJ, Rios-Fernandez R, Gonzalez-Escribano MF, Camps Garcia MT, Castillo Palma MJ, Ayala MD, Martin J. Association Between -174 Interleukin-6 Gene Polymorphism and Biological Response to Rituximab in Several Systemic Autoimmune Diseases. DNA Cell Biol 2012, 31:1486-91. 10.1089/dna.2012.1684, 22734797.